Morphological and functional findings in Alström syndrome: a study of two families

This study describes the retinal structure and functional aspects of four patients (8 eyes) from two different families as determined by optical coherence tomography (OCT), fu ndus autofluorescence, and full-field electroretinography. There was a correlation between morphological and functional findings, evidenced by typical funduscopic changes of retinal dystrophy in spectral domain-OCT and electrophysiological analyses. Foveal characteristics include a single layer of u ndifferentiated photoreceptors with retinal disorganization mainly from external segments, in agreement with previous reports in the literature. Fundus autofluorescence showed areas of hyperautofluorescence interspersed by hypoautofluorescence dots suggesting, respectively, involvement and atrophy o f retinal pigmented epithelial cells in the macular zone. Electroretinographic analyses showed early dysfunction of the cones followed by rapid rod deterioration.RESUMO A s índrome de Alström é uma doença rara caracterizada por mutações no gene AMLS 1 e achados clínicos de obesidade infantil, diabetes mellitus, cardiomiopatia dilatada, surdez neurossensorial e distrofia de cones e bastonetes progressiva, que podem resultar em cegueira. Manifestações oftalmoló gicas ocorrem na primeira década de vida com nistagmo, blefaroespasmo e fotofobia, levando a reduções progressivas e graves na acuidade visual. Este estudo descreve a estrutura da retina e os aspectos funcionais de quatro pacientes (oito olhos) ...
Source: Arquivos Brasileiros de Oftalmologia - Category: Opthalmology Source Type: research