The OPA1 gene and optic neuropathy
- Department of Ophthalmology, The University of Iowa College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA; wallace-alward@uiowa.edu
Each genetic discovery will help to solve a small piece of the puzzle of optic nerve death
The optic nerve head findings in autosomal dominant optic neuropathy (ADOA) are well described in the literature.1 These patients demonstrate optic nerve head pallor, cupping, peripapillary atrophy, and unusual grey crescents on the temporal portion of their optic nerve heads. The report by Votruba and colleagues in this issue of the BJO (p 48) improves upon previous descriptions of the optic nerve in ADOA because it includes only patients with genetic confirmation of the diagnosis. All patients had either a mutation in the OPA1 gene or demonstrated linkage in their family to chromosome 3q28-qter. Previous reports used only clinical features to diagnose ADOA and may have included patients with optic atrophy due to other disorders.
Votruba and associates evaluated the optic nerves of 29 patients from 12 pedigrees. Pallor, either temporal or diffuse, was present in all eyes. An enlarged cup to disc ratio (>0.5) was found in 48% of eyes and deep excavation was found in 21% of eyes. Peripapillary atrophy was seen in 69% of eyes and a temporal grey crescent in 31%. …
