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Editors Selection IGR 11-4

Differential Diagnosis: ADOA

Comment by Jonathan Crowston on:

19606 Reduction of inner retinal thickness in patients with autosomal dominant optic atrophy associated with OPA1 mutations, Ito Y; Nakamura M; Yamakoshi T et al., Investigative Ophthalmology and Visual Science, 2007; 48: 4079-4086

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Autosomal dominant optic atrophy (ADOA) is characterized clinically by symmetrical optic atrophy, a reduction in central visual acuity , limited colour vision and central visual field defects. The genetic mutation leading to ADOA is thought to reside in the OPA1 gene. This nuclear gene encodes a mitochondrial protein that helps maintain mitochondrial fusion and an intact mitochondrial network. The clinical phenotype of ADOA can vary in severity even within families with the same genetic mutation and diagnostic differentiation from glaucoma can be difficult.
Ito et al. (1041) performed retinal thickness measurements with stratus OCT in eight patients with ADOA and compared these to thickness measurements in ten control patients matched for age and refraction. The principal findings were that the retinas from ADOA patients had thinner retinal ganglion cell layers and thinner inner retinas throughout the macular region as well as in the superior, temporal and inferior parpapaillary NFL. Despite the relatively small numbers of individuals examined, these differences were large and reached statistical significance. There was, however, no difference in retina thickness at the fovea or in the nasal parapapillary region. In addition, there was no difference in photoreceptor layer thickness between the groups, indicating that this disease is limited to the inner retina.

Autosomal dominant optic atrophy have thinner retinal ganglion cell layers

These findings are in support of the histological evidence, which has so far been limited to two postmortem eyes. The authors also point out the potential role for OCT in assisting in the diagnosis of ADOA and other retinal diseases that affect either the outer or inner retina.

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