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Purpose: Morning glory disc anomaly (MGDA) is a rare congenital ophthalmologic disorder. Historically it has been diagnosed fundoscopically, with little in the literature regarding its imaging findings. The purpose of this study is to further characterize the orbital and associated intracranial magnetic resonance imaging (MRI) findings of MGDA in our tertiary pediatric center. Methods: A retrospective review was performed of fundoscopically-diagnosed cases of MGDA, that had been referred for MRI. All MRI studies were scrutinized for orbital and other intracranial abnormalities known to occur in association with MGDA. Results: 18 of 19 cases of MGDA showed three characteristic MRI findings: funnel-shaped morphology of the posterior optic disc, abnormal soft tissue associated with the retrobulbar optic nerve, and effacement of adjacent subarachnoid spaces. The ipsilateral (intraorbital) optic nerve was larger in one patient and smaller in six. The ipsilateral optic chiasm was larger in two patients and smaller in one. Conclusion: This study represents a comprehensive radiological-led investigation into MGDA. It describes the most frequently-encountered MRI findings in MGDA and emphasizes the importance of MRI in this cohort, i.e., in distinguishing MGDA from other posterior globe abnormalities, in assessing the visual pathway, and in screening for associated intracranial abnormalities – skull base/cerebral, vascular, and facial. It hypothesizes neurocristopathy as an underlying cause of MGDA and its associations. Caliber abnormalities of the ipsilateral optic nerve and chiasm are a frequent finding in MGDA. Optic pathway enlargement should not be labeled "glioma". (239/250). [ABSTRACT FROM AUTHOR]

Albinism is a heterogenous disease with variable phenotypic and genotypic presentations. Diagnosis can be challenging and clinical evaluation strategies vary. This review examines the phenotypic and genotypic characteristics of albinism and discusses evaluation strategies used to assess its variable clinical presentations. Additionally, it explores the challenges faced by clinicians in diagnosing albinism and issues related to genetic testing, interpretation and subsequent counseling of affected patients and their families. It is important to note that although current management of albinism is mainly supportive and focuses on optimizing vision, there are emerging therapies with promising translational benefit. Ongoing research in the field of albinism is benefiting from recent advances, particularly in retinal imaging and phenotyping. Similarly, access to advanced technologies like next-generation and long-read sequencing has improved diagnostic accuracy for previous cases with missing heritability. Deeper genotyping and phenotyping as well as multicentre collaborative approaches have allowed better understanding of genotype-phenotype correlations. There is still a need for more research on the psychosocial aspects of albinism. Encouraging involvement of patients and the public in determining research priorities in this area is essential for a better understanding of the psychosocial impact on individuals with albinism. [ABSTRACT FROM AUTHOR]

Congenital anomalies of the kidney and urinary tract (CAKUT) are among the most common birth defects worldwide and a major cause of kidney failure in children. Extra-renal manifestations are also common. This study reviewed diseases associated with the Genomics England CAKUT-associated gene panel for ocular anomalies. In addition, each gene was examined for expression in the human retina and an ocular phenotype in mouse models using the Human Protein Atlas and Mouse Genome Informatics databases, respectively. Thirty-four (54%) of the 63 CAKUT-associated genes (55 'green' and 8 'amber') had a reported ocular phenotype. Five of the 6 most common CAKUT-associated genes (PAX2, EYA1, SALL1, GATA3, PBX1) that represent 30% of all diagnoses had ocular features. The ocular abnormalities found with most CAKUT-associated genes and with five of the six commonest were coloboma, microphthalmia, optic disc anomalies, refraction errors (astigmatism, myopia, and hypermetropia), and cataract. Seven of the CAKUT-associated genes studied (11%) had no reported ocular features but were expressed in the human retina or had an ocular phenotype in a mouse model, which suggested further possibly-unrecognised abnormalities. About one third of CAKUT-associated genes (18, 29%) had no ocular associations and were not expressed in the retina, and the corresponding mouse models had no ocular phenotype. Ocular abnormalities in individuals with CAKUT suggest a genetic basis for the disease and sometimes indicate the affected gene. Individuals with CAKUT often have ocular abnormalities and may require an ophthalmic review, monitoring, and treatment to preserve vision. [ABSTRACT FROM AUTHOR]

Congenital malformations of the eye represent a wide and heterogeneous spectrum of abnormalities that may be part of a complex syndrome or be isolated. Ocular malformation severity depends on the timing of the causative event during eye formation, ranging from the complete absence of the eye if injury occurs during the first weeks of gestation, to subtle abnormalities if the cause occurs later on. Knowledge of ocular malformations is crucial to performing a tailored imaging protocol and correctly reporting imaging findings. Together with the ophthalmologic evaluation, imaging may help frame ocular malformations and identify underlying genetic conditions. The purpose of this pictorial review is to describe the imaging features of the main ocular malformations and the related ophthalmologic findings in order to provide a clinico-radiological overview of these abnormalities to the clinical radiologist. Sight is a crucial sense for children to explore the world and relate with their parents from birth. Vision impairment or even blindness secondary to ocular malformations deeply affects children's growth and quality of life. [ABSTRACT FROM AUTHOR]

Background: We aimed to assess the status of the optic nerve and retina by optical coherence tomography (OCT) in a group of patients with idiopathic intracranial hypertension (IIH) on the basis of dynamic changes in intracranial pressure. Methods: This observational and cross-sectional study included patients affected by idiopathic intracranial hypertension with papilledema (IIHWP) and patients with idiopathic intracranial hypertension without papilledema (IIHWOP). All participants underwent an OCT examination of the macula and optic nerve head. Parameters related to intracranial pressure, including cerebrospinal fluid (CSF) opening pressure (oCSFp), CSF mean pressure (mCSFp), and pulse wave amplitude (PWA), were included in the analysis. Results: Out of the 22 subjects enlisted for the study, a total of 16 patients suggestive of IIH were finally enrolled. Papilledema was detected in nine subjects (56.2%) and seven patients were affected by IIHWOP (43.7%). The OCT examination showed a higher mean RNFL thickness in IIHWP patients in comparison to IIHWOP in both eyes (p < 0.05 and p < 0.01, respectively). Intracranial pressure (ICP) measurements showed that IIHWP had higher values of oCSFp, mCSFp, and PWA compared to IIHWOP (p = 0.0001, p = 0.0001, and p = 0.0001, respectively). In addition, ICP parameters significantly correlated with RNFL. Conclusions: Clinical parameters suggestive of idiopathic intracranial hypertension are associated with retina and optic nerve OCT parameters. OCT is a useful tool to detect these alterations in a non-invasive fashion. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the macular imaging features in patients with unilateral myelinated retinal nerve fiber (MRNF) and high myopia syndrome. Materials and Methods: Six patients with unilateral MRNF and high myopia syndrome and 13 myopic controls were enrolled in this study. Spectral domain (SD) optical coherence tomography (OCT), SD enhanced depth imaging OCT, and OCT angiography (OCTA) imaging results of MRNF-affected eyes were compared with the fellow eyes and myopic controls. Results: All patients had abnormal foveal reflex and/or ectopia. No significant difference in retinal thickness parameters were noted between the groups. In OCT scans, posterior vitreous detachment (PVD) was observed in 4 out of the 6 MRNF-affected eyes. Regarding OCTA parameters, only a significant increase in acircularity index was noted in myelinated eyes (p=0.01). Conclusion: All patients demonstrated normal foveal contours, macular structure, and OCTA features except for a higher acircularity index. The incidence of PVD was notably increased in the myelinated eyes. [ABSTRACT FROM AUTHOR]

Background: Brain infections (BI) may cause optic nerve abnormalities. Awareness on optic nerve abnormalities will be useful in assisting further management. The characteristics of the ocular fundus (fundus) in BI have not been widely studied in Indonesia. This study aimed to apprehend the depiction of the fundus in BI in Cipto Mangunkusumo Hospital Jakarta (RSCM). Methods: Cross-sectional study was conducted on October-December 2021 at RSCM. Inclusion criteria: BI patients who had fundas results. Exclusion criteria: fundas results cannot be interpreted. Images from 20D-lens fundoscopy were captured with a digital camera. Captured images were then interpreted by three examiners in disguise. Results are analyzed if there are similarities between at least two examiners. Results: There were 49 subjects whose fundoscopy results could be analyzed. A total of 25 subjects has normal fundus. Abnormalities were seen in 8 subjects, which comprised of 4 (12.1%) papilledema, 3 (9.1%) papillatrophy and 1 (3%) retinal haemorrhage. The highest mean aperture pressure was found in the papillatrophy group (37cmH2O), followed by papilledema (27cmH2O). BI that often causes papilledema (60%) is cryptococcal meningitis. Of all BI that ended up with mortality, 80% were tuberculous meningitis with normal fundus on examination. Discussion: BI can increase intracranial pressure (ICP). Nonetheless, we found only 12.1% had papilledema. The highest mean aperture pressure was found in the papillatrophy group which showed an increase in ICP over a long period of time. The highest mortality was found in the normal fundus group so that papilledema cannot be directly associated with a worse prognosis considering the uncontrolled confounding factors such as other BI complications. Conclusion: Although BI causes an increase in ICP, papilledema is not always found. High aperture pressure was found in the papillatrophy group, but the highest mortality was found in the normal fundus group. [ABSTRACT FROM AUTHOR]

Objective: Optic nerve hypoplasia (ONH), the congenital underdevelopment of the optic nerve, is an increasing cause of visual impairment and is associated with pituitary dysfunction. Past studies have focused on the relationship between ONH, pituitary deficiencies, and brain imaging. However, recent studies have demonstrated the true risk for hypopituitarism lies with the presence or absence of ONH, irrespective of midline brain findings. This study reviewed the relationship between the health of the optic nerve (visual acuity) and pituitary gland (number and age of development of pituitary deficiencies) as a way to stratify risk, regardless of imaging findings., Design, Patients and Measurements: Retrospective chart review of 197 patients seen at a single center from 2013 to 2022. Visual assessment was defined by distance acuity, and the presence of nystagmus or afferent pupillary defect. Pituitary deficiencies were diagnosed per Endocrine Society guidelines., Results: In children with bilateral ONH (bONH), profound visual impairment was associated with more pituitary deficiencies between 0 and 15 years of age. The odds of having any pituitary deficiency were 4.9 times higher (95% confidence interval [95% CI]: 2.4-10.1) for patients with bONH versus unilateral ONH (uONH). Central hypothyroidism was the most common first presenting pituitary deficiency followed by growth hormone across all patients., Conclusion: This study shows a significant association between severity of visual impairment and increased probability of pituitary deficiencies in children with bONH versus uONH. Children with ONH require urgent endocrine evaluation due to risk of pituitary deficiencies, but risk stratification may also be based on severity of visual impairment., (© 2024 The Author(s). Clinical Endocrinology published by John Wiley & Sons Ltd.)

Developmental abnormalities of the optic nerve (ON) and pediatric optic neuropathies, such as glaucoma, are leading causes of childhood blindness. The recent development of hand-held spectral domain optical coherence tomography (HH-OCT) has enabled noncontact, high-resolution scanning in non-sedated newborns, infants, and young children and has provided for the first time, in vivo visualization of the retina and ON in these patient groups. This review will address the applications, recent advances, and future potential of HH-OCT in diagnosis and monitoring of pediatric optic neuropathies. We will provide an update on the use of HH-OCT in pediatric glaucoma, congenital optic disc anomalies, optic pathway gliomas, optic atrophy, and papilledema. HH-OCT could offer particular utility in children with optic neuropathies, by providing noninvasive, high-resolution characterization of the optic nerve head. Optic nerve parameters, such as retinal nerve fiber layer thickness, could serve as biomarkers to assess the severity of optic nerve disease qualitatively and quantitatively. Hence, HH-OCT is emerging as a powerful imaging tool to facilitate early diagnosis, identify prognostic biomarkers, monitor disease progression, and assess response to treatment. [ABSTRACT FROM AUTHOR]

We investigated the relationship between optic nerve (ON) size and visual acuity in children with optic nerve hypoplasia (ONH). The medical records of patients <19 years with ONH who underwent brain magnetic resonance imaging (MRI) and visual acuity assessment were reviewed. ON diameter at orbital and cisternal segments was assessed independently by two neuroradiologists and compared with visual acuity. ON diameter <1.7 mm represented a cutoff, below which was significantly associated with visual acuity of 20/200 or worse (P = 0.04) and above which was significantly associated with visual acuity of 20/40 or better (P = 0.004). ON diameter measured with MRI may provide an early prognostic indication of visual potential for children with ONH., (Copyright © 2024 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

Lamb-Shaffer syndrome (LSS) is a rare neurodevelopmental disorder, genetically diagnosed in fewer than 100 individuals worldwide. We present a case series of 6 pediatric patients with LSS and describe its ophthalmic manifestations. Strabismus was present in 5 patients, with exotropia being most common. All subjects had significant refractive errors; 5 had astigmatism of at least 2 D. All patients had optic nerve abnormalities, including pallor (4), hypoplasia (2), and anomalous appearance (1), with retinal nerve fiber layer thinning demonstrated in a single subject. Other ophthalmic disorders detected were ptosis (1), nasolacrimal duct obstruction (1), and nystagmus (2)., (Copyright © 2024 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

Objective: FFA is a well-established investigation for the diagnosis of optic nerve abnormalities, requiring an intravenous cannula and extended imaging acquisition time. Cannulation can present a challenge in paediatric patients and whilst oral FFA has been used for decades, it has been limited by imaging technology and unconfirmed image acquisition timings. For years, we have used a modern ultra-widefield retinal camera, and established imaging time-points to demonstrate dynamic optic nerve head changes upon ingestion of fluorescein and collected a database of oFFA images for various presentations., Methods: Using an established protocol, optic nerve colour images were obtained, followed by oral administration of fluorescein dye. The optic nerves are then imaged at established intervals. An interpretation of oFFA tutorial was delivered to consultant ophthalmologists and trainees. Subsequently, these groups were assessed using a series of fifteen cases with the sensitivity and specificity of the test determined., Results: Our study presents a series of images and descriptions for common optic nerve abnormalities in paediatric populations. In the interpretation part of the study, overall sensitivity of 76.8% in the consultant group vs 63.3% in the combined consultant + trainees and specificity of 87.5% vs 68.4% in the combined group., Conclusions: This is the first study that describes characteristic features of several common, and serious, optic nerve abnormalities specifically for oFFA interpretation in a paediatric population. It also highlights the rapid accumulation of oFFA interpretation skills in non-specialist consultant and trainee ophthalmologists such as to obtain a high diagnostic accuracy with high sensitivity and specificity., (© 2024. The Author(s), under exclusive licence to The Royal College of Ophthalmologists.)

Competing Interests: The authors report no conflicts of interest.

Background/objectives: To report a series of patients with glaucoma and optic nerve abnormalities on magnetic resonance imaging (MRI) in at least one-eye, and to determine whether these findings correlate with the severity of glaucoma., Patients and Methods: Retrospective study of all patients who underwent a brain/orbits MRI without and with contrast at our institution between 07/1/2019-6/30/2022. Patients with optic nerve T2-hyperintensity and/or MRI optic nerve atrophy in at least one-eye and a diagnosis of isolated glaucoma in at least one-eye were included. Demographic information, glaucoma clinical characteristics, glaucoma severity parameters, and MRI indication were collected., Results: Fifty-six patients (112 eyes) (age 65 years-old [range 26-88]; 70% male) had isolated bilateral glaucoma with at least one-eye MRI optic nerve abnormality. The indication for MRI was atypical/asymmetric glaucoma in 91% of patients. Of the 112 eyes, 23 had optic nerve T2-hyperintensity alone; 33 had both optic nerve T2-hyperintensity and MRI optic nerve atrophy; 34 had MRI optic nerve atrophy alone; and 22 did not have abnormal optic nerve MRI-findings. None had optic nerve enhancement. A statistically significant association between optic nerve T2-hyperintensity or MRI optic nerve atrophy and glaucoma severity parameters was found., Conclusions: Glaucoma is a clinical diagnosis and MRI brain is usually not required, except in atypical or asymmetric cases. Optic nerve T2-hyperintensity and MRI optic nerve atrophy are nonspecific MRI-findings that can be found in severe glaucomatous optic nerves and should not systematically prompt investigations for another cause of optic neuropathy., (© 2024. The Author(s), under exclusive licence to The Royal College of Ophthalmologists.)

Background The Zika virus (ZIKV) epidemic had devastating consequences in Brazil. We investigated whether a radiologic finding (ie, infratentorial abnormalities) was associated with sight-threatening defects in children born with congenital Zika syndrome (CZS). We also investigated whether ophthalmic abnormalities correlated with head circumference (HC) and gestational age of infection. Methods Cross-sectional evaluation based upon a previous cohort from March 2016 to December 2018, in Paraíba, Brazil. The study population was comprised of children born to mothers with laboratory-confirmed ZIKV infection during pregnancy (ZIKV reverse transcriptase polymerase chain reaction [RT-PCR]+) and children born with clinical and radiologic features of CZS. Results A total of 75 infants had complete data. All 75 had brain calcifications. Microcephaly was present in 53 (71%) of them. Infratentorial abnormalities were present in 17 infants (22.7%). Ophthalmic abnormalities were seen in 16 of the 17 children (94%) with infratentorial abnormalities, while 28% of children without infratentorial abnormalities had ophthalmic findings (odds ratio [OR]: 42.0; 95% confidence interval [CI]: 5.1-342.9). Similar associations were observed when macular chorioretinal atrophy and optic nerve abnormalities were analyzed individually (OR: 23.7; 95% CI: 6.0-93.3 and OR: 11.5; 95% CI: 3.3-40.0, respectively). Infratentorial abnormalities were more frequently associated with ophthalmic abnormalities (94%) than microcephaly (43.4%) (P <.001). Mean HC was statistically different between groups with and without ophthalmic abnormalities (P =.01). A statistically significant difference in gestational age between both groups was not noted (P =.12). Conclusions In children with CZS, the presence of infratentorial abnormalities is a significant predictor of ophthalmic abnormalities. All neonates whose mothers had ZIKV exposure during pregnancy should have an ophthalmologic examination. [ABSTRACT FROM AUTHOR]

Optic disc pits (ODP) are an uncommon congenital abnormality. Patients remain asymptomatic unless they develop maculopathy. The use of optic coherence tomography has critical benefits in the follow-up of patients who are at the amblyogenic age. The aim of this study is to present a case of double ODP in the right eye and single ODP in the left eye in a partially accommodative esotropia patient followed for 21 years. To our knowledge, multiple ODP has never been described in a patient with partially accommodative esotropia. [ABSTRACT FROM AUTHOR]

Choroidal microvasculature dropout (CMvD) implies compromised optic nerve head perfusion in glaucoma patients. However, there are conflicting findings whether office-hour systemic blood pressure (BP) is related to the presence of CMvD. The present study investigated which systemic BP parameters, derived from 24-h ambulatory BP monitoring (ABPM), are associated with CMvD as assessed by optical coherence tomography angiography (OCT-A) in normal-tension glaucoma (NTG). This study included 88 eyes of 88 NTG patients who underwent 24-h ABPM and OCT-A imaging. Various systemic BP parameters associated with the presence of CMvD were evaluated using logistic regression analyses. CMvD was detected in 38 NTG eyes (43.2%). NTG eyes with CMvD had nighttime diastolic BP (DBP) dip of greater magnitude and longer duration than eyes without CMvD. In multivariate logistic regression, worse VF mean deviation (MD) (odds ratio [OR] 0.786; P = 0.001), greater nighttime DBP dip "%" (OR 1.051; P = 0.034), and higher daytime peak IOP (OR 1.459; P = 0.013) were significantly associated with the presence of CMvD. Based on our findings that the eyes with CMvD are closely associated with having nighttime DBP dip, NTG patients with CMvD should be recommended to undergo 24-h ABPM. [ABSTRACT FROM AUTHOR]

Many neuroradiologists focus primarily on the central nervous system and give little attention to other regions like the eye/orbit. It is easy to be deceived by the pitfall called satisfaction of search (also abbreviated SOS), despite most congenital eye diseases being easily recognized if one is aware of them. In this article, the most common congenital orbital abnormalities are described, and their basic prenatal causes are summarized., (© 2024. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

Patients with craniosynostosis with subnormal vision due to papilledema and/or exposure-related corneal decompensation are well documented in the literature; however, there is only a single prior documented case of vision compromise secondary to anterior segment dysgenesis and glaucoma in this patient population. This report highlights a case of syndromic craniosynostosis with advanced corneal decompensation and anterior segment dysgenesis that was masked and ultimately delayed the diagnosis of congenital glaucoma. [ABSTRACT FROM AUTHOR]

Lee et al. documented in glaucoma patients, the lamina cribrosa defects located centrally were associated with an inner nuclear layer retinoschisis while the peripheral lamina cribrosa defects ranged from inner nuclear layer retinoschisis to an outer nuclear layer retinoschisis.[11] In pachychoroid spectrum disease patients, the predominant defects were lamina cribrosa disinsertions developing in the periphery of the optic nerve head and the retinoschisis extending close to the macula or fovea. Supporting the idea that lamina cribrosa defects may comprise a conduit for fluid dissipation into the intra-retinal space, Yoshitake et al. demonstrated late fluorescein staining at various optic nerve head lamina cribrosa imperfections in glaucoma patients.[10] Although the location of the lamina cribrosa defects may help clarify the development of an optic pit foveolar retinoschisis, it still does not entirely explain why it may occur without a central serous detachment or why it may remain stable over the years as in the case presented in this paper. The isolated foveolar schisis in this case and subsequent stability over the 10-year span may be related to a centrally located lamina cribrosa defect that allowed fluid to spill only into the inner nuclear layer retinoschisis. [Extracted from the article]

OBJECTIVES: To characterize ophthalmic manifestations of confirmed or suspected antenatal Zika virus (ZIKV) exposure. METHODS: Infants with antenatal ZIKV exposure were referred for evaluation during the 2015--2016 Rio de Janeiro outbreak. Mothers with symptomatic ZIKV infection during pregnancy and/or infants with microcephaly or other findings that were suggestive of suspected antenatal exposure were tested with reverse transcriptase polymerase chain reaction (RT-PCR). Complete eye examinations were performed by pediatric ophthalmologists between January 2016 and February 2017. The main outcome measure was eye abnormalities in RT-PCR--positive and suspected (ie, not tested or RT-PCR--negative) antenatal ZIKV cases. RESULTS: Of 224 infants, 189 had RT-PCR testing performed. Of 189 patients, 156 had positive RT-PCR results in their blood, urine, and/or placenta. Of 224 infants, 90 had central nervous system (CNS) abnormalities, including microcephaly (62 infants). Eye abnormalities were present in 57 of 224 (25.4%) infants. Optic nerve (44 of 57; 77.2%) and retina abnormalities (37 of 57; 64.9%) were the most common. The group with suspected ZIKV infection (68 infants) had proportionally more eye (36.8% vs 20.5%; P = .022) and CNS abnormalities (68.3% vs 28.1%; P = .008), likely because of referral patterns. Eye abnormalities consistent with ZIKV infection were clinically comparable in both RT-PCR--positive and unconfirmed groups, including 4 RT-PCR--positive infants of 5 without any CNS abnormalities. CONCLUSIONS: Similar eye manifestations were identified regardless of laboratory confirmation. Well-appearing infants were also found to have eye abnormalities. Therefore, all infants born after ZIKV outbreaks should be universally screened for eye abnormalities. [ABSTRACT FROM AUTHOR]

The article presents a case study of 41-year-old New Zealand European man, who initially presented with presbyopic symptoms, and was subsequently found to have bilateral inferior visual field defects. Topics include this being a case of topless disc syndrome (superior segmental optic hypoplasia) and its comparison to normal tension glaucoma.

The aim of this retrospective study is to describe ocular findings in a large Noonan syndrome cohort and to detect associations between ocular features and genetic mutations that were not found in earlier studies. We collected ophthalmological and genetic data of 105 patients (median age, 12 years; range, 0-60 years) clinically diagnosed as Noonan syndrome. The ocular findings were linked to the genotypes. All patients with Noonan syndrome showed multiple abnormalities in the categories of vision and refraction, external ocular features, ocular alignment and motility, anterior ocular segment, and posterior ocular segment. In total, 50 patients have NS due to a mutation in PTPN11. Permanent visual impairment (bilateral best-corrected visual acuity < 0.3) was found in 7 patients, including patients with a mutation in RAF1, SHOC2, and KRAS. Keratoconus was found in 2 PTPN11 positive patients, and prominent corneal nerves were observed in a patient with a SOS1 mutation.Conclusions: This study shows an overview of ocular abnormalities in Noonan syndrome, including permanent visual impairment caused by binocular optic nerve abnormalities and nystagmus. Delay in ophthalmological diagnosis is still present, also in patients with visual impairment. All Noonan syndrome patients should have a complete ophthalmological examination at the time of diagnosis. What is Known: • Although we discover more pathogenic mutations in patients with Noonan syndrome, Noonan syndrome still is a clinical diagnosis • Ocular features of Noonan syndrome are characterized by developmental anomalies of the eyelids and associated with other ocular abnormalities in childhood (including refractive errors, strabismus and amblyopia). What is New: • There seems to be a delay in the ophthalmological diagnosis and awareness of the broad variety ofophthalmological features including refractive errors and visual impairment in Noonan syndrome is needed. All children should have a full ophthalmological examination at the time of diagnosis. • Permanent visual impairment (best-corrected visual acuity < 0.3) is found in patients with mutations in RAF1, SHOC2, and KRAS and the cause is probably a developmental disorder of the optic nerves. [ABSTRACT FROM AUTHOR]

Five eyes of four patients were studied to analyze the structure of the inner wall of optic and chorioretinal colobomas using swept-source optical coherence tomography (SS-OCT). The colobomatous cavities and their relationship with adjacent structures were examined. SS-OCT permitted the study of the colobomatous cavities in all cases. In four of those cases, a Y-shaped intercalary membrane (ICM) was identified, with an origin in the retinal nerve fiber layer (RNFL), which covered the coloboma and in one case the coloboma was in contact with the vitreous cavity. Vitreous adhesion to the internal wall of the coloboma was found in three cases. No clinical or tomographic maculopathy was observed in any patient. High-resolution deep penetration SS-OCT allows in vivo study of optic and chorioretinal colobomas, identifying the RNFL as the main component of the ICM overlying the colobomatous cavities. [ABSTRACT FROM AUTHOR]

Purpose In this study we report an uncommon endoscopic endonasal image of an atrophic optic nerve as seen after surgical removal of a suprasellar meningioma. The peculiarity of this case is the long-lasting underestimated ocular symptomatology of the patient who reported a 15-year history of impairment of vision on her left eye. Methods A 51-year-old woman was admitted to our hospital complaining of a 15-year history of impairment of vision on her left eye. After making serendipitously the diagnosis of a suprasellar mass, we performed endoscopic endonasal surgery. Results The tumor was reached from below and removed safely, without manipulation of the optic pathways. At the end of tumor removal, the impressive left optic nerve atrophy due to enduring local tumor compression was visualized. Conclusions To the best of our knowledge, no endoscopic endonasal image with such features has been provided in the pertinent literature. Possibly, this contribution will help identify damaged optic nerves during endoscopic endonasal surgery. [ABSTRACT FROM AUTHOR]

Non-arteritic anterior ischaemic optic neuropathy (NAION) and optic neuritis (ON) may be difficult to distinguish early in their disease courses. Our goal was to determine if specific magnetic resonance imaging characteristics differentiate acute NAION from ON. Neuroradiologists, masked to diagnosis, reviewed the diffusion-weighted imaging (DWI) and post-contrast enhancement (PCE) characteristics of the optic nerve in 140 eyes. PCE and DWI signals of the optic disc alone did not discriminate between NAION and ON. After taking age and sex into consideration, only DWI and PCE of the intraorbital segment of the optic nerve differentiated the two, with ON having the increased likelihood of these findings. Isolated PCE without DWI signal at the optic disc, however, was 100% specific for NAION. This may be the most specific way to radiographically differentiate between NAION and ON in the acute setting. [ABSTRACT FROM AUTHOR]

Morning glory disc anomaly (MGDA) is a congenital optic nerve anomaly characterized by a funnel-shaped excavation of the posterior globe that incorporates the optic disc. Most cases are isolated and not associated with systemic anomalies. Systemic anomalies include midline cranial facial defects, hypertelorism, agenesis of the corpus callosum, cleft lip and palate, basal encephalocele, congenital forebrain abnormalities, and renal anomalies. We report a case of 4-year-old male child who presented with reduced visual acuity on left eye with poor fixation. The left eye demonstrated 6-diopter esotropia. Examination of fundus revealed features of MGDA. The child was further subjected to magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) of brain to rule out other associated anomalies. It demonstrated narrowing at the distal part of internal carotid artery on both sides, left more than right with prominence of lenticulostriate and leptomeningeal vessels. MRI also revealed funnel-shaped excavation of the posterior globe on the left side consistent with MGDA. Ascertaining the accurate diagnosis of MGDA guides appropriate ophthalmic management and should also prompt a search for associated intracranial abnormalities. Although the diagnosis of MGDA is typically made clinically, imaging may feed supplementary value in establishing the diagnosis and reveal the extent and character of associated ocular abnormalities, and cross-sectional imaging permits for evaluation of the globe in the setting of associated opacities of the refractive media, including persistent hyperplastic primary vitreous, which may alleviate the capacity to make this diagnosis on the basis of the fundoscopy examination alone. [ABSTRACT FROM AUTHOR]

Collie eye anomaly (CEA) encompasses a spectrum of different ophthalmic phenotypes from clinically inconsequential choroidal hypoplasia to blindness from coloboma of the optic nerve head (ONH). A previous study found a 7.8-kb deletion in intron 4 of the NHEJ1 gene to be associated with CEA. A genetic test based on this association is recommended for many breeds, including the Nova Scotia Duck Tolling Retriever (NSDTR). Collection of ONH coloboma-affected NSDTR showed lack of concordance of the NHEJ1 intronic deletion with ONH coloboma. Using genomewide single nucleotide polymorphism (SNP) genotyping in 7 ONH coloboma-affected NSDTR cases and 47 unaffected NSDTR controls with no ophthalmic signs, one SNP, located on chromosome 7, demonstrated genomewide significance. However, high genomic inflation may have confounded the results. Therefore, the genomewide association study was repeated using EMMAX to control for population structure in the cohort of 7 cases and 47 controls. However, no regions of the genome were significantly associated with ONH coloboma. These results failed to document significant association with the CEA locus. Due to the complex genetic etiology of ONH coloboma, the NHEJ1 intronic deletion test results should be carefully considered when making breeding decisions. If the goal is to select for visually competent dogs, our data suggest that eye examinations of puppies would be more effective as a guide in selection of breeding pairs than relying solely on currently available genetic tests. [ABSTRACT FROM AUTHOR]

Purpose: Petrous apex meningocele (PAM) is an uncommon cystic lesion involving the petrous apex. The underlying cause of PAM may be related to chronic elevated intracranial pressure. The aim of the study was to explore the relationship between PAM and meningioma and between PAM and other intracranial hypertension findings. Methods: Two hundred seventy-eight consecutive patients with meningiomas were retrospectively studied. Fifty age- and gender-matched controls were also enrolled in this study. The incidence of PAM, empty sella, tortuosity of the optic nerve, and hydrops of optic nerve sheath was evaluated. The maximum width, area, volume of each PAM, or Meckel's cave and volume of meningioma were measured in controls and patients, separately. Results: One hundred fifty-nine (57.19%) patients were detected with coexistent PAMs. One hundred twenty-five patients had bilateral PAMs, 34 had unilateral lesions, and the remaining 119 did not have PAM. Two subjects (4/50) had unilateral PAMs in normal controls. The maximum width, area, volume of PAM, or Meckel's cave were significantly larger in the patients with bilateral PAM group than those in the unilateral PAM group, in the group without PAM, and those in control group ( p = 0.000). The volume of meningioma was positively correlated with the PAM volume ( r = 0.48). There was a positive correlation for the incidence between PAM and (1) empty sella ( r = 0.901) and (2) tortuosity of the optic nerves and hydrops of the optic sheath ( r = 0.825). Conclusion: Coexistence of PAMs with meningiomas is not rare in incidence, and it suggests a potential role for chronically elevated intracranial pressure and disturbance of CSF circulation in their pathophysiology. [ABSTRACT FROM AUTHOR]

Introduction: In Gamma Knife Radiosurgery (GKRS) of suprasellar lesions, the exact localization of the visual pathways is important to avoid radiation induced optic neuropathy (RION). Reliable identification of the optic nerve, chiasm and tracts can be challenging using routine magnetic resonance imaging, especially in patients with lesions compressing the optic structures or in patients who had prior operation of suprasellar tumors. This study investigates the application of inversion recovery sequences (Fast gray and white matter acquisition T1 inversion recovery, FGATIR) to improve identification of the optic pathway. Methods: Inversion recovery sequences were performed on 5 healthy volunteers, varying their inversion times between 400 and 500 ms, and between 800 and 1100 ms. Inversion times were optimized to either suppress or to preserve the signal of the optic structures, while increasing or suppressing the signal of processes within the surrounding cisterns. Inversion recovery sequences were performed before radiosurgery on 10 patients with suprasellar tumors that were compressing or displacing the optic structures. Signal intensities of gray and white matter, of CSF and tumors were measured and subtraction images were calculated. Results: Compared to a standard T1-weighted sequence, delineation of the visual pathways was superior on inversion recovery images, both on images with suppression of the optic structures as well on images with suppression of its surrounding tissues, and was rated best on subtraction images. Conclusion: For radiosurgery of suprasellar tumors, inversion recovery sequences can be of valuable benefit for accurate delineation of optic pathway and radiosurgical dose planning in order to avoid radiation-induced normal tissue effects. [ABSTRACT FROM AUTHOR]

Introduction: Owing to the shared embryonic origin, defects in development of optic nerves are often seen in conjunction with defects affecting the surrounding brain and pituitary gland. Optic nerve hypoplasia (ONH) and septo-optic dysplasia (SOD) represent a clinical spectrum associated with visual, pituitary and severe central nervous system structural abnormalities (SODplus). Based on changing clinical patterns, our primary objective was to examine trends in annual incidence of ONH/SOD and geographical clustering in Manitoba. Methods: This was a retrospective 1996 to 2015 chart review with extraction of anthropometric measures, radiologic findings, parental characteristics, endocrinopathies and neurologic symptoms from all involved in care. Postal codes were used to assign map co-ordinates and identify relevant census-based deprivation indices. Results: Ninety-three children were identified in our catchment area; Poisson regression confirmed a striking 1.11-fold annual increase (95% confidence interval 1.07 to 1.16) or ~800% over two decades. The annual incidence (averaged 2010 to 2014 chart data) reached 53.3 per 100,000, affecting 1 in 1875 live births. Most (~55%) had SODplus. Common presenting features were hypoglycemia, nystagmus, seizures and developmental delay; 40% had hormone deficiencies; 80% had reduced visual acuity, typically bilateral. Many were premature with young, primiparous mothers. Unhealthy maternal lifestyles and severe material deprivation were noted. There was disproportionate clustering in individuals from Northern Manitoba at three times the average provincial rate. Conclusion: We noted a dramatic rise in the annual incidence of ONH/SOD, which was strongly associated with poverty and northern communities. The pattern was consistent with environmental or nutritional etiologies. Many children were severely affected with increased morbidity and health care burdens. [ABSTRACT FROM AUTHOR]

Renal osteodystrophy can cause calvarial hypertrophy and narrowing of the neural canals and foramina. Compressive optic neuropathy is extremely rare in renal osteodystrophy and was reported once only. The authors report bilateral, simultaneous compressive optic neuropathy secondary to renal osteodystrophy with features of uremic leontiasis ossea in chronic renal failure caused by branchio-oto-renal syndrome. Because of the extensive calvarial hypertrophy and the surgical difficulties envisaged with optic canal decompression, conservative approach was pursued. The patient’s visual acuity and fields improved after partial parathyroidectomy. Visual improvement may be explained by the arrest of renal osteodystrophy and reduced optic nerve compression after parathyroidectomy. [ABSTRACT FROM AUTHOR]

Background: The aim was to evaluate the effect of the tilted optic disc on the visual field in highly myopic eyes.Methods: A total of 58 eyes from 58 highly myopic individuals underwent detailed ophthalmic examination and were categorised into two groups according to the presence of a tilted optic disc. The visual field of 20 eyes (mean age of 28.95 ± 7.22 years) with tilted optic discs were compared with 38 eyes (mean age of 27.87 ± 6.08 years) of control subjects without tilted optic discs using the 30-2 SITA standard protocol with a Humphrey Field Analyzer - HFA II-i. Optic disc tilt was assessed from retinal photographs exported to Adobe Photoshop software. Disc ovality was assessed using the ratio of minimum to maximum disc diameter. A ratio of up to 0.80 was considered a tilted optic disc.Results: Foveal threshold sensitivity showed no statistically significant difference between tilted and non-tilted groups (35.16 ± 2.71 dB versus 35.37 ± 2.35 dB, p = 0.76). The mean deviation was -3.29 ± 2.03 dB in the tilted group and -3.49 ± 2.56 dB in the non-tilted group (p = 0.77). Additionally, there were no significant differences in the average deviation between the two groups in four quadrants and four hemifields; however, the lowest average deviation was observed in the superotemporal quadrant in the tilted group (-4.54 ± 3.16 dB). In the non-tilted group, 29 per cent had no visual field defect, 24 per cent had an arcuate scotoma and 20 per cent had generalised depression. In the tilted group, 30 per cent had an arcuate scotoma, 30 per cent had generalised depression and 13 per cent had no visual field defect. Other visual field defects occurred at frequencies less than 15 per cent in both groups.Conclusions: The investigation of visual field patterns may be more appropriate than quantitative indices (for example, total mean deviation, foveal threshold sensitivity, average deviation) to assess the visual field in highly myopic patients with tilted optic discs. [ABSTRACT FROM AUTHOR]

Segmenting the optic disc (OD) is an important and essential step in creating a frame of reference for diagnosing optic nerve head pathologies such as glaucoma. Therefore, a reliable OD segmentation technique is necessary for automatic screening of optic nerve head abnormalities. The main contribution of this paper is in presenting a novel OD segmentation algorithm based on applying a level set method on a localized OD image. To prevent the blood vessels from interfering with the level set process, an inpainting technique was applied. As well an important contribution was to involve the variations in opinions among the ophthalmologists in detecting the disc boundaries and diagnosing the glaucoma. Most of the previous studies were trained and tested based on only one opinion, which can be assumed to be biased for the ophthalmologist. In addition, the accuracy was calculated based on the number of images that coincided with the ophthalmologists' agreed-upon images, and not only on the overlapping images as in previous studies. The ultimate goal of this project is to develop an automated image processing system for glaucoma screening. The disc algorithm is evaluated using a new retinal fundus image dataset called RIGA (retinal images for glaucoma analysis). In the case of lowquality images, a double level set was applied, in which the first level set was considered to be localization for the OD. Five hundred and fifty images are used to test the algorithm accuracy as well as the agreement among the manual markings of six ophthalmologists. The accuracy of the algorithm in marking the optic disc area and centroid was 83.9%, and the best agreement was observed between the results of the algorithm and manual markings in 379 images. [ABSTRACT FROM AUTHOR]

A 22-year-old Quarter Horse gelding with a history of dental (107) extraction 2 weeks previously was presented with facial cellulitis and an orbital abscess. The abscess was drained surgically dorsally and ventrally to the zygomatic arch and the horse was treated with parenteral antimicrobial and anti-inflammatory drugs. The affected eye was protected with a temporary tarsorrhaphy and treated via a subpalpebral catheter. Six months after presentation, the horse was in excellent general condition and returned to previous level of exercise but showed blindness on the affected side. Pallor of the optic disc and severe attenuation of the retinal vessels, suggestive of optic disc atrophy, were present. [ABSTRACT FROM AUTHOR]

Dysregulation of axonal bioenergetics is likely a key mechanism in the initiation and progression of age-related neurodegenerative diseases. Glaucoma is a quintessential neurodegenerative disorder characterized by progressive deterioration of the optic nerve (ON) and eventual death of retinal ganglion cells (RGCs). Age and elevation of intraocular pressure are key risk factors in glaucoma, but the common early hallmarks of decreased axonal transport and increased bioenergetic vulnerability likely underlie disease initiation. We examined the correlation between bioenergetics and axonal transport with mitochondrial mutation frequency and post-translational modifications of mitofusin 2 (Mfn2) in RGCs during glaucoma progression. No increase in the frequency of mtDNA mutations was detected, but we observed significant shifts in mitochondrial protein species. Mfn2 is a fusion protein that functions in mitochondrial biogenesis, maintenance, and mitochondrial transport. We demonstrate that Mfn2 accumulates selectively in RGCs during glaucomatous degeneration, that two novel states of Mfn2 exist in retina and ON, and identify a phosphorylated form that selectively accumulates in RGCs, but is absent in ON. Phosphorylation of Mfn2 is correlated with higher ubiquitination, and failure of the protein to reach the ON. Together, these data suggest that post-translational modification of Mfn2 is associated with its dysregulation during a window of metabolic vulnerability that precedes glaucomatous degeneration. Future work to either manipulate expression of Mfn2 or to prevent its degradation could have therapeutic value in the treatment of neurodegenerative diseases where long-tract axons are vulnerable. [ABSTRACT FROM AUTHOR]

Studies by Bruce Ransom and colleagues have made a major contribution to show that white matter is susceptible to ischemia/hypoxia. White matter contains axons and the glia that support them, notably myelinating oligodendrocytes, which are highly vulnerable to ischemic-hypoxic damage. Previous studies have shown that metabotropic GluRs (mGluRs) are cytoprotective for oligodendrocyte precursor cells and immature oligodendrocytes, but their potential role in adult white matter was unresolved. Here, we report that group 1 mGluR1/5 and group 2 mGluR3 subunits are expressed in optic nerves from mice aged postnatal day (P)8-12 and P30-35. We demonstrate that activation of group 1 mGluR protects oligodendrocytes against oxygen-glucose deprivation (OGD) in developing and young adult optic nerves. In contrast, group 2 mGluR are shown to be protective for oligodendrocytes against OGD in postnatal but not young adult optic nerves. The cytoprotective effect of group 1 mGluR requires activation of PKC, whilst group 2 mGluR are dependent on negatively regulating adenylyl cyclase and cAMP. Our results identify a role for mGluR in limiting injury of oligodendrocytes in developing and young adult white matter, which may be useful for protecting oligodendrocytes in neuropathologies involving excitoxicity and ischemia/hypoxia. [ABSTRACT FROM AUTHOR]

Zika virus (ZIKV) infection has been associated with ocular abnormalities such as chorioretinal atrophy, optic nerve abnormalities, posterior uveitis and idiopathic maculopathy. Yet our knowledge about ZIKV infection in retinal cells and its potential contribution to retinal pathology is still very limited. Here we found that primary Müller cells, the principal glial cells in the retina, expressed a high level of ZIKV entry cofactor AXL gene and were highly permissive to ZIKV infection. In addition, ZIKV-infected Müller cells exhibited a pro-inflammatory phenotype and produced many inflammatory and growth factors. While a number of inflammatory signaling pathways such as ERK, p38MAPK, NF-κB, JAK/STAT3 and endoplasmic reticulum stress were activated after ZIKV infection, inhibition of p38MAPK after ZIKV infection most effectively blocked ZIKV-induced inflammatory and growth molecules. In comparison to ZIKV, Dengue virus (DENV), another Flavivirus infected Müller cells more efficiently but induced much lower pro-inflammatory responses. These data suggest that Müller cells play an important role in ZIKV-induced ocular pathology by induction of inflammatory and growth factors in which the p38MAPK pathway has a central role. Blocking p38MAPK may provide a novel approach to control ZIKV-induced ocular inflammation. [ABSTRACT FROM AUTHOR]

An estimated 1.4 million of the world's children are blind. A blind child is more likely to live in socioeconomic deprivation, to be more frequently hospitalised during childhood and to die in childhood than a child not living with blindness. This update of a previous review on childhood visual impairment focuses on emerging therapies for children with severe visual disability (severe visual impairment and blindness or SVI/BL).For children in higher income countries, cerebral visual impairment and optic nerve anomalies remain the most common causes of SVI/BL, while retinopathy of prematurity (ROP) and cataract are now the most common avoidable causes. The constellation of causes of childhood blindness in lower income settings is shifting from infective and nutritional corneal opacities and congenital anomalies to more resemble the patterns seen in higher income settings. Improvements in maternal and neonatal health and investment in and maintenance of national ophthalmic care infrastructure are the key to reducing the burden of avoidable blindness. New therapeutic targets are emerging for childhood visual disorders, although the safety and efficacy of novel therapies for diseases such as ROP or retinal dystrophies are not yet clear. Population-based epidemiological research, particularly on cerebral visual impairment and optic nerve hypoplasia, is needed in order to improve understanding of risk factors and to inform and support the development of novel therapies for disorders currently considered 'untreatable'. [ABSTRACT FROM AUTHOR]

Juvenile onset open angle glaucoma ( JOAG) affects patients before 40 years of age, who present with high intraocular pressure and deep steep cupping of the optic nerve head. While it was considered to be inherited in an autosomal dominant fashion, recent studies have shown an autosomal recessive pattern as well as sporadic occurrence of the disease in several families. In this review, we analyze the genetic basis of the disease along with common mutations and their association with JOAG. We also analyzed the inheritance patterns in a large group of unrelated JOAG patients ( n = 336) from Northern India wherein the prevalence of familial occurrence was assessed and segregation analysis performed, to determine the mode of inheritance. [ABSTRACT FROM AUTHOR]

Purpose: To study the potential effects of both prematurity and the sub-groups of low birth weight on thickness of RNFL.Methods: Prospective case series of 26 preterm school-aged children with low birth weight whose retinal nerve fiber layer analyses with RTVue-100 Fourier-domain optic coherence tomography were performed in 2013 at the Department of Ophthalmology, Erzurum Region Education and Training Hospital.Results: The mean retinal nerve fiber layer thicknesses were 100.6 ± 13.3 microns in extremely low birth weight, 103.9 ± 8.4 microns in very low birth weight, and 104.1 ± 10.8 microns in low birth weight groups. There was no significant difference in RNFL among the groups.Conclusions: No significant relationship was found between birth weights and retinal nerve fiber layer thickness of preterm children who were appropriate for gestational age. [ABSTRACT FROM AUTHOR]

Background Aicardi syndrome is a severe neurodevelopmental disorder characterized by infantile spasms, typical chorioretinal lacunae, agenesis of the corpus callosum, and other neuronal migration defects. It has been reported recently that de novo variants in TEAD1 and OCEL1 each may cause Aicardi syndrome in a single individual of a small cohort of females with this clinical diagnosis. These data were interpreted to suggest that the clinical diagnosis of Aicardi syndrome may be genetically heterogeneous. Methods To investigate this further, we sequenced TEAD1 and OCEL1 coding regions using DNA from 38 clinically well-characterized girls with Aicardi syndrome. Results We did not detect the previously reported or any other deleterious variants in any of the analyzed samples. Conclusions This suggests that the published variants represent either an extremely rare cause of Aicardi syndrome or an incidental finding. [ABSTRACT FROM AUTHOR]

For humans and non-human primates, the alteration of the visual pathway’s white matter fibers after visual deprivation has been partially explored. However, the changes in the optic tracts after the transection of the optic nerve have not been well characterized. In the current study, we attempted to investigate the differences in optic tracts between normal and unilateral optic nerve transected macaque monkeys using diffusion tensor imaging (DTI). Four healthy neonatal macaque monkeys were randomly divided into 2 groups, with 2 in each group. Group A served as a control group, and Group B underwent unilateral (right eye) optic nerve transection to produce monocular blindness. Sixteen months (Group B 16M) and thirty-two months (Group B 32M ) after optic nerve transection, diffusion tensor imaging was performed on all monkeys. Then, we compared fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD) and radial diffusivity (RD) in bilateral optic tracts between Group A and Group B and between Group B 16M and Group B 32M . In both Group B 16M and Group B 32M , when compared with normal monkeys in Group A, FA was decreased and MD, AD and RD were increased in the bilateral optic tracts of monkeys with monocular blindness. Furthermore, compared with Group B 16M , FA was reduced and MD, AD, RD were more obviously increased in the bilateral optic tracts of Group B 32M , and noticeable differences in MD, AD and RD were found between the left and right optic tracts in group B 32M . We believe that the results of this study would be helpful in investigation of the histological abnormalities of the integrity damage, axonal degeneration and demyelination of optic tracts in macaque monkeys with monocular blindness by DTI parameters in noninvasively and quantitatively. [ABSTRACT FROM AUTHOR]