Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy.

ABSTRACT:

Purpose

Autosomal dominant optic atrophy (ADOA) is the most common form of hereditary optic neuropathy caused by mutations in the optic atrophy 1 (OPA1) gene. It is characterized by insidious onset with a selective degeneration of retinal ganglion cells, variable loss of visual acuity, temporal optic nerve pallor, tritanopia, and development of central, paracentral, or cecocentral scotomas. Here we describe the clinical and molecular findings in a large Italian family with ADOA.

Methods

Routine ophthalmologic examination and direct sequencing of all coding regions of the OPA1 gene were performed. Further characterization of a new OPA1 gene insertion was performed by reverse transcription-PCR (RT-PCR) of RNA from patients and control subjects.

Results

We identified an

SUBMITTER: Gallus GN 

PROVIDER: S-EPMC2820104 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature