North Carolina Macular Dystrophy

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

DHS6S1, MCDR1, PRDM13, IRX1, MCDR3, ABCA4, CCNC, DNASE1, ERG, IMPG1

Drugs

Adeno-associated virus serotype 8 containing the human RdCVF sequence and the human RdCVFL sequence, Combination of three adeno-associated viral vectors of serotype 8 containing the 5'-, the body- and the 3'- coding sequences of human CEP290 fused to inteins

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North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.