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Cerebral/cortical visual impairment (CVI), a brain-based condition, has emerged as a leading cause of pediatric visual impairment in the United States and other industrialized nations. The National Eye Institute (NEI) recognized CVI as a priority area for research as part of their 2021 NEI Vision for the Future Strategic Plan and partnered with the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Institute of Neurologic Disorders and Stroke within the National Institutes of Health (NIH) to sponsor a CVI Workshop in November 2023. A panel consisting of a group of clinicians with expertise in diagnosing CVI convened to draft a working definition for this condition. Five key elements were identified: (1) CVI encompasses a spectrum of visual impairments caused by an underlying brain abnormality that affects the development of visual processing pathways and is characterized by deficits in visual function and functional vision; (2) the visual dysfunction in CVI is greater than expected by any comorbid ocular conditions alone; (3) the visual dysfunction in CVI may manifest as lower-order or higher-order afferent visual deficits, or both, leading to characteristic behaviors in affected individuals; (4) although CVI may be comorbid with other neurodevelopmental disorders, CVI is not primarily a disorder of language, learning, or social communication; and (5) the underlying neurologic insult of the developing brain may go unrecognized or undiagnosed until later in life. Future work is needed to achieve consensus on nomenclature, diagnostic criteria, and strategies for early identification and intervention. The NIH is developing a CVI registry to collect relevant demographic and clinical data prospectively and longitudinally to help inform future research questions and to provide insight into considerations for future clinical trials in the field of CVI. [ABSTRACT FROM AUTHOR]

Abstract Background Developmental and Epileptic Encephalopathies (DEEs) are defined by drug-resistant seizures and neurodevelopmental disorders. Over 50% of patients have a genetic cause. Studies have shown that patients with DEEs, regardless of genetic diagnosis, experience a central visual function disorder known as Cerebral (cortical) Visual Impairment (CVI). The prevalence of CVI in DEE patients is currently unknown. A quantitative synthesis of existing data on the prevalence rates of this condition would aid in understanding the magnitude of the problem, outlining future research, and suggesting the need for therapeutic strategies for early identification and prevention of the disorder. Methods The protocol followed the PRISMA-P statement for systematic review and meta-analysis protocols. The review will adhere to the JBI Manual for Evidence Synthesis (Systematic Reviews of Prevalence and Incidence) and use the CoCoPop framework to establish eligibility criteria. We will conduct a comprehensive search of several databases, including MEDLINE, EMBASE, Science Direct, Scopus, PsychINFO, Wiley, Highwire Press, and Cochrane Library of Systematic Reviews. Our primary focus will be determining the prevalence of cerebral visual impairments (Condition) in patients with developmental and epileptic encephalopathy (Population). To ensure clarity, we will provide a narrative summary of the risk of bias in the studies we include. The Cochrane Q statistic will be used to assess heterogeneity between studies. If the quantitative synthesis includes more than 10 studies, potential sources of heterogeneity will be investigated through subgroup and meta-regression analyses. Meta(bias)es analysis will also be performed. The quality of evidence for all outcomes will be evaluated using the Grading of Recommendations Assessment Development and Evaluation (GRADE) working group methodology. Discussion This protocol outlines a systematic review and meta-analysis to identify, collect, evaluate, and integrate epidemiological knowledge related to the prevalence of CVI in patients with DEEs. To the best of our knowledge, no other systematic review and meta-analysis has addressed this specific issue. The results will provide useful information for understanding the extent of the problem, outlining future research, and suggesting the need for early identification strategies. Systematic review registrations This Systematic Review Protocol was registered in PROSPERO (CRD42023448910).

Abstract Background Cortical visual impairment (CVI) is a verifiable visual dysfunction that cannot be attributed to disorders of the anterior visual pathways or any potentially co-occurring ocular impairment. Given the limited knowledge on the most effective interventions for visual impairment resulting from CVI, this case report provides valuable insights into an example of successful implementation of anti-amblyopia therapy in a patient with CVI. Case presentation This case report presents a 5-year-old girl with CVI secondary to hypoxic-ischemic injury, resulting in visual impairment, dyspraxia, and abnormal visual evoked potential testing. The girl did not suffer from amblyopia, there was no evidence of relevant refractive errors or strabismus, so visual pathway damage was the cause of her visual deficit. Nevertheless, the patient underwent anti-amblyopia therapy and showed significant improvement in visual acuity after 12 months of treatment. The improvement, resulting from visual stimulation, was due to a good functional recovery by a better usage of the damaged visual pathways. The therapy included prescribing corrective glasses and implementing secondary occlusion of the better eye for 4 months, which was protracted for another 4 months, leading to further improvements in visual acuity. Conclusions The case report shows that addressing even minor refractive errors and implementing anti-amblyopia therapy can significantly improve vision in children with CVI, even without co-existing amblyopia. It also highlights the importance of early intervention and multidisciplinary rehabilitation in children with CVI, focusing on motor and cognitive skills. Additionally, it emphasizes the need for further research to establish evidence-based practice standards for improving vision in children with CVI.

Background: Developmental and Epileptic Encephalopathies (DEEs) are defined by drug-resistant seizures and neurodevelopmental disorders. Over 50% of patients have a genetic cause. Studies have shown that patients with DEEs, regardless of genetic diagnosis, experience a central visual function disorder known as Cerebral (cortical) Visual Impairment (CVI). The prevalence of CVI in DEE patients is currently unknown. A quantitative synthesis of existing data on the prevalence rates of this condition would aid in understanding the magnitude of the problem, outlining future research, and suggesting the need for therapeutic strategies for early identification and prevention of the disorder. Methods: The protocol followed the PRISMA-P statement for systematic review and meta-analysis protocols. The review will adhere to the JBI Manual for Evidence Synthesis (Systematic Reviews of Prevalence and Incidence) and use the CoCoPop framework to establish eligibility criteria. We will conduct a comprehensive search of several databases, including MEDLINE, EMBASE, Science Direct, Scopus, PsychINFO, Wiley, Highwire Press, and Cochrane Library of Systematic Reviews. Our primary focus will be determining the prevalence of cerebral visual impairments (Condition) in patients with developmental and epileptic encephalopathy (Population). To ensure clarity, we will provide a narrative summary of the risk of bias in the studies we include. The Cochrane Q statistic will be used to assess heterogeneity between studies. If the quantitative synthesis includes more than 10 studies, potential sources of heterogeneity will be investigated through subgroup and meta-regression analyses. Meta(bias)es analysis will also be performed. The quality of evidence for all outcomes will be evaluated using the Grading of Recommendations Assessment Development and Evaluation (GRADE) working group methodology. Discussion: This protocol outlines a systematic review and meta-analysis to identify, collect, evaluate, and integrate epidemiological knowledge related to the prevalence of CVI in patients with DEEs. To the best of our knowledge, no other systematic review and meta-analysis has addressed this specific issue. The results will provide useful information for understanding the extent of the problem, outlining future research, and suggesting the need for early identification strategies. Systematic review registrations: This Systematic Review Protocol was registered in PROSPERO (CRD42023448910). [ABSTRACT FROM AUTHOR]

Background: Cortical visual impairment (CVI) is a verifiable visual dysfunction that cannot be attributed to disorders of the anterior visual pathways or any potentially co-occurring ocular impairment. Given the limited knowledge on the most effective interventions for visual impairment resulting from CVI, this case report provides valuable insights into an example of successful implementation of anti-amblyopia therapy in a patient with CVI. Case presentation: This case report presents a 5-year-old girl with CVI secondary to hypoxic-ischemic injury, resulting in visual impairment, dyspraxia, and abnormal visual evoked potential testing. The girl did not suffer from amblyopia, there was no evidence of relevant refractive errors or strabismus, so visual pathway damage was the cause of her visual deficit. Nevertheless, the patient underwent anti-amblyopia therapy and showed significant improvement in visual acuity after 12 months of treatment. The improvement, resulting from visual stimulation, was due to a good functional recovery by a better usage of the damaged visual pathways. The therapy included prescribing corrective glasses and implementing secondary occlusion of the better eye for 4 months, which was protracted for another 4 months, leading to further improvements in visual acuity. Conclusions: The case report shows that addressing even minor refractive errors and implementing anti-amblyopia therapy can significantly improve vision in children with CVI, even without co-existing amblyopia. It also highlights the importance of early intervention and multidisciplinary rehabilitation in children with CVI, focusing on motor and cognitive skills. Additionally, it emphasizes the need for further research to establish evidence-based practice standards for improving vision in children with CVI. [ABSTRACT FROM AUTHOR]

Abstract The inconsistency in terminology for Cortical Visual Impairment or Cerebral Visual Impairment presents challenges: (1) different levels of changes in visual pathway and other cerebral areas do not allow discrimination; (2) different visual and oculomotor aspects are not adequately considered. We open a debate to consider a more appropriate diagnosis.

Background: Cerebral visual impairment (CVI) is a common sequala of early brain injury, damage, or malformation and is one of the leading individual causes of visual dysfunction in pediatric populations worldwide. Although patients with CVI are heterogeneous both in terms of underlying etiology and visual behavioural manifestations, there may be underlying similarities in terms of which white matter pathways are potentially altered. This exploratory study used diffusion tractography to examine potential differences in volume, quantitative anisotropy (QA), as well as mean, axial, and radial diffusivities (mean diffusivity (MD), axial diffusivity (AD) and radial diffusivity (RD), respectively) focusing on the dorsal and ventral visual stream pathways in a cohort of young adults with CVI compared to typically sighted and developing controls. Methods: High angular resolution diffusion imaging (HARDI) data were acquired in a sample of 10 individuals with a diagnosis of CVI (mean age = 17.3 years, 2.97 standard deviation (SD), range 14–22 years) and 17 controls (mean age = 19.82 years, 3.34 SD, range 15–25 years). The inferior longitudinal fasciculus (ILF), inferior fronto-occipital fasciculus (IFOF), vertical occipital fasciculus (VOF), and the three divisions of the superior longitudinal fasciculus (SLF I, II, and III) were virtually reconstructed and average tract volume (adjusted for intracranial volume), MD, AD, and RD were compared between CVI and control groups. As a secondary analysis, an analysis of variance (ANOVA) was carried out to investigate potential differences based on etiology (i.e., CVI due to periventricular leukomalacia (CVI-PVL) and CVI due to other causes (CVI-nonPVL)). Results: We observed a large degree of variation within the CVI group, which minimized the overall group differences in tractography outcomes when examining the CVI sample as a unitary group. In our secondary analysis, we observed significant reductions in tract volume in the CVIPVL group compared to both controls and individuals with CVI due to other causes. We also observed widespread significant increases in QA, MD, and AD in CVI-PVL compared to the control group, with mixed effects in the CVI-nonPVL group. Conclusions: These data provide preliminary evidence for aberrant development of key white matter fasciculi implicated in visual perceptual processing skills, which are often impaired to varying degrees in individuals with CVI. The results also indicate that the severity and extent of the white matter changes may be due in part to the underlying cause of the cerebral visual impairments. Additional analyses will need to be done in a larger sample alongside behavioural testing to fully appreciate the relationships between white matter integrity, visual dysfunction, and associated causes in individuals with CVI. [ABSTRACT FROM AUTHOR]

Background: Traumatic brain injury (TBI) is a growing public health concern among children and adolescents, causing death or permanent disabilities. It affects the individual's life, cognition, behaviour, and psychosocial, physical, and occupational concerns. Cortical visual impairment (CVI) is rare and typically caused by hypoxia, ischemia, and head trauma. The existence of TBI in children increases the likelihood of CVI. Therefore, prompt treatment of TBI should concentrate on preventing secondary injuries linked to worse outcomes such as CVI. Case Report: We report the case of a three-year, eleven-month-old boy accompanied by his parents who presented to the clinic 92 days after a road traffic accident. The parents complained that their child did not look at them or reach for an object when it was presented. The child was hospitalized following multiple injuries and the development of convulsions. He was diagnosed after magnetic resonance imaging (MRI) with hypoxic/ischemic brain injury resulting in acquired CVI. Upon examination, it was discovered that the child could not fixate and follow a light and had a refractive error of +5.00 DS OU. Spectacles were prescribed, and a multidisciplinary management plan was customized for the child. Treatment was based on various scientific experiment reports as no specific treatment protocol existed. After four years of intensive vision therapy, special education, and occupational therapy, the child improved in visual acuity and was more independent in performing his daily activities. Conclusion: Regardless of a patient's age and recovery time, this case report highlights the significance of vision therapy as a treatment for CVI secondary to TBI, saving the child from blindness. Clinicians should consider vision therapy in the overall rehabilitation for treating patients with CVI going forward. [ABSTRACT FROM AUTHOR]

Parents of children with both cortical visual impairment (CVI) and complex communication needs offer unique perspectives on their children's journeys to receiving proper diagnoses, supports, and interventions, such as augmentative and alternative communication (AAC). This study explored the lived experiences, supports, and barriers identified by parents through a qualitative phenomenological approach. Nine parents of children with both CVI and complex communication needs were interviewed virtually. Results indicated five themes descriptive of the parents' experiences: Challenges Piecing Together a CVI Diagnosis; Dealing with Low Expectations of Others; Parents Empowered to Take Action; Guessing Game to Determine Appropriate AAC to Accommodate CVI; and Aligning Professional Practice with Parent Priorities. Whereas some of these themes echoed the experiences of parents of children with complex communication needs (such as those with cerebral palsy) who were not specifically diagnosed with CVI, other themes were unique to this set of parents including the uncertainty of AAC design and intervention given the challenges of CVI and the necessity of more than one way for children to communicate given their visual challenges. This study highlighted the dire need for continued investigation to determine effective AAC interventions for individuals with CVI. [ABSTRACT FROM AUTHOR]

The inconsistency in terminology for Cortical Visual Impairment or Cerebral Visual Impairment presents challenges: (1) different levels of changes in visual pathway and other cerebral areas do not allow discrimination; (2) different visual and oculomotor aspects are not adequately considered. We open a debate to consider a more appropriate diagnosis. [ABSTRACT FROM AUTHOR]

Cerebral visual impairment is the leading cause of low vision in children, and functional gains can be achieved with intervention. To date there exists no evidence-based intervention protocol to guide rehabilitation therapists. This scoping review was conducted to synthesize the evidence currently available and explore current interventions in order to guide future research. This review identified five types of interventions for cerebral visual impairment; habilitation, visual stimulation, video game, color tent, and medical and also evidenced the need for standardized, objective measures of function for this population. [ABSTRACT FROM AUTHOR]

Cyclin-dependent kinase-like 5 (CDKL5) is a gene encoding a serine/threonine kinase that possesses an N-terminal catalytic domain and a large C-terminal domain and is located on the short arm of the X-chromosome at position 22 (Xp22). CDKL5 regulates neuronal migration, axonal growth, dendritic morphogenesis, and synaptic development and affects synaptic function. Pathogenic variants include deletions, truncations, splice variants, and missense variants. The specificity of CDKL5 is mainly determined by the shared sequence of amino acid residues, which is the phosphorylation site of the target protein with the motif Arg-Pro-X-Ser/Thr-Ala/Pro/Gly/Ser (R-P-X-[S/T]-[A/G/P/S]). Developmental encephalopathy caused by pathogenic variants of CDKL5 has a variety of nervous system symptoms, such as epilepsy, hypotonia, growth retardation, dyskinesia, cortical visual impairment, sleep disorders, and other clinical symptoms. This review summarizes the mechanism of CDKL5-induced allogeneic lesions in the nervous system and the clinical manifestations of related encephalopathy. Conclusion: This review clarifies CDKL5's participation in neurodevelopmental diseases as well as its crucial function in dividing cells, cultured neurons, knockout mice, and human iPSC-derived neurons. CDKL5 variants help identify clinical diagnostic biomarkers. Although a few direct substrates of CDKL5 have been identified, more must be found in order to fully comprehend the signaling pathways connected to CDKL5 in the brain and the mechanisms that underlie its activities. What is Known: • The CDKL5 gene has multiple functions and mainly causes disease by affecting neuronal migration, axon growth, dendritic morphogenesis, and synaptic development. Pathogenic variants include deletions, truncations, splice variants, and missense variants. Pathogenic missense mutations only occur in the kinase domain or have an impact on splicing sites. • Developmental encephalopathy caused by pathogenic variants of CDKL5 has a variety of nervous system symptoms, such as epilepsy, hypotonia, growth retardation, dyskinesia, cortical visual impairment, sleep disorders and other clinical symptoms. The CDKL5 deficiency disorder is being recognized as a severe developmental epileptic encephalopathy with early infancy start. What is New: • Chemical genetic identification of CDKL5 substrates reveals its role in neuronal microtubule dynamics. Various MT-binding proteins have been identified as interactors of CDKL5. MTs are dynamic structures that are crucial for the migration, polarity, and shape of neurons. • Neurons in CDKL5 knockout neurons were kept alive by TGF-β1 restoration of SMAD3 signaling, providing evidence for a potential new therapeutic target for CDD. CDKL5 kinase activity is essential for the transcriptional silencing of genes induced by DNA double-strand breaks, CDKL5 may play a key role in the identification of DNA damage in neurons, and the discovery in understanding the molecular basis of CDKL5-related diseases is of great significance. [ABSTRACT FROM AUTHOR]

Aim: Cerebral visual impairment (CVI), a frequently occurring functional impairment in children with neurodevelopmental disorders, leads to communicative, social and academic challenges. In Norway, children with neurodevelopmental disorders are assessed at paediatric habilitation centres. Our aims were to explore how CVI is identified, how paediatric habilitation centres assess their CVI competence and the reported prevalence of CVI among children with cerebral palsy. Methods: An electronic questionnaire was sent to all 19 Norwegian paediatric habilitation centre leaders in January 2022. The results were analysed quantitatively and qualitatively. The prevalence of CVI among children with cerebral palsy was estimated using register‐based data. Results: The questionnaire was answered by 17. Only three judged their habilitation centre as having sufficient competence on CVI. None of the centres used screening questionnaires systematically, and 11 reported that CVI assessment was not good enough. Awareness that a child may have CVI typically occurred during examinations for other diagnoses. The prevalence of CVI among children with cerebral palsy was only 8%, while CVI status was unknown in 33%. Conclusion: Better knowledge and assessment of CVI at Norwegian paediatric habilitation centres are needed. CVI appears to be often overlooked in children with neurodevelopmental disorders. [ABSTRACT FROM AUTHOR]

Objectives:To evaluate the behavioral characteristics of infants with cerebral visual impairment (CVI) in response to visual stimuli and the frequency of these features.Materials and Methods:In this retrospective study, 32 infants aged 8-37 months who were referred to the low vision unit in 2019-2021 and diagnosed with CVI based on their demographic characteristics, systemic findings, and standard and functional visual examinations were evaluated. The frequency of ten behavioral characteristics exhibited by infants with CVI in response to visual stimuli as defined by Roman-Lantzy was examined in the patients.Results:The mean age was 23.46±11.45 months, the mean birth weight was 2,550±944 g, and the mean gestational age at birth was 35.39±4.68 weeks. There was hypoxic-ischemic encephalopathy in 22%, prematurity in 59%, periventricular leukomalacia in 16%, cerebral palsy in 25%, epilepsy in 50%, and strabismus in 68.7% of the patients. Color preference for fixation was observed in 40% and visual field preference was observed in 46% of the patients. The most preferred color was red (69%) and the most preferred visual field was right visual field (47%). Difficulty with distance viewing was observed in 84% of patients, visual latency in 72%, need for movement in 69%, absence of visually guided reach in 69%, difficulty with visual complexity in 66%, difficulty with visual novelty in 50%, light-gazing/nonpurposeful gaze in 50%, and atypical visual reflexes in 47%. There was no fixation in 25% of the patients.Conclusion:Behavioral characteristics in response to visual stimuli were observed in most infants with CVI. Knowing and recognizing these characteristic features by ophthalmologists will assist in early diagnosis, referral to visual habilitation, and planning habilitation techniques. These characteristic features are important in order to not miss this critical period in which the brain is still plastic and good responses to visual habilitation can be obtained.

Cortical visual impairment (CVI) is a severe loss of visual function caused by damage to the visual cortex or its afferents, usually as a consequence of hypoxic insults during birth. It is one of the leading causes of vision loss in children, and it is most often permanent.Several studies have demonstrated limited vision restoration in adults who trained on well-controlled psychophysical tasks, after acquiring CVI late in life. Other studies have shown improvements in children who underwent vision training. However, little is known about the prospects for the large number of patients who acquired CVI at birth but received no formal therapy as children.We, therefore, conducted a proof-of-principle study in one CVI patient long after the onset of cortical damage (age 18), to test the training speed, efficacy and generalizability of vision rehabilitation using protocols that had previously proven successful in adults. The patient trained at home and in the laboratory, on a psychophysical task that required discrimination of complex motion stimuli presented in the blind field. Visual function was assessed before and after training, using perimetric measures, as well as a battery of psychophysical tests.The patient showed remarkably rapid improvements on the training task, with performance going from chance to 80% correct over the span of 11 sessions. With further training, improved vision was found for untrained stimuli and for perimetric measures of visual sensitivity. Some, but not all, of these performance gains were retained upon retesting after one year.These results suggest that existing vision rehabilitation programs can be highly effective in adult patients who acquired CVI at a young age. Validation with a large sample size is critical, and future work should also focus on improving the usability and accessibility of these programs for younger patients. [ABSTRACT FROM AUTHOR]

Purpose: To study the frequency of ocular abnormalities in developmentally delayed children of a private pediatric ophthalmology clinic. Study Design: Observational cross-sectional. Place and Duration of Study: Children eye care, Lahore, from October 2020 to October 2022. Methods: Children aged five years and younger referred by a pediatrician for visual assessment were included in the study. The referring pediatrician made diagnosis of delayed milestones. A detailed ocular examination was done to rule out presence of any ocular abnormality. Data were collected, and statistical analysis was done using Excel (Microsoft 2015, version 15.15) and Stata (version 13). Results: A total of 406 children were included in the study. Forty one percent were in the age bracket of 1 – 2 years. There were 63% boys. Among all, 77% had compromised vision, of which 60% had abnormal ocular findings, while cortical visual impairment (CVI) was seen in 17%. The most common ocular issue was refractive error (30.29%), of which hyperopia was seen in 70.7% and myopia in 29.3%. Strabismus was seen in 15.5% of children and exotropia being more prevalent. Visual delay was detected in 19.8%. Out of these 42% had hyperopia, whereas 21% had esotropia. Conclusion: The significant association of ocular abnormalities with development delay is a cause of great concern as this can lead to an increase in overall morbidity. A timely examination by a pediatric ophthalmologist would lead to early detection of any ocular abnormality and convenient management, preventing undue visual impairment. [ABSTRACT FROM AUTHOR]

Introduction: Cerebral visual impairment (CVI) is the most common cause of visual impairment in children in the UK. Diagnosis is based on identification of visual behaviours (ViBes) relating to visual dysfunction. Examination techniques and inventories have been developed to elicit these in children with a developmental age of two years or more. The absence of a structured approach to recording visual behaviours in children with complex needs is a barrier to diagnosis. The aim of the study was to develop a matrix of visual behaviours seen in pre-verbal and pre-motor children with visual impairment and establish its content validity and inter-rater reliability. Methods ViBe content validation: Visual behaviour descriptors relating to visual function were collated and categorised by expert consensus of vision professionals into a matrix composed of three functions (attention, field/fixation, motor response) and five levels (0 = no awareness; 1 = visual awareness; 2 = visual attention; 3 = visual detection; 4 = visual understanding). ViBe inter-rater reliability: The participants (two orthoptists, an optometrist, an ophthalmologist and two qualified teachers of the visually impaired) used the ViBe matrix to independently score each of 17 short video clips of children demonstrating visual behaviours seen in CVI. Results: The ViBe matrix will be presented. Cohen’s kappa for the matrix was 0.67, demonstrating moderate-to-strong inter-rater reliability. Conclusion: The development of standardised descriptors can support clinicians and teachers in identifying areas of concern for children with complex needs. In addition, the ViBe matrix could be utilised in research, clinical and diagnostic reports to clearly communicate the areas of visual dysfunction and track progress resulting from interventions. Key Points • The absence of a structured approach to recording visual behaviours in children with complex needs is a barrier to diagnosis. • The ViBe matrix offers descriptors relating to visual behaviours and has demonstrated acceptable inter-rater reliability. • The tool may support the identification and diagnosis of cerebral visual impairment in a population of children who cannot access standard testing.

Background: Cerebral visual impairment (CVI) is a common sequala of early brain injury, damage, or malformation and is one of the leading individual causes of visual dysfunction in pediatric populations worldwide. Although patients with CVI are heterogeneous both in terms of underlying etiology and visual behavioural manifestations, there may be underlying similarities in terms of which white matter pathways are potentially altered. This exploratory study used diffusion tractography to examine potential differences in volume, quantitative anisotropy (QA), as well as mean, axial, and radial diffusivities (mean diffusivity (MD), axial diffusivity (AD) and radial diffusivity (RD), respectively) focusing on the dorsal and ventral visual stream pathways in a cohort of young adults with CVI compared to typically sighted and developing controls. Methods: High angular resolution diffusion imaging (HARDI) data were acquired in a sample of 10 individuals with a diagnosis of CVI (mean age = 17.3 years, 2.97 standard deviation (SD), range 14–22 years) and 17 controls (mean age = 19.82 years, 3.34 SD, range 15–25 years). The inferior longitudinal fasciculus (ILF), inferior fronto-occipital fasciculus (IFOF), vertical occipital fasciculus (VOF), and the three divisions of the superior longitudinal fasciculus (SLF I, II, and III) were virtually reconstructed and average tract volume (adjusted for intracranial volume), MD, AD, and RD were compared between CVI and control groups. As a secondary analysis, an analysis of variance (ANOVA) was carried out to investigate potential differences based on etiology (i.e., CVI due to periventricular leukomalacia (CVI-PVL) and CVI due to other causes (CVI-nonPVL)). Results: We observed a large degree of variation within the CVI group, which minimized the overall group differences in tractography outcomes when examining the CVI sample as a unitary group. In our secondary analysis, we observed significant reductions in tract volume in the CVI-PVL group compared to both controls and individuals with CVI due to other causes. We also observed widespread significant increases in QA, MD, and AD in CVI-PVL compared to the control group, with mixed effects in the CVI-nonPVL group. Conclusions: These data provide preliminary evidence for aberrant development of key white matter fasciculi implicated in visual perceptual processing skills, which are often impaired to varying degrees in individuals with CVI. The results also indicate that the severity and extent of the white matter changes may be due in part to the underlying cause of the cerebral visual impairments. Additional analyses will need to be done in a larger sample alongside behavioural testing to fully appreciate the relationships between white matter integrity, visual dysfunction, and associated causes in individuals with CVI.

Objectives: To evaluate the behavioral characteristics of infants with cerebral visual impairment (CVI) in response to visual stimuli and the frequency of these features. Materials and Methods: In this retrospective study, 32 infants aged 8-37 months who were referred to the low vision unit in 2019-2021 and diagnosed with CVI based on their demographic characteristics, systemic findings, and standard and functional visual examinations were evaluated. The frequency of ten behavioral characteristics exhibited by infants with CVI in response to visual stimuli as defined by Roman-Lantzy was examined in the patients. Results: The mean age was 23.46±11.45 months, the mean birth weight was 2,550±944 g, and the mean gestational age at birth was 35.39±4.68 weeks. There was hypoxic-ischemic encephalopathy in 22%, prematurity in 59%, periventricular leukomalacia in 16%, cerebral palsy in 25%, epilepsy in 50%, and strabismus in 68.7% of the patients. Color preference for fixation was observed in 40% and visual field preference was observed in 46% of the patients. The most preferred color was red (69%) and the most preferred visual field was right visual field (47%). Difficulty with distance viewing was observed in 84% of patients, visual latency in 72%, need for movement in 69%, absence of visually guided reach in 69%, difficulty with visual complexity in 66%, difficulty with visual novelty in 50%, light-gazing/non-purposeful gaze in 50%, and atypical visual reflexes in 47%. There was no fixation in 25% of the patients. Conclusion: Behavioral characteristics in response to visual stimuli were observed in most infants with CVI. Knowing and recognizing these characteristic features by ophthalmologists will assist in early diagnosis, referral to visual habilitation, and planning habilitation techniques. These characteristic features are important in order to not miss this critical period in which the brain is still plastic and good responses to visual habilitation can be obtained. [ABSTRACT FROM AUTHOR]

Introduction: Cerebral visual impairment (CVI) is the most common cause of visual impairment in children in the UK. Diagnosis is based on identification of visual behaviours (ViBes) relating to visual dysfunction. Examination techniques and inventories have been developed to elicit these in children with a developmental age of two years or more. The absence of a structured approach to recording visual behaviours in children with complex needs is a barrier to diagnosis. The aim of the study was to develop a matrix of visual behaviours seen in pre-verbal and pre-motor children with visual impairment and establish its content validity and inter-rater reliability. Methods ViBe content validation: Visual behaviour descriptors relating to visual function were collated and categorised by expert consensus of vision professionals into a matrix composed of three functions (attention, field/fixation, motor response) and five levels (0 = no awareness; 1 = visual awareness; 2 = visual attention; 3 = visual detection; 4 = visual understanding). ViBe inter-rater reliability: The participants (two orthoptists, an optometrist, an ophthalmologist and two qualified teachers of the visually impaired) used the ViBe matrix to independently score each of 17 short video clips of children demonstrating visual behaviours seen in CVI. Results: The ViBe matrix will be presented. Cohen’s kappa for the matrix was 0.67, demonstrating moderate-to-strong inter-rater reliability. Conclusion: The development of standardised descriptors can support clinicians and teachers in identifying areas of concern for children with complex needs. In addition, the ViBe matrix could be utilised in research, clinical and diagnostic reports to clearly communicate the areas of visual dysfunction and track progress resulting from interventions. [ABSTRACT FROM AUTHOR]

Introduction: Cerebral visual impairment (CVI) results from damage to cerebral visual processing structures. It is the most common cause of pediatric visual impairment in developed countries and rising in prevalence in developing nations. There is currently limited understanding on how neurologic, developmental, and ophthalmic factors predict outcome for pediatric CVI. Method: A retrospective manual chart review of pediatric CVI patients seen at the tertiary pediatric hospital neurology and neuro-ophthalmology service between 2010 and 2019 was conducted. Patients were stratified into severity groups (based on a custom CVI grading score), and followed over time to identify outcome predictors. Collected baseline characteristics included perinatal, genetic, developmental, and neurologic history, along with neuroimaging and fundoscopic findings on examination. Longitudinal data collected included age, seizure control, and type of therapy received. Linear mixed-effect models were used for longitudinal CVI grade outcome analysis. Results: A total of 249 individuals spanning 779 patient visits were identified. Mean age at diagnosis was 18.8 16.8 months (2-108 months). About 64.3% were born at term age. Perinatal history revealed hypoxic ischemic encephalopathy (HIE) in 16.5%, intraventricular hemorrhage (IVH) in 11.6%, and seizures in 21.7%. At presentation, 60.3% had a diagnosis of cerebral palsy and 84.7% had developmental delay. Among all subjects, 78.6% had epilepsy; 33.8% had an epileptic encephalopathy, with spasms/hypsarrhythmia being most common. Abnormal neuroimaging was present in 93.8%. Genetic anomalies were present in 26.9%. Baseline visual examination revealed no blink-to-light (BTL) in 24.5%; only BTL in 34.5%, fixation/tracking in 26.5%, and optokinetic drum follow in 14.4%. Longitudinal data analysis showed that perinatal history of HIE, a positive epilepsy history, using multiple (3) epilepsy medications, cerebral palsy, and abnormal fundoscopic findings were all negatively associated with CVI grade change over time. After controlling for significant confounders, receiving any type of therapy [early childhood intervention (ECI), physical and occupational therapy (PT/OT), refractive error correction or glasses] was significantly associated with longitudinal improvement in CVI grade compared to patients who did not receive any therapy, with glasses yielding the largest benefit. Conclusion: This study offers extensive insights into neurologic, developmental and ophthalmologic features in patients with moderate to severe CVI. In concordance with previous findings, aspects of perinatal history and epilepsy/seizure control may help inform severity and prognosis in the general neurology or ophthalmology clinic. Conversely, these aspects, as well as genetic and specific epilepsy traits may alert vision health care providers in the clinic to pursue visual evaluation in at-risk individuals. Longitudinal follow-up of CVI patients showed that interventional therapies demonstrated vision function improvement greater than no therapy and maturational development. [ABSTRACT FROM AUTHOR]

Cortical vision impairment (CVI) and Cerebral Palsy (CP) lead to decrement in sensory and motor functions of infants. The current study examined the effectiveness of sensory integration interventions on sensory, motor, and oculomotor skills in infants with cortical vision impairment. Thirty-four infants with and CP aged 12–18 months were enrolled to the study. The infants were randomly divided into two groups as the control and intervention groups. The intervention group took sensory integration intervention 2 days a week for 8 weeks in addition to conventional physiotherapy 2 days a week for 8 weeks. The control group only received the conventional physiotherapy program 2 days a week for 8 weeks. The duration of the treatment sessions were 45 min for both interventions. Before and after the intervention, sensory processing functions were evaluated with the Test of Sensory Functions in Infants (TSFI), and motor functions were evaluated with the Alberta Infant Motor Scale (AIMS). There was a statistically significant difference between the pre- and post-test mean TSFI total and AIMS scores in the intervention group and control group (p < 0.001). The intervention group mean TSFI scores were more statistically significant than the those of the control group. Mean post-intervention AIMS scores did not differ between groups. Sensory integration intervention delivered with the conventional physiotherapy program was more effective than the conventional physiotherapy program in increasing sensory processing skills in one measure in infants with CVI and CP. [ABSTRACT FROM AUTHOR]

Early infantile epileptic encephalopathy (EIEE) is a severe neurologic and neurodevelopmental disease that manifests in the first year of life. It shows a high degree of genetic heterogeneity, but the genetic origin is only identified in half of the cases. We report the case of a female child initially diagnosed with Leber congenital amaurosis (LCA), an early-onset retinal dystrophy due to photoreceptor cell degeneration in the retina. The first examination at 9 months of age revealed no reaction to light or objects and showed wandering eye movements. Ophthalmological examination did not show any ocular abnormalities. The patient displayed mildly dysmorphic features and a global developmental delay. Brain MRI demonstrated pontine hypo-/dysplasia. The patient developed myoclonic epileptic seizures and epileptic spasms with focal and generalized epileptiform discharges on electroencephalogram (EEG) at the age of 16 months. Genetic screening for a potentially pathogenic DNA sequence variant by whole-exome sequencing (WES) revealed a novel, conserved, homozygous frameshift variant (c.5391delA, p.(Ala1798LeufsTer59)) in exon 42 of the DOCK7 gene (NM_001271999.1). Further analysis by SNP array (Karyomapping) showed loss of heterozygosity (LOH) in four segments of chromosome 1. WES data of the parents and the index patient (trio analysis) demonstrated that chromosome 1 was exclusively inherited from the mother. Four LOH segments of chromosome 1 alternately showed isodisomy (UPiD) and heterodisomy (UPhD). In WES data, the father was a noncarrier, and the mother was heterozygous for this DOCK7 variant. The DOCK7 gene is located in 1p31.3, a region situated in one of the four isodisomic segments of chromosome 1, explaining the homozygosity seen in the affected child. Finally, Sanger sequencing confirmed maternal UPiD for the DOCK7 variant. Homozygous or compound heterozygous pathogenic variants in the DOCK7 (dedicator of cytokinesis 7) gene are associated with autosomal recessive, early infantile epileptic encephalopathy 23 (EIEE23; OMIM #615,859), a rare and heterogeneous group of neurodevelopmental disorders diagnosed during early childhood. To our knowledge, this is the first report of segmental uniparental iso- and heterodisomy of chromosome 1, leading to homozygosity of the DOCK7 frameshift variant in the affected patient. [ABSTRACT FROM AUTHOR]

Introduction: Cortical or cerebral visual impairment (CVI) is the leading cause of bilateral visual impairment in developed countries. The goals of this study were to explore the CVI education and training received by occupational therapy practitioners and teachers of students with visual impairments and to quantify the confidence of these professionals to evaluate and work with children who are diagnosed with CVI. Methods: An Internet-based survey was conducted with a volunteer sample that included occupational therapists, certified occupational therapy assistants, and certified teachers of students with visual impairments who practice in 50 U.S. states; Washington, D.C.; and Canada. The survey was posted on professional organizations and social media websites, as well as emailed to colleagues at organizations such as the Association for the Education and Rehabilitation of the Blind and Visually Impaired, schools for students who are blind, and local universities. Data collection occurred between June 2019 and November 2019. Results: Surveys were completed by 205 respondents from 43 U.S. states; Washington, D.C.; and Canada. Occupational therapy practitioners consistently reported lower rates of formal education in CVI, with only 25% of occupational therapists and 47% of certified occupational therapy assistants receiving education on CVI in their academic programs. Less than 23% of occupational therapists received training on CVI assessments, whereas 75% of teachers of students with visual impairments had training in CVI assessments. Additionally, respondents indicated reduced satisfaction with their knowledge and skills for treating or teaching children with CVI. Discussion: The results indicate a gap in formal CVI education for occupational therapy practitioners and, to a lesser extent, teachers of students with visual impairments. Due to the increasingly high prevalence of CVI, the gap in formal education on CVI is significant. Implications for Practitioners: Results indicate the need to increase formal and continuing education for occupational therapy practitioners and teachers of students with visual impairments. [ABSTRACT FROM AUTHOR]

The aim of this study was to describe how professionals from multiple disciplines (e.g., speech-language pathologists, teachers, occupational therapists) in the United States reported challenges they face in delivering services to children with cortical visual impairment (CVI) who use augmentative and alternative communication (AAC). Three surveys were utilized to identify barriers to and priorities for improving educational and clinical services and in-service and preservice education from the perspectives of professionals in school, community, and university settings. Results suggest that current service delivery models may not be meeting the needs of either children with CVI who use AAC or the professionals whose job it is to provide them with services. Professionals in community-based settings appeared to encounter more barriers. Findings help to support a discussion about approaching AAC interventions for children with CVI who use AAC by adopting interprofessional collaborative practice (IPCP) and interprofessional education (IPE) models, which reflect long-standing best practice guidelines for AAC service delivery and are encouraged by multiple professional organizations. [ABSTRACT FROM AUTHOR]

IntroductionCerebral visual impairment (CVI) results from damage to cerebral visual processing structures. It is the most common cause of pediatric visual impairment in developed countries and rising in prevalence in developing nations. There is currently limited understanding on how neurologic, developmental, and ophthalmic factors predict outcome for pediatric CVI.MethodA retrospective manual chart review of pediatric CVI patients seen at the tertiary pediatric hospital neurology and neuro-ophthalmology service between 2010 and 2019 was conducted. Patients were stratified into severity groups (based on a custom CVI grading score), and followed over time to identify outcome predictors. Collected baseline characteristics included perinatal, genetic, developmental, and neurologic history, along with neuroimaging and fundoscopic findings on examination. Longitudinal data collected included age, seizure control, and type of therapy received. Linear mixed-effect models were used for longitudinal CVI grade outcome analysis.ResultsA total of 249 individuals spanning 779 patient visits were identified. Mean age at diagnosis was 18.8 ± 16.8 months (2–108 months). About 64.3% were born at term age. Perinatal history revealed hypoxic ischemic encephalopathy (HIE) in 16.5%, intraventricular hemorrhage (IVH) in 11.6%, and seizures in 21.7%. At presentation, 60.3% had a diagnosis of cerebral palsy and 84.7% had developmental delay. Among all subjects, 78.6% had epilepsy; 33.8% had an epileptic encephalopathy, with spasms/hypsarrhythmia being most common. Abnormal neuroimaging was present in 93.8%. Genetic anomalies were present in 26.9%. Baseline visual examination revealed no blink-to-light (BTL) in 24.5%; only BTL in 34.5%, fixation/tracking in 26.5%, and optokinetic drum follow in 14.4%. Longitudinal data analysis showed that perinatal history of HIE, a positive epilepsy history, using multiple (≥3) epilepsy medications, cerebral palsy, and abnormal fundoscopic findings were all negatively associated with CVI grade change over time. After controlling for significant confounders, receiving any type of therapy [early childhood intervention (ECI), physical and occupational therapy (PT/OT), refractive error correction or glasses] was significantly associated with longitudinal improvement in CVI grade compared to patients who did not receive any therapy, with glasses yielding the largest benefit.ConclusionThis study offers extensive insights into neurologic, developmental and ophthalmologic features in patients with moderate to severe CVI. In concordance with previous findings, aspects of perinatal history and epilepsy/seizure control may help inform severity and prognosis in the general neurology or ophthalmology clinic. Conversely, these aspects, as well as genetic and specific epilepsy traits may alert vision health care providers in the clinic to pursue visual evaluation in at-risk individuals. Longitudinal follow-up of CVI patients showed that interventional therapies demonstrated vision function improvement greater than no therapy and maturational development.

Purpose of Review: This review is intended to assist the reader in gaining the knowledge and skills necessary for the recognition and assessment of higher-order visual dysfunction due to neurodegenerative diseases including Alzheimer's disease, dementia with Lewy bodies, Parkinson's dementia, corticobasal degeneration, Creutzfeldt–Jakob disease, and the posterior cortical atrophy syndrome. Clinical problem-solving and pattern recognition must be developed and practiced to accurately diagnosis disturbances of higher-order visual function, and knowledge of higher-order visual brain regions and their visual syndromes forms the foundation for deciphering symptoms presented by patients and/or their care partners. Tests of higher-order visual dysfunction must be assembled by the clinician and assessment can take time and effort. The use of screening tests, follow-up visits, and formal neuropsychological referrals are critical components for accurate diagnosis and these principles are reviewed here. Recent Findings: A recent survey of neuro-ophthalmologists revealed that over half of the respondents report that 5–10% of their new patient referrals carry a diagnosis of neurodegenerative disease and many patients were referred for visual symptoms of unknown cause. Despite over a century of discovery related to higher-order visual functions of the human brain, translation of discovery to the clinical assessment of patients has been slow or absent. Summary: As with the approach to translational medicine in general, to see meaningful progress, an interdisciplinary approach is indispensable. The first step involves the application of discoveries from the field visual neuroscience by clinicians from the fields of ophthalmology, neurology, and neuropsychology, and from the disciplines of neuro-ophthalmology and behavioral neurology. The unmet need for recognition, assessment, and management of higher-order visual dysfunction in neurodegeneration is evident and clinicians can contribute to closing the gap by using the approach and the tools outlined in the review. [ABSTRACT FROM AUTHOR]

Background: CDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the gene cyclin-dependent kinase-like 5. Cerebral visual impairment (CVI) is frequent in patients with CDD. In addition to being recognized as a specific feature of the pathology, it has been suggested that visual impairment may correlate with neurodevelopmental outcome and epilepsy severity, but no systematic behavioral visual assessment has been performed. The aim of our study was to evaluate clinical and electrophysiological profile of CVI in patients with CDD, to correlate various aspects of visual function to neurodevelopmental and epileptic features. Methods: The study included all patients with CDD from the National Pathology Registry. All patients underwent neurological examination, a disease-specific functional assessment, structured clinical evaluation of visual functions, including pattern reversal visual evoked potential (VEP), and a detailed monitoring of epileptic features, including video-EEG. Results: All the 11 patients recorded in the CDKL5 national registry, 10 females and one male, age range of 1.5 to 24 years (mean 9, SD 7.7, median 6.5), were enrolled. Visual function is impaired in all patients; in particular, visual fields, visual acuity, contrast sensitivity, and stereopsis were consistently abnormal whereas other aspects, such as fixing and tracking, were relatively preserved. Pattern reversal VEP was abnormal in nearly 80% of our patients. No correlation was found among CVI severity, age, level of psychomotor development, EEG abnormalities, and pathology stages even if an overall less abnormal EEG pattern was more often associated with better visual results. Conclusion: In conclusion, CVI can be considered as a major feature of CDD with a diffuse involvement in several behavioral and electrophysiological aspects. Larger cohorts will help to better clarify the possible prognostic role of EEG severity in predicting both visual and developmental abnormalities. [ABSTRACT FROM AUTHOR]

A feasibility case study was conducted to determine if eye-gaze training programs could be used to teach an individual with cortical visual impairment and cerebral palsy the visual skills necessary to operate an augmentative and alternative communication device using eye-gaze access. The individual was taught visual skills during phase 1 of the intervention through eye-gaze training programs, and communication was taught during phase 2. The individual acquired the necessary visual skills to operate the AAC device and demonstrated functional communication using the device. [ABSTRACT FROM AUTHOR]

BackgroundCDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the gene cyclin-dependent kinase-like 5. Cerebral visual impairment (CVI) is frequent in patients with CDD. In addition to being recognized as a specific feature of the pathology, it has been suggested that visual impairment may correlate with neurodevelopmental outcome and epilepsy severity, but no systematic behavioral visual assessment has been performed. The aim of our study was to evaluate clinical and electrophysiological profile of CVI in patients with CDD, to correlate various aspects of visual function to neurodevelopmental and epileptic features.MethodsThe study included all patients with CDD from the National Pathology Registry. All patients underwent neurological examination, a disease-specific functional assessment, structured clinical evaluation of visual functions, including pattern reversal visual evoked potential (VEP), and a detailed monitoring of epileptic features, including video-EEG.ResultsAll the 11 patients recorded in the CDKL5 national registry, 10 females and one male, age range of 1.5 to 24 years (mean 9, SD 7.7, median 6.5), were enrolled. Visual function is impaired in all patients; in particular, visual fields, visual acuity, contrast sensitivity, and stereopsis were consistently abnormal whereas other aspects, such as fixing and tracking, were relatively preserved. Pattern reversal VEP was abnormal in nearly 80% of our patients. No correlation was found among CVI severity, age, level of psychomotor development, EEG abnormalities, and pathology stages even if an overall less abnormal EEG pattern was more often associated with better visual results.ConclusionIn conclusion, CVI can be considered as a major feature of CDD with a diffuse involvement in several behavioral and electrophysiological aspects. Larger cohorts will help to better clarify the possible prognostic role of EEG severity in predicting both visual and developmental abnormalities.

Brain injury can cause many distinct types of visual impairment in children, but these deficits are difficult to quantify due to co-morbid deficits in communication and cognition. Clinicians must instead rely on low-resolution, subjective judgements of simple reactions to handheld stimuli, which limits treatment potential. We have developed an interactive assessment program called the Visual Ladder, which uses gaze-based responses to intuitive, game-like tasks to address the lack of broad-spectrum quantified data on the visual abilities of children with brain injury. Here, we present detailed metrics on eye movements, field asymmetries, contrast sensitivity, and other critical visual abilities measured longitudinally using the Ladder in hospitalized children with varying types and degrees of brain injury, many of whom were previously considered untestable. Our findings show which abilities are most likely to exhibit recovery and reveal how distinct patterns of task outcomes defined unique diagnostic clusters of visual impairment., Competing Interests: Notice of competing interests Authors GTP and SWJM are co-inventors on US patent US20230414092A1, which describes the hardware and software for the Gradiate contrast sensitivity task that forms one part of the assessment program used in this study.

Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies (DMTs). The Inchstone Project, an international, patient advocate-led collaboration, brings together leading researchers, clinicians, pharmaceutical companies, and advocates to develop an adapted, validated assessment battery within 5 years. The goal is to support trials of DMTs for the DEEs by providing sufficiently sensitive measurement tools to demonstrate therapeutic efficacy. An initial pilot study administered 7 established assessments to 10 individuals affected by SCN2A-DEE, identifying specific limitations of existing measures and areas for improvement. It was clear that most tools do not account for challenges throughout the DEE population, including vision impairments, significant motor impairments and profound intellectual disability, which need to be accounted for in creating a 'fit-for-purpose' battery for the DEE population. Several novel assessments, including two measures of responsivity developed for use in monitoring recovery after acquired brain injury as well as individualized Goal Attainment Scaling, showed promise in this group. The team also completed a DEE-wide survey with over 270 caregivers documenting their children's abilities and priorities for their improvement from new treatments. The Inchstone team is using this information to evaluate how existing tools might be updated to better capture what is most important to families and measure their child's small but important improvements over time. These efforts are building a coherent picture across multiple DEEs of what domains, or concepts of interest, have the greatest impact on most patients and families. The Inchstone team is on course to adapt non-seizure outcome measures that are (1) sufficiently sensitive to measure small increments of meaningful change ('Inchstones') and (2) applicable to multiple DEE conditions., Competing Interests: The authors declare that there is no conflict of interest., (© The Author(s), 2024.)

Michael J Wan,1 Ka Lo Chan,1,2 Benjamin G Jastrzembski,1 Asim Ali11Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; 2School of Medicine, Griffith University, Brisbane, QLD, AustraliaAbstract: Tuberous sclerosis complex (TSC) is a complex, multi-system disorder with a well-described underlying genetic etiology. While retinal findings are common in TSC and important in establishing the diagnosis, TSC also has many potential neuro-ophthalmology manifestations. The neuro-ophthalmology manifestations of TSC can have a significant impact on visual function and are sometimes a sign of serious neurological disease. The purpose of this review is to describe the neuro-ophthalmological manifestations of TSC. These manifestations include optic nerve hamartomas, elevated intracranial pressure, cranial nerve palsies, cortical visual impairment, visual field deficits, and ocular toxicity from vigabatrin treatment of infantile spasms. It is important to be aware of potential neuro-ophthalmological manifestations in these patients in order to detect signs of vision- or life-threatening disease and to optimize visual function and quality-of-life.Keywords: astrocytic hamartoma, cortical visual impairment, intracranial pressure elevation, visual field defect, vigabatrin

Cortical visual impairment is a leading cause of difficulties in visual functioning in premature children and children with cerebral palsy. Bearing in mind that a large part of the brain is involved in regulating visual-perceptive activities, the factors which influence its structure and functioning are a common cause of visual impairment. Complex neurological and neuro-ophthalmological basis of cortical visual impairment requires a transdisciplinary approach, as the most effective one for making accurate diagnosis and planning treatment. Introducing a separate code for cortical visual impairment in the International Classification of Diseases can simplify the diagnostics, formation of uniform diagnostic criteria, and provide evidence-based treatment involvement. Determining the presence of neurological impairment and a detailed assessment of visual functioning facilitate the creation of intervention programs and a "friendly environment" for working and daily functioning, based on individual needs of a child.

Cortical vision impairment (CVI) and Cerebral Palsy (CP) lead to decrement in sensory and motor functions of infants. The current study examined the effectiveness of sensory integration interventions on sensory, motor, and oculomotor skills in infants with cortical vision impairment. Thirty-four infants with and CP aged 12–18 months were enrolled to the study. The infants were randomly divided into two groups as the control and intervention groups. The intervention group took sensory integration intervention 2 days a week for 8 weeks in addition to conventional physiotherapy 2 days a week for 8 weeks. The control group only received the conventional physiotherapy program 2 days a week for 8 weeks. The duration of the treatment sessions were 45 min for both interventions. Before and after the intervention, sensory processing functions were evaluated with the Test of Sensory Functions in Infants (TSFI), and motor functions were evaluated with the Alberta Infant Motor Scale (AIMS). There was a statistically significant difference between the pre- and post-test mean TSFI total and AIMS scores in the intervention group and control group (p < 0.001). The intervention group mean TSFI scores were more statistically significant than the those of the control group. Mean post-intervention AIMS scores did not differ between groups. Sensory integration intervention delivered with the conventional physiotherapy program was more effective than the conventional physiotherapy program in increasing sensory processing skills in one measure in infants with CVI and CP.

Purpose: Cerebral visual impairment (CVI) is the leading cause of childhood visual impairment in the developed world. Despite this, there are no agreed clinical guidelines for the investigation and diagnosis of the condition. Before development of such guidelines can commence, it is important to recognise which approaches are currently employed. This systematic review evaluated the literature to identify which methods of assessment are currently used to investigate and diagnose childhood CVI. Methods: Medline, Embase, CINAHL, Scopus and the Cochrane Library databases were systematically searched in January 2020 using defined search terms. Articles were included if they: (i) were research papers, conference abstracts or research protocols published in peer‐reviewed scientific journals, or relevant textbooks; (ii) included a clinical investigation of CVI in children; (iii) provided an explanation or criteria to diagnose CVI and (iv) were specifically investigating cerebral/cortical visual impairment. Methods used to a) assess and b) diagnose CVI were extracted from included articles. 'Assessment scores' were assigned for each method employed by researchers to investigate and diagnose CVI to quantify and compare approaches between articles. A quality grading was also applied to each article. Results: Of 6454 identified articles, 45 met the inclusion criteria. From these, 10 categories of assessment utilised within included articles were identified: (1) Medical history, (2) Vision assessment/ophthalmologic examination, (3) Neuroimaging, (4) Visual behaviour and direct observation, (5) Structured history‐taking, (6) Visual perception tests, (7) Ocular movement and posture assessment, (8) Intelligence/IQ assessment, (9) Clinical electrophysiology and (10) Neurodevelopmental tests. In terms of diagnostic criteria, the most commonly reported approach was one of exclusion, i.e., CVI was diagnosed when visual dysfunction could not be attributed to abnormalities detected in the anterior visual pathway. Conclusion: There is a lack of common practice in the approaches used by clinicians to investigate and diagnose CVI in children. At present, a 'diagnosis of exclusion' remains the most common means to diagnose CVI. Development of clinical guidelines for assessment and diagnosis are necessary to ensure consistency in the diagnosis of CVI and the timely implementation of support to alleviate the impact of CVI on the child's daily living. [ABSTRACT FROM AUTHOR]

Objective: The objective of the present study is to expand our understanding of visual complaints in people with multiple sclerosis (MS) with the aim of exploring potential rehabilitation approaches for treating visual complaints. Visual complaints are increasingly recognized as a core manifestation of MS. Up to 90% of people with MS report all kinds of visual complaints, such as blurry vision, double vision, being blinded by bright light, a reduced visual field and having trouble with depth perception. Since intact vision is quintessential to many activities of daily life, such as reading or car driving, these complaints affect independent participation to a great extent. The complaints cannot be fully explained by optical neuritis (a common symptom of MS) or other treatable visual or ophthalmological disorders. Moreover, there are no rehabilitation programs available for visual complaints in people with MS. However, the complaints are not yet understood well enough to develop effective rehabilitation strategies to reduce the impact of the visual complaints. Participants and Methods: Visual complaints were assessed using the Screening Visual Complaints questionnaire. 68 people with MS with visual complaints, and 37 with hardly any visual complaints received a standard visual function assessment and a neuropsychological assessment. Correlations between the visual complaints, visual functions and cognitive functions were calculated. In addition, correlations were calculated between several visual functions and a composite score of the neuropsychological assessment. Results: Only some specific visual measures related to visual complaints, with small to moderate effect sizes. While most specific cognitive functions did not show correlations, measures indicative of overall cognitive capacity in people with MS (such as motor speed) consistently correlated with different kinds of visual complaints. Additionally, visual functions that related to visual complaints also correlated with the composite score for cognitive functioning. Conclusions: Our study serendipitously showed that in developing or composing effective rehabilitation strategies for visual complaints, we should look beyond a person's visual functioning: first, the overall cognitive capacity should be taken into account. Second, visual functioning and cognitive functioning are closely related. These results indicate that visual complaints may be a result of a general decline of the visual and/or cognitive system as one. When treating these complaints, low vision rehabilitation and neuropsychological rehabilitation strategies may be combined. Strategies should not focus on specific visual or cognitive functions, but at making the visual world more easily accessible, or more easily visible, to reduce the impact on the visual system and cognitive capacity. Strategies could range from applying more contrast in the environment to psycho-education. Future research should focus on developing rehabilitation programs and assessing their effectiveness in people with MS or with other types of non-acquired brain injuries. [ABSTRACT FROM AUTHOR]

21q22 contains several dosage sensitive genes that are important in neurocognitive development. Determining impacts of gene dosage alterations in this region can be useful in establishing contributions of these genes to human development and disease. We describe a 15‐month‐old girl with a 1,140 kb homozygous deletion in the Down Syndrome Critical Region at 21q22.2 including 4 genes; B3GALT5, IGSF5, PCP4, DSCAM, and a microRNA (MIR4760). Clinical singleton genome sequencing did not report any candidate gene variants for the patient's phenotype. She presented with hypotonia, global developmental delay, cortical visual impairment, and mild facial dysmorphism. Ophthalmological exam was suggestive of retinopathy. We propose that the absence of DSCAM and PCP4 may contribute to the patient's neurological and retinal phenotype, while the role of absent B3GALT5 and IGSF5 in her presentation remain unclear at this time. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the role of the ophthalmologist in the management of children with arterial stroke, at presentation and during follow-up.Methods: This retrospective case series comprised children with arterial stroke who were followed for at least 12 months in a tertiary pediatric medical center in 2005–2016. Demographic data and findings on radiological neuroimaging and ophthalmological and neurological examination were retrieved from the medical files.Results: The cohort included 26 children with stroke. Underlying disorders included metabolic syndrome (n = 5, 19.2%), cardiac anomaly or Fontan repair (n = 3 each, 11.5%), vascular anomaly (n = 3, 11.5%), head trauma with traumatic dissection (n = 3, 11.5%), and hypercoagulability (n = 1, 3.8%); in eight patients (30.8%), no apparent cause was found. Eleven patients (42.3%) had a non-ophthalmological neurological deficit as a result of the stroke. Eye examination was performed in nine patients (34.6%) during follow-up. Ophthalmological manifestations included hemianopic visual field defect in seven patients (7.7%) and complete blindness and poor visual acuity in one patient each (3.8%). At the last visit, no change in visual function was detected.Conclusion: The variable etiology and presentation of pediatric stroke may mask specific visual signs. Children with arterial stroke should be referred for early ophthalmological evaluation and visual rehabilitation.

Purpose: A pilot study was done to evaluate knowledge regarding “cortical visual impairment (CVI) in children” among ophthalmologists. Methods: This study was conducted during the annual conference of a zonal ophthalmological society. All ophthalmologists who attended the conference were requested to participate in this study. Those who agreed were given a validated questionnaire to assess knowledge regarding CVI. Cronbach's alpha of the questionnaire was 0.6. Participants were asked to respond to multiple choice questions by choosing the single best option. The responses obtained were then evaluated. Results: The total number of registered delegates in the conference was 448. A total of 103 ophthalmologists showed interest to participate in the study with a response rate of 22.9%. Only 89/103 interested delegates were included in the study as remaining were unaware of CVI. No participant gave correct answers to all questions. Although more than 80% of them knew the most common association (87%) and site of pathology (84%), only 52% were sure about clinical features and even lesser respondents (39%) knew that magnetic resonance imaging is the correct investigation of choice. The majority responded correctly that these children need eye examination (89%) and can be managed by rehabilitation through multidisciplinary approach (82%), but only 58% could recognize differential diagnoses and had a correct idea regarding the prognosis of CVI. There was no correlation between the number of patients diagnosed per month by the respondent with knowledge of the disease. Conclusion: In this pilot study, ophthalmologists were found to have limited knowledge regarding clinical features, investigation, differential diagnosis, and visual prognosis of CVI in children. There is a need to improve awareness regarding CVI among ophthalmologists.

Cortical/cerebral visual impairment (CVI) is the most frequent cause of pediatric visual impairment in developed countries and is increasing in prevalence in developing nations. The most common underlying etiology is hypoxic-ischemic encephalopathy, particularly in premature children. Other causes include seizures, hydrocephalus, trauma, and infections. Because of neurologic comorbidities, children with CVI often present challenges in diagnosis and characterization of visual deficits. Caregiver questionnaires may aid in assessment of visual functioning, while newer types of neuroimaging, including functional neuroimaging and diffusion tensor magnetic resonance imaging, may provide further insights on structure-function relationships. Genetic testing may assist in identification of underlying genetic or metabolic syndromes. Although no standard therapy for pediatric CVI exists, advances in care of preterm children and those with hypoxic-ischemic encephalopathy may in future reduce the incidence of this disorder. In addition, various methods of visual stimulation and stem cells have been advocated as treatment for pediatric CVI. Future controlled trials using standardized methods of visual assessment are necessary to establish whether these interventions are superior to observation. Practitioners should work with families and teachers of children with CVI to optimize their environment for visual functioning. Comorbid ocular and systemic disorders, which are common, should be managed appropriately. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the role of the ophthalmologist in the management of children with arterial stroke, at presentation and during follow-up. Methods: This retrospective case series comprised children with arterial stroke who were followed for at least 12 months in a tertiary pediatric medical center in 2005–2016. Demographic data and findings on radiological neuroimaging and ophthalmological and neurological examination were retrieved from the medical files. Results: The cohort included 26 children with stroke. Underlying disorders included metabolic syndrome (n = 5, 19.2%), cardiac anomaly or Fontan repair (n = 3 each, 11.5%), vascular anomaly (n = 3, 11.5%), head trauma with traumatic dissection (n = 3, 11.5%), and hypercoagulability (n = 1, 3.8%); in eight patients (30.8%), no apparent cause was found. Eleven patients (42.3%) had a non-ophthalmological neurological deficit as a result of the stroke. Eye examination was performed in nine patients (34.6%) during follow-up. Ophthalmological manifestations included hemianopic visual field defect in seven patients (7.7%) and complete blindness and poor visual acuity in one patient each (3.8%). At the last visit, no change in visual function was detected. Conclusion: The variable etiology and presentation of pediatric stroke may mask specific visual signs. Children with arterial stroke should be referred for early ophthalmological evaluation and visual rehabilitation. [ABSTRACT FROM AUTHOR]

Students with Cortical Vision Impairment (CVI) struggle with literacy, including basic foundational knowledge. These students need comprehensive emergent literacy instruction which includes opportunities for self-directed reading. Self-directed reading simply implies giving students opportunities to choose a book and then explore it independently. In order to entice students to want to read, professionals need to have a wide assortment of personally meaningful and motivating books which are visually and physically accessible. This article will provide an overview of CVI, with very specific implications and suggestions for self-directed reading, along with a discussion of using PowerPoint to make books that are customized to meet students' vision needs. [ABSTRACT FROM AUTHOR]

The paper discusses and provides support for diverse processes of brain plasticity in visual function after damage in infancy and childhood in comparison with injury that occurs in the adult brain. We provide support and description of neuroplastic mechanisms in childhood that do not seemingly exist in the same way in the adult brain. Examples include the ability to foster the development of thalamocortical connectivities that can circumvent the lesion and reach their cortical destination in the occipital cortex as the developing brain is more efficient in building new connections. Supporting this claim is the fact that in those with central visual field defects we can note that the extrastriatal visual connectivities are greater when a lesion occurs earlier in life as opposed to in the neurologically mature adult. The result is a significantly more optimized system of visual and spatial exploration within the ‘blind’ field of view. The discussion is provided within the context of “blindsight” and the “Sprague Effect”.

Many patients suffering from enteric fever may face serious complications affecting any organ. Cortical blindness has been reported as a complication in three cases till date. We report a case of a 10-year-old male child, who presented with bilateral loss of vision 9 months after suffering from Salmonella myocarditis with a cardiac arrest, following which there was hypoxic insult to the brain. The child had a perception of light and was diagnosed with cortical visual impairment. As per literature search from Medline and Cochrane review, no such case has been reported in this age group till date.