X-Linked Cone Dysfunction Syndrome With Myopia

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

OPN1MW, OPN1LW, CCN2, DRD2, TGFB1, FTO, ANKK1

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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X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.