GPR143 Mutations and Macular OCT Findings in Patients with Ocular Albinism and their Carrier Mothers

Abstract

Purpose: : To describe the macular architecture by Optical Coherence Tomography (OCT) and frequency of G protein-coupled receptor 143 gene (GPR 143) mutation in patients with ocular albinism and carrier mothers.

Methods: : Descriptive, transversal study. Patients with clinical diagnosis of ocular albinism were included. Patient blood samples underwent an analysis of GPR 143, the coding regions of the gene were amplified by polymerase chain reaction and subsequently analyzed by direct sequencing. A spectral domain OCT (SPECTRALIS®, Heidelberg Engineering) of the macular area was performed in patients with ocular albinism and carrier mothers. The anatomical characteristics of the macula and retinal pigment epithelium (RPE), patterns of autofluorescence and infrared imaging were analyzed.

Results: : Mutation screening and sequence analysis of the GPR 143 were performed in five patients with ocular albinism. Spectral domain OCT images obtained from the patients with ocular albinism revealed the following abnormalities: inner retinal layers in the fovea (normally absent) and abnormal thickened photoreceptor nuclear layer. In carrier mothers there were no observable changes in the retina by OCT. No characteristic pattern of autofluorescence or infrared was observed.

Conclusions: : Mutation in the GPR 143 gene can be found in patients with ocular albinism. Our results suggest that the spectral domain OCT (SPECTRALIS) could be a useful tool in the retinal analysis of patients with ocular albinism. In carrier mothers no changes were observed in the OCT.

Keywords: genetics • mutations • imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound)