Optic disc coloboma is a rare congenital anomaly of the optic nerve. We report a case of bilateral optic disc coloboma with coexisting unilateral retino choroidal coloboma in an adolescent from Northwestern Nigeria, who presented with complaints of difficulty seeing distant objects for 3 months, associated with ocular pains, tearing, and headache while reading. She had never worn spectacles. No previous history of systemic illnesses or trauma. Developmental milestones were optimal for age. Ocular examination revealed a best corrected visual acuity of 6/5 and 6/6 in the right and left eyes respectively. Dilated fundoscopy revealed an enlarged bilateral optic disc with a white bowl-shaped excavation, absent inferior neuro retinal rim, thin superior rim, and an area of well-defined oval retino choroidal defect, located inferior and slightly temporal to the right optic disc. No syndromic features or any ocular complications associated with optic disc and retino choroidal colobomas were seen.

Morning glory syndrome (MGS) is a rare congenital optic disc malformation characterized by a distinctive funnel-shaped optic disc resembling a blooming morning glory flower, typically diagnosed in childhood or adolescence and primarily presenting unilaterally, although bilateral cases have been reported. The anomaly features an enlarged optic disc, radiating blood vessels, and surrounding excavation, leading to visual impairment that can range from mild to profound. The etiology of MGS is not fully understood but has been associated with genetic factors, particularly mutations in the PAX6 and PAX2 genes, which play critical roles in eye development. MGS is often linked with other ocular and systemic anomalies, including retinal detachment, a significant complication that may be exudative, tractional, or rhegmatogenous. Surgical interventions are generally employed to manage complications, especially retinal detachments, with procedures such as vitrectomy, paraoptic disc laser photocoagulation, and the use of silicone oil or gas tamponade, though success rates can vary widely. Long-term outcomes for patients with MGS largely depend on the severity of associated complications and the timing of interventions; while some individuals may attain reasonable visual function post-treatment, others may continue to experience challenges due to the underlying malformation and its consequences. Thus, MGS remains a complex condition requiring a multidisciplinary approach for effective management and enhanced patient outcomes, emphasizing the need for continued research into its genetic underpinnings and optimal treatment strategies to improve understanding and care for those affected.

Achondroplasia is a genetic condition resulting from specific disruptions in the formation of endochondral bone. Telecanthus, exotropia, angle anomalies and cone-rod dystrophy have been observed as associated ophthalmic features in patients with achondroplasia. Here, we present a case of achondroplasia associated with unique ocular features including telecanthus, esotropia and bilateral microphthalmos. Fundus evaluation revealed a distinctive combination of optic disc anomalies, namely, optic disc coloboma, morning glory disc and optic disc pit maculopathy, along with retroorbital cysts. This represents the first reported case of such a combination of ocular anomalies in achondroplasia.

Morning glory disc anomaly (MGDA) is a congenital malformation characterized by a funnel-shaped optic disc excavation with radiating vessels and a central glial tuft. Imaging is essential to evaluate associated cephalocele and steno-occlusive vasculopathy. The goal of this study was to assess optic nerve, chiasmatic, and sphenoid bone morphology in MGDA. This retrospective study examined all subjects with funduscopically confirmed MGDA diagnosed and imaged with brain MR imaging between 2008 and 2023. Thirty-two children met inclusion criteria. Ocular involvement was unilateral in 29 subjects and bilateral in 3. Segmental optic nerve enlargement ipsilateral to the MGDA was seen in 21 subjects, with 3 also demonstrating a segmental reduction in the size of the ipsilateral optic nerve. Segmental reduction in the size of the ipsilateral optic nerve was present in 3 additional subjects, one with bilateral MGDA. The optic chiasm appeared asymmetrically thickened in 21 subjects, often with deformity. The optic nerves appeared normal in signal intensity in all subjects, with faint peripheral chiasmatic enhancement in 4 of 20 patients who received contrast. Optic nerve findings were stable in 15 subjects with multiple examinations. A persistent craniopharyngeal canal was identified in 17 subjects with sphenoid cephalocele in 1 and mild inferior pituitary gland displacement in 4. Tubular or nodular nasopharyngeal lesions were seen in 10 subjects. One subject had an off-midline sphenoid bone cleft, midbrain deformity, and abnormal thickening of and enhancement around the left oculomotor nerve; the oculomotor nerve finding was present in 1 additional patient. MGDA often manifests with ipsilateral optic nerve thickening, leading to a potential misdiagnosis as optic glioma. MGDA is also commonly associated with a persistent craniopharyngeal canal with variable pituitary gland and infundibular deformity, cephalocele, and tubular or nodular nasopharyngeal lesions.

The morning glory (MG) disc anomaly is a congenital excavation of the posterior globe involving the optic disc, with a distinct appearance reminiscent of the MG flower. Various intracranial and ocular associations with MG have been documented. Conditions such as trans-sphenoidal encephalocele and hypoplasia of the intracranial vasculature have been observed in association with this anomaly. In this report, we present a case of MG optic disc anomaly accompanied by serous macular detachment.