Congenital optic disc coloboma

A clinical case of observation of a 3-year-old child with a newly diagnosed optic nerve coloboma and multiple malformations is considered. The clinical picture and diagnostic methods necessary for the diagnosis are reflected. On the example of this child, the differential diagnosis with Charge syndrome is considered. Key words: coloboma, optic nerve coloboma, partial optic nerve atrophy, astigmatism, Charge syndrome.

Intravitreal ranibizumab for the management of serous maculopathy secondary to optic disc coloboma-associated choroidal neovascularisation

We report the case of a 19-year-old patient with symptomatic unilateral serous maculopathy associated with an optic nerve coloboma. Fluorescein angiography detected a focal late leak at the temporal edge of the coloboma which was later found to correspond with an area of choroidal neovascularisation on optical coherence tomography angiography. A course of intravitreal ranibizumab achieved good clinical and structural response. This report contributes to the evidence that maculopathies associated with cavitary optic nerve anomalies may in some instances result from choroidal neovascularisation. It also highlights the importance of angiography to identify potential choroidal neovascular membranes, particularly in the absence of haemorrhages and neovascular membranes on fundus examination and conventional optical coherence tomography.

Optic nerve coloboma

A 20 years old female presented for a routine eye examination. Her best corrected visual acuity (BCVA) was OU - 20/20 Snellen chart. Fundoscopy of the right eye revealed a massive optic disc coloboma with no other associated abnormalities. Fundoscopy of the left eye revealed a normal eye fundus. Optic nerve coloboma is a congenital condition caused by incomplete closure of embryonic fissure. It usually occurs bilaterally, autosomal dominantly inherited, or sporadic cases. Serous macular detachment and visual field loss can be frequently observed in this condition. It can also be associated with other colobomas (lens, cilliary body and choroid), microphtalmos, retinal dysplasia, or can be part of systemic anomalies like Aicardi syndrome, Meckel syndrome and CHARGE association, with poor visiual prognosis. Subjects with isolated optic nerve coloboma, with no other associated abnormalities, like this case, can have excellent visual prognosis.