Logo image
Back
Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1
Journal article   Open access   Peer reviewed

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

Mark E Pennesi, Niamh B Stover, Edwin M Stone, Pei-Wen Chiang and Richard G Weleber
Investigative ophthalmology & visual science, Vol.52(11), pp.8166-8173
10/17/2011
DOI: 10.1167/iovs.11-8298
PMCID: PMC3208025
PMID: 21900377
url
https://doi.org/10.1167/iovs.11-8298View
Published (Version of record) Open Access

Abstract

To describe in detail the clinical phenotype and electrophysiological features of three patients with Leber congenital amaurosis caused by mutations of AIPL1. 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. 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 slow insensitive scotopic responses. The first patient was found to have a homozygous Trp278 stop mutation in AIPL1, whereas the siblings were each found to have novel heterozygous mutations in AIPL1 (Leu17Pro and Lys214Asn). Patients with mutations in AIPL1 may present with Leber congenital amaurosis and residual ERGs characterized by slow insensitive scotopic responses. Such responses are likely seen only in very young patients and may not be seen with the typical filter settings recommended by the ISCEV standards because of low-pass filtering. Progressive loss of residual ERG activity in young LCA patients with AIPL1 mutations suggests that gene replacement therapy will likely have to be performed early.
 Phenotype Polymerase Chain Reaction Electroretinography Leber Congenital Amaurosis - physiopathology Tomography, Optical Coherence Humans Retina - physiopathology Child, Preschool Male Leber Congenital Amaurosis - genetics Mutation - genetics Sequence Analysis, DNA Carrier Proteins - genetics DNA Mutational Analysis Visual Fields Color Vision - physiology Adolescent Female Night Vision - physiology Eye Proteins - genetics Siblings

Details

Metrics

20 Record Views
29 Times Cited - Web of Science
Logo image