Abstract
Macular dystrophies are a group of individually rare but collectively common inherited retinal dystrophies characterised by central vision loss and loss of visual acuity. Single molecule Molecular Inversion Probes (smMIPs) have proved effective in identifying genetic variants causing macular dystrophy. Here, a previously established smMIPs panel tailored for genes associated with macular diseases has been used to examine 57 UK macular dystrophy cases, achieving a high solve rate of 63.2% (36/57). Among 27 bi-allelic STGD1 cases, only three novel ABCA4 variants were identified, illustrating that the majority of ABCA4 variants in Caucasian STGD1 cases are currently known. We examined cases with ABCA4-associated disease in detail, comparing our results with a previously reported variant grading system, and found this model to be accurate and clinically useful. In this study, we showed that ABCA4-associated disease could be distinguished from other forms of macular dystrophy based on clinical evaluation in the majority of cases (34/36)
Funder
Horizon 2020, Marie Sklodowska-Curie Innovative Training Network
Fighting Blindness Ireland and the HRCI HRB Joint Funding Scheme
Stichting Oogfonds Nederland
Pro Retina Deutschland, Stichting tot Verbetering van het Lot der Blinden, Stichting voor Ooglijders and the Stichting Blindenhulp
Subject
Genetics (clinical),Genetics
Cited by
1 articles.
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