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Cerebral Visual Impairment (CVI) is a disability that entails a visual deficit, due to a brain damage. Children affected by this disability are not able to see an object if it is not moving. In this paper, we present a study on the use of serious games in the assessment and rehabilitation of children with CVI. Our serious games help them keeping focused on the exercise by using touch interface, game paradigm and cartoon characters. The paper reports lesson learned from data collected in a user study to highlight the high potential of using these games also in the rehabilitation process. For this reason, we develop the games also in the mobile platforms to allow children to train their skills at home, i.e., more intensively and in a familiar environment.

The use of chemotherapy to manage newly diagnosed low grade glioma (LGG) was first introduced in the 1980s. One randomised trial has studied two- versus four-drug regimens with a duration of 12 months of treatment after resection.Within the European comprehensive treatment strategy for childhood LGG, the International Society of Paediatric Oncology-Low Grade Glioma (SIOP LGG) Committee launched a randomised trial involving 118 institutions and 11 countries to investigate the addition of etoposide (100 mg/mNo differences between the two arms were found in term of survival and radiological response. Response and non-progression rates at 24 weeks for VC and VCE, were 46% versus 41%, and 93% versus 91% respectively; 5-year Progression-Free Survival (PFS) and Overall Survival (OS) were 46% (StDev 3.5) versus 45% (StDev 3.5) and 89% (StDev 2.1) versus 89% (StDev 2.1) respectively. Age and diencephalic syndrome are adverse clinical risk factors for PFS and OS. 5-year OS for patients in early progression at week 24 were 46% (StDev 13.8) and 49% (StDev 16.5) in the two arms, respectively.The addition of etoposide to VC did not improve PFS or OS. High non-progression rates at 24 weeks justify retaining VC as standard first-line therapy. Infants with diencephalic syndrome and early progression need new treatments to be tested. Future trials should use neurological/visual and toxicity outcomes and be designed to discriminate between the impact on disease outcomes of 'duration of therapy' and 'age at stopping therapy'.

Background The use of chemotherapy to manage newly diagnosed low grade glioma (LGG) was first introduced in the 1980s. One randomised trial has studied two- versus four-drug regimens with a duration of 12 months of treatment after resection. Methods Within the European comprehensive treatment strategy for childhood LGG, the International Society of Paediatric Oncology–Low Grade Glioma (SIOP LGG) Committee launched a randomised trial involving 118 institutions and 11 countries to investigate the addition of etoposide (100 mg/m2, days 1, 2 & 3) to a four-course induction of vincristine (1.5 mg/m2 × 10 wkly) and carboplatin (550 mg/m2 q 3 weekly) as part of 18-month continuing treatment programme. Patients were recruited after imaging diagnosis, resection or biopsy with progressive disease/symptoms. Some 497 newly diagnosed patients (M/F 231/266; median age 4.26 years (interquartile range (IQR) 2.02–7.06)) were randomised to receive vincristine carboplatin (VC) (n = 249) or VC plus etoposide (VCE) during induction (n = 248), stratified by age and tumour site. Findings No differences between the two arms were found in term of survival and radiological response. Response and non-progression rates at 24 weeks for VC and VCE, were 46% versus 41%, and 93% versus 91% respectively; 5-year Progression-Free Survival (PFS) and Overall Survival (OS) were 46% (StDev 3.5) versus 45% (StDev 3.5) and 89% (StDev 2.1) versus 89% (StDev 2.1) respectively. Age and diencephalic syndrome are adverse clinical risk factors for PFS and OS. 5-year OS for patients in early progression at week 24 were 46% (StDev 13.8) and 49% (StDev 16.5) in the two arms, respectively. Interpretation The addition of etoposide to VC did not improve PFS or OS. High non-progression rates at 24 weeks justify retaining VC as standard first-line therapy. Infants with diencephalic syndrome and early progression need new treatments to be tested. Future trials should use neurological/visual and toxicity outcomes and be designed to discriminate between the impact on disease outcomes of ‘duration of therapy’ and ‘age at stopping therapy’., Highlights • A randomised trial in the commonest brain tumour type in children – low grade glioma. • Tumour response assessment at 6 months identifies those at greatest risk of subsequent progression and death. • Intensifying induction treatment with etoposide does not improve progression-free survival. • International consortium successfully recruits from 11 European countries in a childhood brain tumour. • Carboplatin hypersensitivity is reduced by coadministration of etoposide.

