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British Journal of Ophthalmology
Article . 2003 . Peer-reviewed
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The OPA1 gene and optic neuropathy

Authors: W L M Alward;

The OPA1 gene and optic neuropathy

Abstract

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%. …

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
9
Average
Average
Average
bronze