The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.

ABSTRACT:

Purpose

Autosomal dominant optic atrophy (DOA) is a major cause of visual impairment in young adults that is characterized by selective retinal ganglion cell loss. To define the prevalence and natural history of this optic nerve disorder, we performed a population-based epidemiologic and molecular study of presumed DOA cases in the north of England.

Design

Case series.

Participants

Seventy-six affected probands with a clinical diagnosis of DOA were identified from our neuro-ophthalmology and neurogenetics database.

Methods

OPA1 genetic testing was performed using a polymerase chain reaction-based sequencing strategy. OPA1-negative cases were then screened for large-scale OPA1 rearrangements and OPA3 mutations. Additional affected family members identified throu

SUBMITTER: Yu-Wai-Man P 

PROVIDER: S-EPMC4040407 | biostudies-literature | 2010 Aug

REPOSITORIES: biostudies-literature