Corneal clouding or opacification is a prominent feature of mucopolysaccharidosis (MPS), particularly in MPS I and VI. In patients with marked corneal clouding and visual impairment, penetrating keratoplasty may be considered to improve the patient's vision, functional capacity and quality of life. In MPS, glycosaminoglycans mainly accumulate in the corneal stroma and not in Descemet's membrane or the endothelium, therefore deep anterior lamellar keratoplasty (DALK) may be preferred in these patients over penetrating keratoplasty. Although there are only limited data on the use of DALK in MPS (I and VI) patients, the results are generally favourable. Nonetheless, when deciding on whether to perform keratoplasty in patients with MPS, the risk of general anaesthesia due to potential concomitant cardio-pulmonary problems and cervical spine instability, the potential presence of other ocular manifestations that also impair vision (e.g. glaucoma, retinal degeneration and optic atrophy) and/or complications such as allograft rejection and the risk of re-opacification of the graft, all need to be taken into consideration. Limbal stem cell transplantation, which can be combined with keratoplasty, also holds potential promise in the treatment of these complex cases. A review of the indications, local and systemic risks, techniques of lamellar and penetrating keratoplasty, and the potential of limbal stem cell transplantation is provided in the context of corneal opacity in MPS.

An 8-year-old boy with recurrent acute bleeding of lymphangioma of the left orbit is described. D-dimer levels increased as the size of the mass became stable, showing the effect of fibrinolysis within the hemorrhagic mass after clotting. D-dimer levels confirmed the possible use of conservative management of this lymphangioma. [J Pediatr Ophthalmol Strabismus 2010;47:174–177.]

Congenital aniridia frequently causes severe visual impairment that is usually evident early in life. A precocious management of ocular complications is essential to prevent or limit low vision in these children. For planning rehabilitation treatment a complete opthalmological examination includes a careful visual assessment, using tests appropriate for the child’s age and ability to cooperate. Measurement of visual acuity is challenging in children, especially in infants or in patients with mental retardation (WAGR or Gillespie Syndrome). In such patients visual acuity can be evaluated with preferential looking test (Teller Acuity Cards). Starting from the 3 years of age, visual acuity can be evaluated with ETDRS charts. Management of children with aniridia and low vision is problematic: glare, reduced distance vision, reduced near vision due to foveal hypoplasia, fatigue, accommodation spasms, blurry vision, difficulty in distinguishing colors, anomalous head posture (compensatory positioning), nystagmus and the absence of stereopsis. The aim of rehabilitation is to improve visual performance though the correction of refractive errors, specific strategies and low vision aids, to reduce or relieve symptoms (glare, photophobia), and to promote learning, communication and daily living safety skills, and to foster social and scholastic participation and the child’s development and overall well-being.

The importance of an early visual assessment during infancy is due to the main role of vision in comprehensive development and to the correlation between early rehabilitative intervention and progress in visual function. More than 50% of children with low vision have also other impairments, therefore the visual assessment requires a multidisciplinary approach. Here we propose for discussion and comparison a detailed protocol we use at the Robert Hollman Foundation for multi-disabled infants from birth to 3 years old. This protocol is functional-diagnostic with the aim of individuating visually impaired children to give them the chance to start an early rehabilitation programme. It is composed by a diagnostic neuropthalmological assessment, which is done at the Centro Regionale per Ipovisione of Padua Hospital, and by a functional/rehabilitative assessment, which is done at the Robert Hollman Foundation. Particular importance is given to create the comprehensive conditions to enable the child to give his/her best performance during the assessment. In fact it has already been shown how the environmental conditions and the kind of stimuli are determinant in permitting an accurate evaluation of the visual situation of the infant. Moreover, in multi-disabled children, aspects like postural and non-verbal signs become fundamental in the visual assessment.

