Abstract
Stargardt Disease (STGD) is the commonest genetic form of juvenile or early adult onset macular degeneration, which is a genetically heterogeneous disease. Molecular diagnosis of STGD remains a challenge in a significant proportion of cases. To address this, seven patients from five putative STGD families were recruited. We performed capture next generation sequencing (CNGS) of the probands and searched for potentially disease-causing genetic variants in previously identified retinal or macular dystrophy genes. Seven disease-causing mutations in ABCA4 and two in PROM1 were identified by CNGS, which provides a confident genetic diagnosis in these five families. We also provided a genetic basis to explain the differences among putative STGD due to various mutations in different genes. Meanwhile, we show for the first time that compound heterozygous mutations in PROM1 gene could cause cone-rod dystrophy. Our findings support the enormous potential of CNGS in putative STGD molecular diagnosis.
Highlights
Stargardt disease (STGD) is the most frequent cause of macular degeneration in childhood, with a prevalence of approximately 1:10000 [1]
Classic STGD should be restricted to only those cases caused by ABCA4 mutations and ‘‘Stargardt-like’’ or juvenile macular dystrophy should be used for other genetic etiologies
We recruited five families and found that four of them have ABCA4 mutations, which indicates that it is very informative to screen for ABCA4 mutations in STGD families
Summary
Stargardt disease (STGD) is the most frequent cause of macular degeneration in childhood, with a prevalence of approximately 1:10000 [1]. Rare cases of STGD or ‘‘Stargardt-like’’ disease phenotypes have been reported with mutations in PROM1, PRPH2, VMD2 ( known as BEST1) and ELOVL4, which are involved in various physiological pathways that are important for macular function [3]. This complex arena of genes and clinical features complicates the nomenclature in this field [3]; it is unclear how to classify individuals with classic Stargardt phenotype. For the purposes of this study, we classify our participants with early-onset macular degeneration as ‘‘putative STGD’’ cases
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