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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 cone rod dystrophies (CORDs). CORDs are caused by variations in the ABCA4, ADAM9, AIPL1, C8orf37, CACNA1F, CACNA2D4, CDHR1, CNGA3, CRX, DRAM2, GUCA1A, GUCY2D, HRG4, KCNV2, PDE6C, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RIMS1, RPGRIP1, RPGR SEMA4A, TTLL5 genes, with an overall prevalence of 1 per 40 000. Most genes have autosomal recessive inheritance; the others have autosomal dominant or X-linked recessive transmission. Clinical diagnosis is based on clinical findings, color vision testing, ophthalmological examination 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 Neurophthalmology Unit, “G.B. Bietti” Foundation IRCCS, Rome, Italy
6 MAGI’S Lab, Rovereto, Italy; MAGI Euregio, Bolzano, Italy