Visual electrophysiological techniques represent excellent means for assessing retinal, optic pathways and visual cortex function. Electroretinograms, visual evoked potentials, and clinical records of 17 patients with mucopolysaccharidosis registered in the neurophysiological database of our institution were reviewed retrospectively. Ten patients were on enzyme replacement therapy, 2 underwent bone marrow transplantation, one also keratoplasty. Changes in the electroretinogram pointed to the diagnosis of retinal dystrophy type rod-cone in 8 patients. In patients in whom severe corneal clouding precluded fundus oculi inspection and at an early stage before typical fundus appearance diagnosis was possible only using the electroretinogram. Visual evoked potentials were useful to confirm the loss of visual function in patients difficult to test clinically. The authors suggest the use of electroretinogram and visual evoked potentials primarily as research tools to describe the natural history and ophthalmologic outcome in mucopolysaccharidoses, although they may have clinical utility in very selected cases.

Purpose To study causal links between the visual, cognitive, and psychomotor outcomes of premature babies who are small for gestational age (SGA). Methods A cohort study of 17 SGA cases and 34 controls who were appropriate for gestational age (AGA) was carried out. The cases were all premature babies without any other pathology. All subjects underwent a visual, mental, and psychomotor evaluation at 1 year of age. Results Of the SGA cases, 41% had a “below normal” visual acuity versus 17.7% of the AGA controls. At 1 year of age the SGA babies showed an odds ratio of 18.73 for low visual acuity, 9.09 for low mental performance, and no significant risk for a decreased psychomotor performance. Conclusions In this small cohort of premature infants, the SGA babies were more prone to developing low visual performance and abnormal cognitive development.

Purpose To report our experience using the RetCam II to evaluate retinal pathology and morphology in children who did not cooperate for standard examination and to follow them by monitoring changes and development of the diseases Methods We reviewed charts of 107 consecutive uncooperative children with fundus abnormalities that were photographed using the RetCam as a routine part of patient care.Since 2004 detailed diagnostic examination with use of RetCam II was performed in children with ocular tumors, vitreo-retinal dysplasia, hereditary retinal dystrophies, ROP, congenital abnormalities of optic disc, retinal haemorrhages in shaking injury, neuroretinitis. All eyes were dilated with 1% tropicamide. 0.4% oxibuprocaine drops were used prior image acquisition. A blefarostat was used to keep the eye lids wide apart during the examination.The children were directed to lie supine, under sedation. Results The authors report cases series: 7 cases of Ret Cam imaging (2 siblings with gyrate atrophy of the choroid and retina after reduction of plasma ornithine with diet; 1 Pedler’s coloboma with overlay of the peripapillary retina,2 cases with retinal haemorrhages in shaking injury in the acute phase and until the bleeding reabsorption,1 infant with early onset autosomal dominant hereditary rod-cone dystrophy , 1 optic nerve glioma extending to the retina, 1 case with chorioretinal dysplasia in systemic disease. Conclusion In this study analysis of RetCam digital images allowed to evaluate objectively, to determine exactly the areas of the disease, and to estimate changes and worsening.In our cases series the wide-field digital ophthalmic camera provided a new tool for the evaluation and precise documentation in paediatric retinal disease.

Purpose To study the relationship between the location of orbital and palpebral(eyelid)hemangiomas and ocular problems in children and the interventions needed to prevent or reduce the severity of visual impairment. Methods This study included 12 cases (10 female and 1 male;age range:1 day to 5 months old at first evaluation;mean age 2,5 months)of eyelid and/or orbit hemangiomas gathered over a 6 year period (2005-2011).Ultrasonography and magnetic resonance imaging(MRI)identified these lesions to be:palpebral in 2 cases, palpebral and orbital involvement in 9 cases.Pediatric and ophthalmological evaluation(orthoptic examination,visual acuity determination with Teller Acuity Cards,refractometry and fundus opthalmoscopy)were performed in all cases. Results The mean follow-up was 36 months (range 11-63 months) Treatments for infants and children with hemangiomas obstructing the visual axis included oral steroid administration(9 cases);in 1 case a surgical treatment was associated.4 cases developed amblyopia and 1 case strabismus.Treatment of early amblyopia through selective patching part-time patch occlusion of the uninvolved eye and early prescription of astigmatism correction was performed.10 children achieved normal vision at last evaluation. Conclusion In our study 10 patients treated for visual impairment and available for long-term follow-up showed an excellent functional outcome with no residual amblyopia.In most cases,early intervention to address hemangioma-related visual disturbances can lead to a good functional outcome. Intervention typically involves medical debulking of the hemangioma(using oral steroids)combined with the treatment of early amblyopia through selective patching and/or optical correction with refractive lenses.

Our visual percepts are not fully determined by physical stimulus inputs. Thus, in visual illusions such as the Kanizsa figure, inducers presented at the corners allow one to perceive the bounding contours of the figure in the absence of luminance-defined borders. We examined the discrimination of the curvature of these illusory contours that pass across retinal scotomas caused by macular degeneration. In contrast with previous studies with normal-sighted subjects that showed no perception of these illusory contours in the region of physiological scotomas at the optic nerve head, we demonstrated perfect discrimination of the curvature of the illusory contours over the pathological retinal scotoma. The illusion occurred despite the large scar around the macular lesion, strongly reducing discrimination of whether the inducer openings were acute or obtuse and suggesting that the coarse information in the inducers (low spatial frequency) sufficed. The result that subjective contours can pass through the pathological retinal scotoma suggests that the visual cortex, despite the loss of bottom-up input, can use low-spatial frequency information from the inducers to form a neural representation of new complex geometrical shapes inside the scotoma.

Background Few studies provide follow-up information or systematic investigation of prognostic parameters of nonorganic (psychogenic) visual loss in children. Methods A retrospective case series analysis was performed on 58 patients younger than 16 years old who had nonorganic visual loss and underwent at least a 3-month follow-up clinic visit and/or telephone interview between 1992 and 2007 at a single institution in Italy. All patients underwent a full neurologic, ophthalmologic, and orthoptic evaluation. Visual electrophysiologic tests were performed in many patients as part of the evaluation. Neuroimaging was performed and psychiatric referral was made only as needed. We collected data on the age at onset, time to diagnosis of nonorganic visual loss, type and duration of visual symptoms, and concomitant psychologic or psychosocial difficulties. Results Visual deficits consisted mostly of reduced visual acuity (76%) and visual field defects (48%). The diagnosis of nonorganic visual loss could be reached with confidence by means of observing inconsistent performance on a wide array of visual function tests, and, in doubtful cases, by means of electrophysiologic investigations. The mean time from onset to diagnosis was 3.1 months. The mean duration of visual symptoms from reported onset to disappearance was 7.4 months. Complete resolution of all visual symptoms occurred in 93% of patients and did so within 12 months of diagnosis in 85% of patients. There was no correlation between the duration of visual symptoms and age at onset, sex, time to diagnosis, type of ocular symptoms, or presence of psychosocial or psychologic difficulties. Conclusions Our study extends the follow-up information and confirms the findings of previous investigators in showing that nonorganic visual loss in children generally resolves spontaneously within 1 year and that no major psychiatric disorders are present or will appear after diagnosis. However, psychosocial stressors are often present and may predispose to this manifestation. There are no obvious predictors of rate of recovery.

Purpose To evaluate the ocular findings and the visual outcome in a group of patients with mucopolysaccaridoses(MPS) followed and treated with new therapeutic options. Methods 18 pazients with MPS (9 males and 9 females) were examinated: 3 cases with MPS type I, 4 with MPS type II,7 with MPS type III, 1 with MPS type IV and 3 with MPS type VI. The patients underwent an ophthalmological assessment with : visual acuity (with Teller Acuity Cards, Lea Symbols o letter chart, depending on patient age or degree of cohoperation), slit-lamp examination, fundus ophthalmoscopy, intraocular pressure, refractometry, electroretinography and eye echography. Results The mean follow-up was 48 months (ranged from 3 to 190 months).The mean age at first ophtalmologic evaluation was 6,9 years ( ranged from 1 to 20 years). 8 case presented progressive corneal clouding, 5 case retinal pigmentary degeneration, and 1 papilledema. Visual acuity worsened severely in 3 cases with MPS type I: 1 case from 10/10 to 5/10, 1 case from 5/10 to 1/10; in another case visual acuity decreased to 1/20 and underwent to corneal transplantation with good visual outcome (RE 5/10 and LE 7/10). The other cases showed slightly reduction of visual function. 3 patients had ocular hypertension and were treated with hypotensive eye drops. 8 patients underwent enzyme replacement therapy. Conclusion The mucopolysaccaridoses(MPS) are rare systemic disorders caused by accumulation of glycosaminoglycans. Ophthalmological manifestations are frequent in MPS, particularly in MPS I, II and VI, characterized by corneal clouding, retinal distrophy and blindness.Regular ophthalmic monitoring to determine disease progression and management of complications are necessary as a part of multidisciplinary approach.

Purpose To study long-term outcome of SBS on visual and cognitive functions. Methods Case series of 10 children (7 M, 3 F) with confirmed SBS has been examined and followed-up. All chldren underwent a fundus evaluation by indirect ophtalmoscopy and wide-field digital ophtalmic camera (RetCam II) in the acute phase and until retinal hemorrhage resorption. The assessment was repeated at follow-up combined with ocular motility evaluation, visual field (BEFIE test), visual acuity by preferential looking tecnique (teller acuity cards), refractometry, cognitive-behavioural evaluations (Griffiths scales, Child Behaviour Check List), and family stress measurement (Parenting Stress Index). Results Mean age at acute episode of SBS: 6 months (range 2-20). Mean age at last follow-up evaluation: 27.6 months (range 4.5-41). At last follow-up evaluation: 1 out of 6 had a decreased visual acuity (cortical visual impairment), 3 out of 6 had mild-severe visual field deficits, 3 out of 6 has strabismus. None of the cases showed significant refractive errors. Due to age or severity of impairment and delay in global development, in any of the cases we were able to perform a recognition acuity test by symbols or E-charts. Cognitive and behavioural assessment demonstrated global delay and impaiments in speech/language development and attention problems. Conclusion SBS is characterized by severe long-term sequelae both in visual and cognitive function. Several visual impairments are observed, mainly related to cortial injury of visuo-spatial area. Although follow-up is difficult due to family history, there is strong indication for global assessment until scholar age where other impairments are demonstrated.

Purpose: Describe the long term follow-up of children affected by congenital achromatopsia (CA). CA is a rare recessive inherited vision disorder (1:50000) and includes two clinical categories: complete CA and incomplete CA. Methods: Fourteen children (9 M, 5 F) were followed-up and a rehabilitation individual program was carried out. The assessment included: far and near visual acuity (Teller, Lea Symbols, Snellen Charts),refraction, color vision (Farnsworth, Ishihara, Montessori), contrast sensitivity, visual field, slit lamp examination, fundus ophthalmoscopy, electrophysiologic tests (photopic, scotopic and flicker ERG and VEPs) and genetic examination. Results: Early onset of nystagmus, low vision and photophobia are first clinical manifestations of CA. The differential diagnosis includes Leber Amaurosis, and congenital nystagmus and albinism. Visual acuity in our patients is around 1/10 and it is worse for near. Refractive errors showed a distribution toward hyperopia (50%) and emmetropia (35%). Macular hypoplasia is present in all cases and electrophysiology showed a reduced or absent photopic ERG, while scotopic system appears normal. Conclusions: Due to abnormal or totally absent cone function, which lead to macular hypoplasia, CA shows reduced visual acuity, absent/severely impaired color vision, nystagmus and photophobia. Low vision aids such as telescopic systems and magnification devices along with OCR/ICR software were prescribed after a carefully evaluation. Spectral filters were early prescribed to reduce photophobia and improve vision. The molecular analysis may confirm the diagnosis and give genetic couseling to the family. An early detection of CA is underlined by the importance to carry out a complete and precocious rehabilitative approach.

We evaluated the visual outcome of a cohort of children with neurofibromatosis type 1 (NF1) and optic pathway glioma (OPG) treated according to standardized therapeutic guidelines. The study population consisted of all consecutive patients with NF1 and OPG referred to a specialized pediatric neuro-oncology program between 1994 and 2004. Treatment was instituted only in cases of progressive disease or clinical deterioration. Treatment modalities were chemotherapy (based on vincristine/carboplatin) for children younger than 5 years and radiotherapy for all others. Ten boys and 10 girls (seven with a positive family history) entered the trial (median age at diagnosis of OPG, 29 months). At a median follow-up time of 78 months, seven patients had been treated with chemotherapy only, four with radiotherapy, and four with chemotherapy plus radiotherapy. Five patients were observed only. Currently, 18 are alive and two have died. Eight patients were treated for progressive visual loss in the face of stable disease, five for tumor volume increase without visual deterioration, and two for symptomatic tumor volume increase. At referral, six children had a visual acuity (VA) of < 30% in both eyes; eight children had 100% VA bilaterally. At referral, the visual field (VF) could be assessed in three children: One had VF loss in both eyes, one had VF loss in one eye, and one had normal VF. At last follow-up, eight children had VA < 20% in both eyes; only two children had 100% VA in both eyes. Among 11 children who had some visual function, three had VF loss in one eye and three in both eyes, and five had an intact VF. Contrast and color sensitivity were abnormal in seven and six patients, respectively. Thirteen children fell into the WHO hypovision category. In summary, among the 15 children treated, one had a definitive and two a mild improvement in VA. In conclusion, the visual outcome of this selected cohort of NF1 patients with OPG is unsatisfactory. A critical reappraisal of the therapeutic strategy adopted is needed.

To determine whether demographic, clinical, and laboratory variables at onset of arthritis can predict the development and the severity of anterior uveitis (AU) in oligoarticular juvenile idiopathic arthritis (JIA).In a retrospective study, a cohort of 366 patients with oligoarticular onset JIA from 3 pediatric rheumatology centers were evaluated. Patients were classified in 3 groups: severe uveitis (SU) with a mean/= 2 uveitis relapses/year with complications or need for immunosuppressive therapy; mild uveitis (MU) with a mean/= 1 uveitis relapse/year with no complications; and no uveitis. Variables that were significant with univariate tests or were clinically relevant for each outcome underwent multivariate logistic regression analysis.There were 316 patients available for analyses: 66 in the SU group, 64 in the MU group, and 186 in the no uveitis group. Multivariate analysis showed the following factors to be significant as predictors of AU onset: low age at onset (OR 0.96), a2-globulin plasma concentration (OR 1.34), and HLA-A19 (OR 2.87), B22 (OR 4.51) and DR9 (OR 2.33), while HLA-DR1 conferred protection (OR 0.13). This model was not good in predicting which patient would develop uveitis (sensitivity 55%, specificity 26%). Time interval between onset of arthritis and the first AU and elevated a2-globulin level in the serum were the best predictors of AU severity (OR 1.62 and 0.85, respectively). When applied prospectively, the model revealed good sensitivity (89.2%), specificity (76.1%), and efficiency (86.3%).Clinical and laboratory variables measurable at onset of arthritis can be used to predict severity of the course of AU in oligoarticular JIA, but not its onset. More accurate prediction can shorten or lengthen the intervals between ophthalmologic evaluations and can change the therapeutic approach undertaken on the basis of expected disease severity.

A girl with HIV infection acquired at birth by blood transfusion, was admitted at the age of 10 years for diplopia, vomiting, headache and papilledema. CT scan was negative. A lumbar puncture revealed clear CSF, protein 0.40 g/l, glucose 2 mmol/l, 5 mononuclear cells/mm3. The Indian ink preparation and the latex agglutination antigen test were positive for Cryptococcus n. Treatment with amphotericin B and flucytosine was started. After 10 days, since the in vitro susceptibility testing of the isolates showed resistence to both drugs, fluconazolo (400 mg/day) was started. Acetazolamide, furosemide and spironolactone were then added to the antifungal therapy for the persistence of severe intracranial hypertension. Diuretics were maintained for 10 weeks. The patient returned to school two and half months after the admission to the hospital. After 19 months, she is doing well and she is on maintenance of fluconazole (200 mg/day). We hypothesized that the increased intracranial pressure would be due to an impaired CSF reabsorption probably as a consequence of a direct cryptococcal infiltration of the villi.