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Updated: Oct 4, 2026

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
Published on: September 22, 2017
Two cases of hereditary optic atrophy associated with an enzymatic defect of the respiratory chain
M Cahill1, A Monavari, E Naughten
1Department of Paediatric Ophthalmology, The Children's Hospital, Dublin 1, Ireland.
Abstract:
Hereditary optic atrophy is a significant cause of optic atrophy in children. We report two male siblings who suffered profound irreversible loss of vision over a 2-month period. Neither patient had any prior ophthalmic problems. Both siblings had a metabolic disorder characterized by transient episodes of ataxia and paresis, whereas in one brother a slight increase of lactate in blood and cerebrospinal fluid was detected during an acute episode. Respiratory chain defect in complex I was confirmed in one patient.
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