Stargardt disease phenotype‐genotype correlation – first results of a Lithuanian cohort study

Abstract

PurposeTo describe the first phenotype‐genotype correlation results of the patients with Stargardt disease in Lithuanian population.MethodsFrom 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.ResultsThe 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 μm and 110.9245 ± 54.84872 of the left eye. The mean subfoveal choroidal thickness, the endothelial cell count and corneal thickness were also evaluated.ConclusionsThese 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.