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Stargardt disease phenotype‐genotype correlation – first results of a Lithuanian cohort study
Author(s) -
Strupaite R.,
Cimbalistienė L.,
Ambrozaitytė L.,
Utkus A.,
Asoklis R.
Publication year - 2016
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2016.0616
Subject(s) - ophthalmology , fundus (uterus) , stargardt disease , medicine , retinal pigment epithelium , posterior pole , choroid , retina , population , ophthalmoscopy , fundus photography , retinal , fluorescein angiography , pathology , biology , environmental health , neuroscience
Purpose To describe the first phenotype‐genotype correlation results of the patients with Stargardt disease in Lithuanian population. Methods From May 2015 till April 2016 a prospective study was performed, 16 patients with Stargardt disease were involved. Ophthalmological examination included best‐corrected visual acuity (BCVA), ophthalmoscopy, fundus photography, fundus autofluorescence (FAF), spectral‐domain optical coherence tomography (SD‐OCT) and specular microscopy. Different DNA variants in several genes have been identified for all patients. Results The age of patients ranged from 18 to 66 years. Initial ophthalmoscopy revealed either no abnormalities or foveal retinal pigment epithelium (RPE) changes, foveal atrophy, atrophic RPE lesions, and/or irregular yellow‐white fundus flecks. Different FAF patterns were observed: central atrophy surrounded by ring of increased AF, irregular hypo/hyper AF or spots of hypo AF in the posterior pole. SD‐OCT revealed photoreceptor damage followed by atrophy of the outer retina, RPE, and choroid. The mean central retinal thickness of the right eye was 96.5 ± 57.004 μ m and 110.9245 ± 54.84872 of the left eye. The mean subfoveal choroidal thickness, the endothelial cell count and corneal thickness were also evaluated. Conclusions These are the first results of Stargadt disease in Lithuanian population. All patients had a different phenotypic expression. Further investigations conserning individual mutations contribution to phenotype are necessary.