Variants in the ABCA4 gene in a Brazilian population with Stargardt disease.

ABSTRACT:

Purpose

The aim of this study was to analyze and report pathogenic variants in the ABCA4 gene in Brazilian patients with a clinical diagnosis of Stargardt disease.

Methods

This retrospective study evaluated variants in the ABCA4 gene in Brazilian patients with Stargardt disease. The patients' visual acuity and age of symptom onset were obtained from previous medical records. The patients were classified according to the autofluorescence patterns.

Results

Fifty patients aged between 10 and 65 years from 44 families were included in the study. Among these cases, the mean age of symptom onset was 14 years (range, 5-40 years). ABCA4 gene sequencing was conclusive in 40 patients (80%), negative in two patients (4%), and inconclusive in eight patients (

SUBMITTER: Salles MV 

PROVIDER: S-EPMC6070459 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature