Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation.

ABSTRACT:

Purpose

To describe the complex, overlapping phenotype expressed in a two generation family harboring pathogenic mutations in the ABCA4 and GPR143 genes.

Methods

Clinical evaluation of a two generation family included quantitative autofluorescence imaging (qAF, 488-nm excitation) using a modified confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference to account for varying laser power detector sensitivity, spectral-domain optical coherence tomography, and full-field ERG testing. Complete sequencing of the ABCA4 and GPR143 genes was carried out in each individual.

Results

Affected individuals presented with bull's eye lesions and qAF levels above the 95% confidence interval for healthy eyes; full-field ERG revealed no generalized rod dys

SUBMITTER: Lee W 

PROVIDER: S-EPMC4961055 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature