Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.

ABSTRACT:

Purpose

Sixteen different mutations in the guanylate cyclase activator 1A gene (GUCA1A), have been previously identified to cause autosomal dominant cone dystrophy (adCOD), cone-rod dystrophy (adCORD), macular dystrophy (adMD), and in an isolated patient, retinitis pigmentosa (RP). The purpose of this study is to report on two novel mutations and the patients' clinical features.

Methods

Clinical investigations included visual acuity and visual field testing, fundus examination, high-resolution spectral-domain optical coherence tomography (OCT), fundus autofluorescence imaging, and full-field and multifocal electroretinogram (ERG) recordings. GUCA1A was screened by Sanger sequencing in a cohort of 12 French families with adCOD, adCORD, and adMD.

Results

W

SUBMITTER: Manes G 

PROVIDER: S-EPMC5389339 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature