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Abstract
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for choroideremia (CHM). CHM is an inherited X-linked recessive disorder associated with variations in the CHM gene. The overall prevalence of CHM varies from 1 in 50 000 to 1 in 100 000. Clinical diagnosis is based on clinical findings, ophthalmological examination, visual field, fundus autofluorescence, optical coherence tomography and electroretinography. 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 Department of Clinical Sciences and Community Health, University of Milan, Ophthalmological Unit, IRCCS-Cà Granda Foundation-Ospedale Maggiore Policlinico, Milan, Italy
6 Department of Ophthalmology, ASST Santi Paolo e Carlo, University of Milan, Milan, Italy
7 MAGI’S Lab, Rovereto, Italy; MAGI Euregio, Bolzano, Italy