Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene.

ABSTRACT:

Objective

To study macular structure and function in patients with Usher syndrome type III (USH3) caused by mutations in the Clarin 1 gene (CLRN1).

Methods

High-resolution macular images were obtained by adaptive optics scanning laser ophthalmoscopy and spectral domain optical coherence tomography in 3 patients with USH3 and were compared with those of age-similar control subjects. Vision function measures included best-corrected visual acuity, kinetic and static perimetry, and full-field electroretinography. Coding regions of the CLRN1 gene were sequenced.

Results

CLRN1 mutations were present in all the patients; a 20-year-old man showed compound heterozygous mutations (p.N48K and p.S188X), and 2 unrelated women aged 25 and 32 years had homozygous mutations (p.N48K).

SUBMITTER: Ratnam K 

PROVIDER: S-EPMC4482614 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature