Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations.

ABSTRACT:

Purpose

The majority of patients with autosomal dominant optic atrophy (DOA) harbour pathogenic OPA1 mutations. Although DOA is characterised by the preferential loss of retinal ganglion cells (RGCs), about 20% of patients with OPA1 mutations will develop a more severe disease variant (DOA+), with additional neuromuscular features. In this prospective, observational case series, optical coherence tomography (OCT) was used to define the pattern of retinal nerve fibre layer (RNFL) loss in patients with both the pure and syndromal forms of DOA.

Methods

Forty patients with a molecular diagnosis of DOA due to OPA1 mutations were prospectively recruited from our neuro-ophthalmology clinic: 26 patients with isolated optic atrophy and 14 patients manifesting DOA+ features. Peripapil

SUBMITTER: Yu-Wai-Man P 

PROVIDER: S-EPMC3094220 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature