Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.

ABSTRACT:

Purpose

To describe the phenotype of a novel Wolframin (WFS1) mutation in a family with autosomal dominant optic neuropathy and deafness. The study is designed as a retrospective observational case series.

Methods

Seven members of a Dutch family underwent ophthalmological, otological, and genetical examinations in one institution. Fasting serum glucose was assessed in the affected family members.

Results

All affected individuals showed loss of neuroretinal rim of the optic nerve at fundoscopy with enlarged blind spots at perimetry. They showed a red-green color vision defect at color vision tests and deviations at visually evoked response tests. The audiograms of the affected individuals showed hearing loss and were relatively flat. The unaffected individuals showed n

SUBMITTER: Hogewind BF 

PROVIDER: S-EPMC2805421 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature