Abstract

Purpose: To highlight features isolated congenital optic nerve aplasia without systemic abnormalities, and report the associated features.
Methods: Babies referred to our tertiary care centre underwent clinical examination without general anaesthesia along with B scan and MRI of brain and orbits
Results: 7 eyes of 4 babies (3 bilateral and 1 unilateral) presented between 3 months to 4 years of age with PL/ NPL vision with microcornea(4/4), sclerocornea(3/4), nystagmus(2/4) and persistent pupillary membrane(2/4). Pupillary reflex could not be elicited. Retina showed absent optic nerve head and absent retinal vessels(7). In eyes with no view (5), B-scan revealed microphthlmos, small rudimentary/absent optic nerve shadow and dysplastic detached retina. MRI brain/orbit confirmed ON hypoplasia in 7 cases. 2 out of 4 babies had chiasmal Aplasia. Systemic status was normal
Conclusion: ONA is associated with sclerocornea, microcornea, Persistent pupillary membrane, dysplastic detached retina

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