Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1.

ABSTRACT:

Purpose

To describe in detail the clinical phenotype and electrophysiological features of three patients with Leber congenital amaurosis caused by mutations of AIPL1.

Methods

Ophthalmologic examination, color fundus photography, detailed electrophysiological assessment, and screening of AIPL1 were undertaken in three subjects. One patient also underwent visual field testing and spectral domain-optical coherence tomography.

Results

All three patients, two of whom were siblings, had histories consistent with Leber congenital amaurosis (severely reduced vision, poorly responsive pupils, and nystagmus presenting within the first year of life). However, each patient had recordable and similar electroretinograms (ERGs), which demonstrated absent cone-driven responses and sl

SUBMITTER: Pennesi ME 

PROVIDER: S-EPMC3208025 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature