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L. El Matri, A. Merdassi, F. Mghaieth, R. Bouraoui, L. Largueche, K. Derouiche, F. Ouechtati, S. Abdelhak; Phenotypic Variation in a Family With Stargardt Like Retinal Dystrophy and ABCA4 Mutation . Invest. Ophthalmol. Vis. Sci. 2006;47(13):1697.
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© ARVO (1962-2015); The Authors (2016-present)
To describe three different phenotypic variations of autosomal recessive retinal dystrophy occurring in a consanguineous family resulting from a mutation in the ABCR gene.
The studied family includes 3 sisters, 2 brothers and 2 first degree consanguineous parents from the same generation. All members of the family underwent an extensive ophthalmic evaluation, including best corrected visual acuity measurement, fundus examination, fluorescein and ICG angiography, and electrophysiology studies. A genetic analysis was performed for all members by genotyping technique using 2 micro satellite markers linked to ABCA4 gene.
The seven affected members of this family presented retinal dystrophy with different clinical appearance on fundus examination and angiography. Loss in visual acuity was detected at an early age between 4 and 5 years. Visual acuity was low in all cases. One patient had a typical Stargardt disease phenotype with decreased visual acuity, an isolated central retinal atrophy and a typical blocking of choroids fluorescence on the angiogram. The ERG recording was subnormal. Three patients presented a Stargardt disease with fundus flavimaculatus. They had bad visual acuities, central retinal atrophy, typical blocking of choroid fluorescence and hyper fluorescent dots. ERG was normal in all cases. Three patients had low vision, diffuse macular and peripheral retinal atrophy with peripheral pigmentation. Angiography showed a blockage of background fluorescence, hyper fluorescent dots surrounding the posterior pole and extending into mid periphery and a diffuse macular and peripheral atrophy. ERG showed in these cases a severely decreased photopic and scotopic response with global loss of cone and rod function. Genetic analysis showed that ABCA4 gene is responsible for the disease in this Tunisian family.
In this family with ABCA4 gene, 3 different phenotypes of retinal dystrophies were noted. We wonder if the retinal abnormalities correspond to different stages of a Stargardt disease’s course, or to an association of Stargardt disease and cone rod dystrophy in a same family.
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