Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation.

CHARGE syndrome (CS) is a rare genetic disease causing multiple anatomical defects and sensory impairment. Visual function is usually reported by caregivers and has never been described with a structured behavioral assessment. Our primary objective was to describe ocular abnormalities, visual function and genotype-ocular-phenotype correlation in CS. A prospective monocentric cohort study was performed on 14 children with CS carrying pathogenic CHD7 variants. All children underwent ophthalmological evaluation and structured behavioral assessment of visual function. The VISIOCHARGE questionnaire was administered to parents. Colobomas were present in 93% of patients. Genotype-phenotype correlation documented mitigated features in a subset of patients with intronic pathogenic variants predicted to affect transcript processing, and severe features in patients with frameshift/nonsense variants predicting protein truncation at the N-terminus. Abnormal visual function was present in all subjects, with different degrees of impairment. A significant correlation was found between visual function and age at assessment (p-value = 0.025). The present data are the first to characterize visual function in CS patients. They suggest that hypomorphic variants might be associated with milder features, and that visual function appears to be related to age. While studies with larger cohorts are required for confirmation, our data indicate that experience appears to influence everyday use of visual function more than ocular abnormalities do.

A Systematic Review of the Clinical Manifestations and Diagnostic Methods for Macular Coloboma.

Objectives: To present the clinical features of and diagnostic methods used for macular coloboma (MC), and to analyze the factors associated with best-corrected visual acuity (BCVA) in patients with MC.Methods: A systematic review using the MEDLINE (PubMed), EMBASE, LILACS, and Cochrane databases was performed. The factors associated with BCVA were analyzed.Results: A total of 21 patients (mean age at diagnosis, 18.1 ± 14.6 years) with 36 eyes affected by MC (5 unilateral, 16 bilateral) were included in the study. All 21 patients (100%) had undergone a good-quality fundus examination. The size of the MC lesions ranged from 1.0 × 1.2 to 4.0 × 4.0 disc diameters (DD). Twenty-seven (73%) eyes had pigmented MC, seven (19%) had non-pigmented MC, and one (3%) had an unspecific type. The diagnosis was confirmed using spectral-domain optical coherence tomography (SD-OCT) in 16 (43.2%) eyes. A positive correlation was found between BCVA and the type of MC (ß = 0.876, p = .006) and abnormal eye movement (ß = 0.087, p = .018), and a negative correlation was found between BCVA and a contributory medical history of ventricular septal defect (ß = -0.327, p = .001).Conclusions: Pigmented MC was the most common type and had the highest possibility of causing impaired vision in the affected eyes. Additionally, joint examinations should be applied for diagnostic confirmation of MC. Furthermore, fundoscopy, electroretinogram, electrooculography, fundus fluorescein angiography, and SD-OCT are all critical for differential diagnosis of MC-like lesions.

Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.

AIMS: To describe the clinical features, visual acuity and causes of ocular morbidity in children (0-18 years) with microphthalmos, anophthalmos, and coloboma (MAC) from North India. METHODS: A retrospective study conducted between October 2017 and September 2018 in three tertiary eye institutes, part of the Bodhya Eye Consortium with consensus led common pro formas. Children with complete clinical data and without syndromic/systemic involvement were included. The clinical phenotype was divided into isolated ocular coloboma (CB), coloboma with microcornea (CBMC), colobomatous microphthalmos (CBMO), non-colobomatous microphthalmos (MO) and anophthalmos (AO). RESULTS: A total of 532 children with MAC were examined. Seventeen records were excluded due to incomplete data (0.2%). 515 children (845 eyes) were included: 54.4% males and 45.6% females. MAC was unilateral in 36% and bilateral in 64%. CB, CBMC, CBMO, MO and AO were seen in 26.4%, 31%, 22%, 8% and 12.5% of eyes, respectively. Nystagmus was found in 40%, strabismus in 23%, cataract in 18.7% and retinal detachment in 15%. Best-corrected visual acuity (BCVA) of <3/60 was seen in 62.4% eyes. Blindness (BCVA <3/60 in better eye) was seen in 42.8% of bilateral patients. Those with microcornea or microphthalmos with coloboma had worse BCVA (p<0.001). There were regional differences in the type of MAC phenotype presenting to the three institutes. CONCLUSION: The MAC group of disorders cause significant ocular morbidity. The presence of microcornea or microphthalmos with coloboma predicts worse BCVA. The variation of the MAC phenotype with the district of origin of the patient raises questions of aetiology and is subject to further studies.

Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition.

BNAR syndrome (MIM608980) is a very rare condition: nine cases belonging to three unrelated families were reported since its first description in 2002. The distinctive clinical feature is the bifidity of the tip of the nose and its association with anorectal and/or renal anomalies. Its molecular basis consisting of biallelic FREM1 missense or nonsense mutations was elucidated after studying the original Egyptian family and was confirmed in two families originating from Afghanistan and Pakistan. We describe a fourth family originating from Turkey with signs challenging the diagnostic criteria suggested by the description of the three reported families.

Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum.

Mutations in the chromatin regulator gene BRPF1 were recently associated with the Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis (IDDDFP). Up till now, clinical data of 22 patients are reported. Besides intellectual disability (ID), ptosis and blepharophimosis are frequent findings, with refraction problems, amblyopia and strabism as other reported ophthalmological features. Animal studies indicate BRPF1 as an important mediator in brain development. However, only 5 of 22 previously reported patients show structural brain abnormalities. We report on an additional patient harboring a novel de novo nonsense mutation p.(Glu219*) in BRPF1. He presented with ID, bilateral iris colobomas, facial nerve palsy and severe hypoplasia of the corpus callosum. Our findings support previous findings of brain abnormalities in BRPF1-mutations and indicates coloboma and facial nerve palsy as possible additional features of IDDDFP syndrome.

Bilateral congenital macular coloboma and cataract: A case report.

RATIONALE: The case with congenital macular coloboma and cataract was rarely reported, and the pathogenic gene of the disease is still not clear. Moreover, it is difficult to improve the visual acuity of the eye with this disease. PATIENT CONCERNS: An 11-year-old boy presented low visual acuity and horizontal nystagmus in both eyes. Ophthalmologic examination showed the patient with bilateral congenital coloboma and cataract. The visual acuity of the patient improved slightly after cataract surgery. Heterozygous mutations of frizzled-4 (FZD4) and nucleotide-binding oligomerization domain-containing protein 2 (NOD2) were identified by next-generation sequencing in this case. DIAGNOSIS: Congenital macular coloboma and cataract of both eyes. INTERVENTIONS: We performed the standard phacoemulsification and intraocular lens implantation on both eyes of the patient for the treatment of congenital cataract, and then followed up the fundus lesions regularly. OUTCOMES: Cataract surgery may improve the visual acuity of the eyes with congenital macular coloboma and cataract at some degree, but the vision of this patient was still very poor postoperatively. Furthermore, the heterozygous mutations of FZD4 and NOD2 were found in this patient. LESSONS: Cataract surgery may improve the visual acuity of the eyes with congenital macular coloboma and cataract at some degree, and heterozygous mutations of FZD4 and NOD2 may be involved in the occurrence of congenital macular coloboma and cataract.

Optic Disc Coloboma in children - prevalence, clinical characteristics and associated morbidity.

PURPOSE: The aim of the study was to report prevalence, ocular outcome, neurological characteristics, cognitive and behavioural problems in children with optic disc coloboma (ODC). METHODS: This was a population-based, cross-sectional study of 31 children between 2 and 18 years of age diagnosed with ODC. The children were part of a larger cohort of 184 children with congenital optic disc malformations. Clinical ophthalmological examinations, neurological assessments, behavioural and developmental screening were performed. RESULTS: The prevalence of ODC was 8.9/100 000 children. Of the 31 patients, 18 had unilateral ODC (p = 0.21). The best-corrected visual acuity (BCVA) in the ODC eye ranged from blindness to 1.3 (median 0.3). BCVA was 0.82 in eyes with an isolated ODC (range 0.4-1.3) and 0.15 (range 0-0.5) in eyes with concurrent macular involvement (p < 0.0001). Nystagmus was observed more often in patients with bilateral ODC (9/13 versus 3/17, p = 0.004). Two patients had retinal detachment. Behavioural/psychological screening was performed in 21 patients with severe deficits identified in six cases. Intellectual disability was present in seven patients. Neurological dysfunction was diagnosed in 8/22 cases. All of the above children had already systemic diagnoses before the ODC diagnosis was made. CONCLUSIONS: ODC was the second most common optic disc malformation in this cohort after optic nerve hypoplasia. The children had a wide range of ocular comorbidity. An isolated ODC without macular involvement was not associated with profound vision loss. The ability of screening in the regular child care centres to diagnose extraocular comorbidities was very good and referral to a paediatrician appears redundant in cases of normal development.

The cellular bases of choroid fissure formation and closure.

Defects in choroid fissure (CF) formation and closure lead to coloboma, a major cause of childhood blindness. Despite genetic advances, the cellular defects underlying coloboma remain poorly elucidated due to our limited understanding of normal CF morphogenesis. We address this deficit by conducting high-resolution spatio-temporal analyses of CF formation and closure in the chick, mouse and fish. We show that a small ventral midline invagination initiates CF formation in the medial-proximal optic cup, subsequently extending it dorsally toward the lens, and proximally into the optic stalk. Unlike previously supposed, the optic disc does not form solely as a result of this invagination. Morphogenetic events that alter the shape of the proximal optic cup also direct clusters of outer layer and optic stalk cells to form dorsal optic disc. A cross-species comparison suggests that CF closure can be accomplished by breaking down basement membranes (BM) along the CF margins, and by establishing BM continuity along the dorsal and ventral surfaces of the CF. CF closure is subsequently accomplished via two distinct mechanisms: tissue fusion or the intercalation of various tissues into the inter-CF space. We identify several novel cell behaviors that underlie CF fusion, many of which involve remodeling of the retinal epithelium. In addition to BM disruption, these include NCAD downregulation along the SOX2+ retinal CF margin, and the protrusion or movement of partially polarized retinal cells into the inter-CF space to mediate fusion. Proximally, the inter-CF space does not fuse or narrow and is instead loosely packed with migrating SOX2+/PAX2+/Vimentin+ astrocytes until it is closed by the outgoing optic nerve. Taken together, our results highlight distinct proximal-distal differences in CF morphogenesis and closure and establish detailed cellular models that can be utilized for understanding the genetic bases of coloboma.

Functional vision and quality of life in children with microphthalmia/anophthalmia/coloboma-a cross-sectional study.

PURPOSE: To determine the child's and parental perception of functional visual ability (FVA), vision-related and health-related quality of life (VR-QoL, HR-QoL) in children with microphthalmia/anophthalmia/coloboma (MAC). METHODS: Between June 25, 2014, and June 3, 2015, we carried out a cross-sectional observational study at Moorfields Eye Hospital, London, UK, enrolling 45 children 2-16 years of age with MAC attending our clinics, and their parents. To assess FVA, VR-QoL, and HR-QoL we asked participants to complete three validated tools, the Cardiff Visual Ability Questionnaire for Children (CVAQC), the Impact of Vision Impairment for Children (IVI-C) instrument, and the PedsQL V 4.0. The main outcome measures were the FVA, VR-QoL, and HR-QoL scores, reported by children and parents. RESULTS: In children with MAC, FVA is moderately reduced, with a median CVAQC score of -1.4 (IQR, -2.4 to 0.4; range, -3.0 [higher FVA] to +2.8 [lower FVA]). VR-QoL and HR-QoL are greatly reduced, with an IVI-C median score of 63 (IQR, 52-66; normal VR-QoL, 96), a median self-reported PedsQL score of 77 (IQR, 71-90; normal HR-QoL, 100) and parental score of 79 (IQR, 61-93), and a family impact score of 81 (67-93). Psychosocial well-being scores are lower than physical well-being scores. Parents and children have a different perception of the impact of the condition on the child's HR-QoL. CONCLUSIONS: MAC has a significant impact on a child's FVA and QoL, similar to that described by children with acute lymphoblastic leukaemia and chronic systemic conditions. Children and families may benefit from psychosocial support.

Low-vision aids improve the visual performance of children with bilateral chorioretinal coloboma.

PURPOSE: To quantify the improvements in visual performance for both distance and near tasks attained by children with bilateral chorioretinal coloboma (CRC) with use of low-vision aids (LVAs). METHODS: This was a hospital-based, cross-sectional, interventional case series of children with bilateral CRC. Demographic data were collected through a structured questionnaire and review of medical records. Distance and near best-corrected visual acuity, contrast sensitivity, and reading speed were evaluated with refractive correction alone and with the use of LVAs (Keplerian telescopes for distance; handheld magnifiers and a tinted lens [400 nm filter] for near). Effects are presented as medians of differences with 95% binomial-exact confidence intervals. RESULTS: Six children were included (median age, 11.5 years; range, 7-17 years), of whom 5 were already using LVAs on a daily basis. The use of a Keplerian telescope achieved a significant median improvement in distance best-corrected visual acuity of 0.75 logMAR (95% CI, 0.20-1.20). Contrast sensitivity was also improved across all tested spatial frequencies. Use of near LVAs resulted in a significant median improvement in near reading acuity of 0.47 logRAD (95% CI, 0.28-0.90). Critical print size and reading speed at N10 were also improved. CONCLUSIONS: LVAs enable meaningful improvements in the visual performance of children with bilateral CRC, allowing noteworthy increases in distance and near visual acuities as well as good reading speeds at small print sizes.

A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.

Cryptophthalmos (CO, MIM: 123570) is rare congenital anomalies of eyelid formation, which can occur alone or in combination with multiple congenital anomalies as part of Fraser syndrome (FS) or Manitoba Oculotrichoanal syndrome. Causal mutations have been identified for these syndromes but not in the isolated cases. Here, we described two patients from two unrelated Chinese families: one with unilateral isolated CO, while the other with unilateral CO and renal agenesis. A novel homozygous mutation (c.6499C>T: p.Arg2167Trp) and compound heterozygote mutations (c.15delG; c.6499C>T: p.Arg2167Trp) in FREM2 (NM_172862) were identified for the two patients, respectively. The deletion mutation c.15delG resulted in a frameshift and triggered the nonsense-mediated mRNA decay. For the shared missense mutation, p.Arg2167Trp altered a conserved residue and was predicted to affect protein structure by in silico analysis. Functional analysis revealed that Arg2167Trp mutant decreased its interaction with FRAS1 related extracellular matrix 1 (FREM1) and impaired the function of the FRAS1-FRAS1 related extracellular matrix 1 (FREM2)-FREM1 ternary complex required for normal embryogenesis. Furthermore, considering that mutation (c.5914C>T: p.Glu1972Lys) in FREM2 causes FS, a severe systemic disorder, we also compared these two different missense mutations. Our results showed that p.Arg2167Trp had a weaker effect in interrupting interactions between FREM2 and FREM1 than FS-associated missense mutation p.Glu1972Lys. Overall, our data demonstrate that the homozygous mutation p.Arg2167Trp in FREM2 causes isolated CO, which will facilitate our better understanding of the molecular mechanisms underlying the disease.

Surgical technique for management of isolated lenticular coloboma with high corneal astigmatism.

We describe a surgical technique for the correction of isolated congenital lenticular coloboma associated with high corneal astigmatism. Transscleral fixation of the capsular bag with a single eyelet Cionni capsular tension ring was followed by in-the-bag implantation of a toric intraocular lens (IOL). This lead to complete correction of the lenticular defect and perfect alignment of the toric lens. In this case, the child attained an unaided distance visual acuity of 20/30 following amblyopia therapy and a well-aligned toric IOL at 12 months of follow-up. This technique can be used in cases with concomitant lenticular coloboma and significant corneal astigmatism.

Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases.

OBJECTIVE: Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD). Recently, we clarified the AS diagnostic criteria and its severe phenotype. However, genetic evidence of AS remains unknown. We explored causative genes of AS and compared the clinical and genetic features of AS with the other JSRD. PATIENTS AND METHODS: We performed genetic analyses of 4 AS patients of 3 families with combination of whole-exome sequencing and Sanger sequencing. Furthermore, we studied cell biology with the cultured fibroblasts of 3 AS patients. RESULTS: All patients had a specific homozygous variant (c.6012-12T>A, p.Arg2004Serfs*7) or compound heterozygous variants (c.1711+1G>A; c.6012-12T>A, p.Gly570Aspfs*19;Arg2004Serfs*7) in centrosomal protein 290 kDa (CEP290) gene. These unique variants lead to abnormal splicing and premature termination. Morphological analysis of cultured fibroblasts from AS patients revealed a marked decrease of the CEP290-positive cell number with significantly longer cilium and naked and protruded ciliary axoneme without ciliary membrane into the cytoplasm. CONCLUSION: AS resulted in cilia dysfunction from centrosome disruption. The unique variant of CEP290 could be strongly linked to AS pathology. Here, we provided AS specific genetic evidence, which steers the structure and functions of centrosome that is responsible for normal ciliogenesis. This is the first report that has demonstrated the molecular basis of Arima syndrome.

Three Cases of Associated Persistent Fetal Vasculature and Ocular Coloboma: Posterior Segment Dysgenesis.

The authors discuss the association of persistent fetal vasculature and ocular coloboma in three children. They explore the possibility of a cause-effect relationship between these disorders, and link them together as a broader posterior dysgenesis. [J Pediatr Ophthalmol Strabismus. 2017;54:e77-e80.].

Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.

CHIME syndrome is a rare autosomal recessive neuroectodermal disorder associated with biallelic mutations in PIGL. To date, six molecularly confirmed cases of CHIME syndrome have been reported. Here, we report the seventh patient with biallelic PIGL mutations associated with CHIME syndrome and describe the first characterization of an intragenic deletion in PIGL. Our characterization of the deletion breakpoint junction demonstrated that the breakpoints occurred within Alu repeats and the deletion was most likely mediated by a microhomology event. Analysis of PIGL genomic sequences for repetitive elements demonstrated that Alu repeats represent ∼34% of its intronic sequence, suggesting that the genomic architecture may predispose the gene to disease-causing copynumber changes. Taken together, these findings indicate that patients with a clinical diagnosis of CHIME syndrome and a single identifiable mutation in PIGL warrant further investigation for copynumber changes involving PIGL.

Desprendimiento seroso macular asociado a foseta papilar congénita y coloboma de papila: ¿Qué opciones terapéuticas tenemos? / Macular serous detachment associated to congenital papillary pit and papillary coloboma: What treatment options do we have?

La foseta papilar es una rara anomalía congénita que forma parte del espectro de las anormalidades congénitas del disco óptico. Se trata de invaginaciones intrapapilares que suelen localizarse en el margen del disco óptico. La mayoría se localiza a nivel temporal; en torno al 20 por ciento son de localización central seguidas por las fosetas superiores, inferiores o nasales. La bilateralidad se estima en un 10-15 por ciento y su incidencia se ha establecido en torno al 0,19 por ciento. Suelen ser asintomáticas, aunque en aproximadamente el 50 por ciento de los casos se produce afectación macular por el paso de fluido procedente desde la foseta papilar hacia las diferentes capas retinianas, lo que afecta secundariamente la agudeza visual y es, por tanto, el motivo de consulta. Hasta el momento se han descrito múltiples alternativas terapéuticas para el tratamiento de los desprendimientos de retina serosos asociados a foseta de papila, pero ninguna de estas alternativas se ha impuesto sobre el resto. El tratamiento de esta enfermedad consiste en cerrar la comunicación entre la foseta y el espacio subretiniano con diversas opciones terapéuticas como: la fotocoagulación láser, la neumoretinopexia, la indentación escleral posterior, la fenestración del nervio óptico, la vitrectomía o alguna combinación de las anteriores. La actual revisión bibliográfica se propone profundizar en el tema, sobre la base de pacientes en consulta con dicha afección retiniana(AU)

Papillary pit is a rare congenital anomaly that is part of the congenital optic disc anomaly spectrum. It deals with intrapapillary invaginations that may be located at the border of the optic disc. Most of them is located at temporal level, around 20 percent are located centrally followed by upper, lower and nasal pits. Bilateral pits are estimated to be 10-15 percent and their incidence has been set at 0.19 percent. They are asymptomatic although 50 percent of cases suffer macular damage due to the passing of fluid from the papillary pit to the different retinal layers, which affecgs in a secondary way the visual acuity and thus it is the reason to go to the ophthalmologist. Multiple therapeutic alternatives for the treatment of papillary pit-associated serous retinal detachments have been described but none of them has predominated over the others. The treatment of this disease consists of closing the communication between the pit and the subretinal space with several therapeutic options such as laser photocoagulation, pneumoretinopexia, posterior scleral indentation, optic nerve fenestration, vitrectomy or any combination of the above-mentioned methods(AU)

Desprendimiento seroso macular asociado a foseta papilar congénita y coloboma de papila: ¿Qué opciones terapéuticas tenemos? / Macular serous detachment associated to congenital papillary pit and papillary coloboma: What treatment options do we have?

La foseta papilar es una rara anomalía congénita que forma parte del espectro de las anormalidades congénitas del disco óptico. Se trata de invaginaciones intrapapilares que suelen localizarse en el margen del disco óptico. La mayoría se localiza a nivel temporal; en torno al 20 por ciento son de localización central seguidas por las fosetas superiores, inferiores o nasales. La bilateralidad se estima en un 10-15 por ciento y su incidencia se ha establecido en torno al 0,19 por ciento. Suelen ser asintomáticas, aunque en aproximadamente el 50 por ciento de los casos se produce afectación macular por el paso de fluido procedente desde la foseta papilar hacia las diferentes capas retinianas, lo que afecta secundariamente la agudeza visual y es, por tanto, el motivo de consulta. Hasta el momento se han descrito múltiples alternativas terapéuticas para el tratamiento de los desprendimientos de retina serosos asociados a foseta de papila, pero ninguna de estas alternativas se ha impuesto sobre el resto. El tratamiento de esta enfermedad consiste en cerrar la comunicación entre la foseta y el espacio subretiniano con diversas opciones terapéuticas como: la fotocoagulación láser, la neumoretinopexia, la indentación escleral posterior, la fenestración del nervio óptico, la vitrectomía o alguna combinación de las anteriores. La actual revisión bibliográfica se propone profundizar en el tema, sobre la base de pacientes en consulta con dicha afección retiniana(AU)

Papillary pit is a rare congenital anomaly that is part of the congenital optic disc anomaly spectrum. It deals with intrapapillary invaginations that may be located at the border of the optic disc. Most of them is located at temporal level, around 20 percent are located centrally followed by upper, lower and nasal pits. Bilateral pits are estimated to be 10-15 percent and their incidence has been set at 0.19 percent. They are asymptomatic although 50 percent of cases suffer macular damage due to the passing of fluid from the papillary pit to the different retinal layers, which affecgs in a secondary way the visual acuity and thus it is the reason to go to the ophthalmologist. Multiple therapeutic alternatives for the treatment of papillary pit-associated serous retinal detachments have been described but none of them has predominated over the others. The treatment of this disease consists of closing the communication between the pit and the subretinal space with several therapeutic options such as laser photocoagulation, pneumoretinopexia, posterior scleral indentation, optic nerve fenestration, vitrectomy or any combination of the above-mentioned methods(AU)

Optic disc coloboma in two nigerian siblings: Case report and review of literature.

We report two cases of bilateral asymmetric optic disc coloboma (ODC) in siblings. The index patient is a 9-year-old Nigerian girl with severe cognitive deficit who presented with a poor vision of 3 years' duration. She had a history of childhood febrile convulsions and delayed developmental milestones. Her visual acuity could not be assessed because she had a cognitive deficit and expressive aphasia. Ocular examination revealed a very large excavated right optic disc with only a strip of remnant neuro-retinal rim superiorly, and a smaller left optic disc with inferior disc excavation, superior wedge of the pink neuro-retinal rim as well as a temporal optic disc pit. No systemic features of syndromes associated with ODCs and intellectual disability were present in both patients. The younger sibling an 8-year-old girl later presented to the eye clinic with a 5-month history of poor vision in the left eye. Ocular examination revealed visual acuity of 6/6 in the right eye and counting fingers in the left eye. Dilated binocular indirect ophthalmoscopy revealed a right large excavated colobomatous disc and a left small disc with infero-temporal disc coloboma.