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Leila El Matri; Phenotypic Progression of a Discordant Stargardt Disease in a Large Consanguineous Tunisian Family: Longitudinal Follow-up. Invest. Ophthalmol. Vis. Sci. 2016;57(12):6595.
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© ARVO (1962-2015); The Authors (2016-present)
To assess the clinical 9 years phenotype progression of Stargardt (STGD) disease caused by a new ABCA4 mutation in a large Tunisian family.
Seven accessible members from two related families were followed up for 9 years. A detailed clinical examination was performed for all subjects at each control.DNA from patients was analyzed for ABCA4 mutations using multiplex ligation-dependent probe amplification (MLPA).
At presentation, 4 different retinal phenotypes were observed. Phenotype 1: Bull’s eye maculopathy and slightly altered photopic responses in full field electroretinography observed in the youngest child of the family A. Phenotype 2: macular atrophy and white-yellow flecks in two brothers. Phenotype 3: diffuse macular, peripapillary and peripheral RPE atrophy and hyperfluorescent dots in 2 sisters. Phenotype 4: Two cousins in family B displayed Stargardt disease-fundus flavimaculatus phenotype.After 9 years progression, all the 7 patients displayed progression toward phenotype 3 with advanced stage of STGD and a diffuse atrophy. Genetic analysis showed ABCA4 mutation: (?-4635)_(5714+?)dup; (?-6148)_(6479-?) del
This is a report on phenotypic progression of STGD disease in a large Tunisian family. First, different phenotypes were displayed with a clinical intra and interfamilial variation. After 9 years follow-up, all patients showed the same phenotypic evolution confirming the progressive nature of the disease. The reported mutation has not been already described; phenotypic analysis and screening for causative mutations might be helpful in confirming the precise diagnosis and contributes towards a better categorization and prognosis.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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