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Journal of Ophthalmology
Volume 2018, Article ID 1030184, 7 pages
https://doi.org/10.1155/2018/1030184
Research Article

Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations

1Hedi Rais Institute of Ophthalmology (Department B), Tunis, Tunisia
2Oculogenetic Laboratory LR14SP01, Tunis, Tunisia
3Institute for Research in Ophthalmology (IRO), Sion, Switzerland
4Department of Ophthalmology, University of Lausanne and Faculty of Life Sciences, Ecole Polytechnique Fédérale of Lausanne, Lausanne, Switzerland

Correspondence should be addressed to Yousra Falfoul; rf.oohay@luoflaf.arsoy

Received 9 September 2017; Revised 29 December 2017; Accepted 1 February 2018; Published 15 March 2018

Academic Editor: Robert B. Hufnagel

Copyright © 2018 Yousra Falfoul et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

To assess the progression of Stargardt (STGD) disease over nine years in two branches of a large consanguineous Tunisian family. Initially, different phenotypes were observed with clinical intra- and interfamilial variations. At presentation, four different retinal phenotypes were observed. In phenotype 1, bull’s eye maculopathy and slight alteration of photopic responses in full-field electroretinography were observed in the youngest child. In phenotype 2, macular atrophy and yellow white were observed in two brothers. In phenotype 3, diffuse macular, peripapillary, and peripheral RPE atrophy and hyperfluorescent dots were observed in two sisters. In phenotype 4, Stargardt disease-fundus flavimaculatus phenotype was observed in two cousins with later age of onset. After a progression of 9 years, all seven patients displayed the same phenotype 3 with advanced stage STGD and diffuse atrophy. WES and MLPA identified two ABCA4 mutations M1: c.[(?_4635)_(5714+?)dup; (?_6148)_(6479_+?) del] and M2: c.[2041C>T], p.[R681]. In one branch, the three affected patients had M1/M1 causal mutations and in the other branch the two affected patients had M1/M2 causal mutations. After 9-year follow-up, all patients showed the same phenotypic evolution, confirming the progressive nature of the disease. Genetic variations in the two branches made no difference to similar end-stage disease.