Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.

ABSTRACT:

Purpose

Autosomal-dominant optic atrophy (DOA) is one of the most common inherited optic neuropathies, and it is genetically heterogeneous, with mutations in both OPA1 and OPA3 known to cause disease. Approximately 60% of cases harbor OPA1 mutations, whereas OPA3 mutations have been reported in only 2 pedigrees with DOA and premature cataracts. The aim of this study was to determine the yield of OPA1 and OPA3 screening in a cohort of presumed DOA cases referred to a tertiary diagnostic laboratory.

Design

Retrospective case series.

Participants

One hundred eighty-eight probands with bilateral optic atrophy referred for molecular genetic investigations at a tertiary diagnostic facility: 38 patients with an autosomal-dominant pattern of inheritance and 150 sporadic cases

SUBMITTER: Yu-Wai-Man P 

PROVIDER: S-EPMC3044822 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature