Open AccessMorphological and functional findings in Alström syndrome: a study of two families
Author(s) -
Álvaro Buno Botentuit Serra de Castro,
Bruno Nobre Lins Coronado,
Ráysa Hellen Assunção Costa,
Maria Regina Chalita,
Wener Cella,
Marcos Pereira de Ávila
Publication year - 2018
Publication title -
arquivos brasileiros de oftalmologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.603
H-Index - 29
eISSN - 1678-2925
pISSN - 0004-2749
DOI - 10.5935/0004-2749.20180102
Subject(s) - photophobia , ophthalmology , electroretinography , medicine , achromatopsia , retinal , atrophy , fundus (uterus) , retinal degeneration , visual acuity , retinal disorder , dystrophy , retinitis pigmentosa , optical coherence tomography , retina , pathology , neuroscience , biology
Alström syndrome is a rare disorder characterized by mutations to the ALMS1 gene and clinical findings of childhood obesity, diabetes mellitus, dilated cardiomyopathy, sensorineural hearing loss, and progressive cone-rod dystrophy, which may result in blindness. Ocular manifestations occur in the first decade of life with nystagmus, blepharospasm, and photophobia leading to progressive and severe reductions in visual acuity. 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), fundus 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 undifferentiated 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 of retinal pigmented epithelial cells in the macular zone. Electroretinographic analyses showed early dysfunction of the cones followed by rapid rod deterioration.