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Abstract
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Stargardt macular dystrophy (STGD). STGD is mostly inherited in an autosomal recessive manner and rarely in an autosomal dominant manner, with an overall prevalence of 1-5 per 10 000 live births. It is caused by variations in the ABCA4, CNGB3, ELOVL4, PRPH2 and PROM1 genes. Clinical diagnosis is based on ophthalmological examination, fluorescein angiography, electroretinography, visual field testing, optical coherence tomography and color testing. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.
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Details
1 MAGI Balkans, Tirana, Albania; MAGI’S Lab, Rovereto, Italy
2 MAGI Euregio, Bolzano, Italy
3 Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy
4 Department of Medical Genetics, Erciyes University Medical School, Kayseri, Turkey
5 Head and Neck Department, School of Medicine and Surgery, University of Naples “Federico II”, Napoli, Italy; ICORG (Imperial College Ophthalmology Research Group), Western Eye Hospital, London, UK; MAGI Euregio, Bolzano, Italy
6 MAGI’S Lab, Rovereto, Italy; MAGI Euregio, Bolzano, Italy