Congenital optic nerve anomalies represent a group of structural malformations that impair vision, increase the risk of ophthalmic complications, and are frequently associated with systemic conditions. We provide a review of major congenital optic disc anomalies, including optic nerve hypoplasia, morning glory disc anomaly, optic disc coloboma, peripapillary staphyloma, persistent fetal vasculature, myelinated nerve fibers, tilted disc syndrome, optic disc pit, papillorenal syndrome, optic disc drusen, and congenital optic disc pigmentation. We will review the definition, epidemiology, pathophysiology, clinical presentation, diagnostic workup, and associated systemic findings. An emphasis is placed on screening and multidisciplinary management aimed at correcting and preserving vision and preventing complications, such as retinal detachment, maculopathy, strabismus, amblyopia, and endocrine disorders. Diagnosis tools, including optical coherence tomography (OCT), B-scan ultrasonography, magnetic resonance imaging (MRI), and computed tomography (CT), are highlighted for their role in screening for these conditions. Many congenital optic nerve anomalies lack a definitive cure, and some conditions are extremely rare and do not have well-defined treatment protocols. However, routine ophthalmic examination, correction of refractive errors, visual surveillance for systemic conditions, and surgical intervention can optimize patient outcomes. Furthermore, multidisciplinary collaboration between ophthalmologists and other physicians, including pediatricians, endocrinologists, neurologists, and geneticists is often needed to facilitate care.

Children with congenital anomalies of the posterior segment of the eye are in the process of visual development, and thus, their refractive errors should be detected by cycloplegic refraction testing to prescribe full-correction glasses, if required, and to help their visual acuity develop with growth. This study aimed to review refractive correction in children with congenital ocular fundus anomalies. A retrospective review was conducted on 18 consecutive children (11 female and seven male children) who were diagnosed with ocular fundus anomalies and followed for 10 years or more by a single ophthalmologist at a referral-based hospital. The age at the initial visit ranged from 10 days after birth to 11 years, with a median of one year and four months, and the age at the last visit ranged from 10 to 32 years, with a median of 15 years. The follow-up periods ranged from 10 to 21 years at a median of 15 years. The diagnoses were familial exudative vitreoretinopathy (FEVR) in eight children, persistent fetal vasculature (PFV) in five, morning glory disc anomaly in two, optic nerve and choroidal coloboma (CHARGE syndrome) in two, and Coats disease in one. Full-correction glasses were prescribed in eight children, while the remaining 10 children did not wear glasses. Among nine children with the uncorrected visual acuity of 1.0 or better in one eye and the visual acuity in the other eye ranging from light perception to 0.01, eight children did not wear glasses, and one child wore glasses with hyperopic correction. The diagnoses in these nine children were PFV in five children, morning glory disc anomaly in two, FEVR in one, and Coats disease in one. In seven children who wore full-correction glasses, the best corrected visual acuity in the better eye ranged from 0.2 to 0.9 at a median of 0.5. In contrast, the visual acuity in the other eye ranged from light perception to 0.1 at a median of 0.03. The diagnoses of these seven children were FEVR in five children and CHARGE syndrome in two. The five children with FEVR showed myopic astigmatism in both eyes, while the two children with CHARGE syndrome showed hyperopic astigmatism in both eyes. Children with unilateral eye anomalies such as PFV and morning glory disc anomaly did not wear glasses since their healthy eyes had good uncorrected visual acuity. In contrast, children with involvement of both eyes in FEVR and CHARGE syndrome wore full-correction glasses. Rough information regarding full-correction glasses in each category would help clinicians cope with rare congenital eye diseases. However, this conclusion is generally applicable to the standard practice of pediatric ophthalmology.

Morning glory disc anomaly (MGDA) is a rare developmental malformation of the optic nerve that can complicate the diagnosis and treatment of children. We describe a case of a three-year-old girl who presented with a reduction of vision and an exotropia of the right eye. Fundoscopic observation revealed evidence of MGDA, which was confirmed through magnetic resonance imaging (MRI). MRI showed the characteristic triad of orbital appearances: a funnel-shaped morphologic structure of the posterior optic disc and elevation of the adjacent retinal surface, abnormal tissue surrounding the ipsilateral optic nerve distal part with obliteration of the surrounding subarachnoid spaces, and discontinuity of the uveoscleral coat. Post-contrast imaging revealed enhancement in the distal retrobulbar optic nerve area, likely representing displaced choroidal tissue accompanied by glial and fibrous proliferation. Notably, MR angiography showed narrowing of the right internal carotid artery segments (petrous, cavernous, and supraclinoid) with a hypoplastic right A1 segment. This represents an intermediate vascular phenotype--significant vasculopathy without the collateral vessels that define Moyamoya disease. This case highlights the importance of comprehensive neuroimaging in MGDA patients, as early identification of associated vascular anomalies is crucial for appropriate surveillance and management. The consistent MRI findings described can aid in differentiating MGDA from other ocular anomalies, particularly optic nerve coloboma, which has different genetic and prognostic implications.

Cavitary disc anomalies, including optic disc pit (ODP), optic nerve coloboma (ODC), and morning glory disc anomaly (MGDA), are congenital conditions with distinct embryological origins and systemic associations. Hybrid features combining these anomalies are rare, complicating diagnosis and management. To describe the clinical spectrum, multimodal imaging characteristics, and management strategies of hybrid cavitary disc anomalies, and to propose a novel classification system based on anatomical and physiological overlap. This retrospective case series included 22 eyes from 17 patients seen at a tertiary care center over 19 months (June 2023-December 2024). All underwent best-corrected visual acuity (BCVA) and fundus examination, multimodal imaging (color fundus photography and [optical coherence tomography] OCT), and neuroimaging when indicated. Findings were confirmed by a senior consultant with over 20 years of experience. Management tailored to visual prognosis and macular status. The median BCVA was Log MAR 0.30 ± 1.13. Various anomalies include ODP with ODC and retinal choroidal coloboma in 10 eyes (45.5%), ODP with MGDA in 3 eyes (13.6%), ODC with RCC and bridging, coloboma in 3 eyes (13.6%), and ODC with MGDA in 2 eyes (9.1%). ODP with ODC, dual ODP with ODC and RCC, and dual ODP with ODC or RCC in 1 eye were each present in 1 eye (4.5). One patient had bilateral hybrid anomalies with maculopathy. Surgical intervention was required in 4 eyes (18.2%). Hybrid cavitary disc anomalies, including MGDA and ODP, present unique diagnostic and management challenges. This study provides insights into these rare conditions, emphasizing the need for further monitoring and research.

Congenital optic disc dysplasia with coexistent macular abnormalities is seen in Morning-glory disc anomaly, optic disc pit, PAX6-related disc coloboma, and in the PAX2-related Papillo-renal syndrome. We report novel compound heterozygous variants in SIX6 causing optic disc dysplasia and macular abnormality without coexisting cataract or microphthalmia for the first time in Chinese ethnicity and also describe the macular OCT findings. A 4 year-8 months-old female child presented with poor vision, photophobia, and nystagmus noticed 4 months after her birth was diagnosed elsewhere to have isolated cone dystrophy. She was evaluated subsequently by an ocular geneticist. She underwent a complete ophthalmic evaluation including orthoptic evaluation, cycloplegic refraction, and a dilated fundus evaluation. She had fundus photography, macular OCT, and ERG. She had systemic evaluations, relevant systemic investigations, and molecular genetic testing. Whole Exome Sequencing (WES) revealed compound heterozygous variants both in the SIX6 and in the TULP1 gene. No pathogenic variants were identified in the PAX2, PAX6 or in any of the other developmental genes or in the genes currently known to cause cone dystrophy or cone-rod dystrophy. Parents were heterozygous for variants in both SIX6 and TULP1. Homozygous or compound heterozygous pathogenic variants in SIX6 can cause a dysplastic optic disc and coexistent macular abnormalities. This dysplastic disc may be clinically indistinguishable from that seen in the PAX2 related Papillo-renal syndrome. Careful optic disc evaluation of subtle disc dysplasia is critical in differentiating this extremely rare entity from other relatively common causes of isolated cone dystrophies or cone-rod dystrophies.