Congenital Stationary Night Blindness

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

RHO, GRM6, TRPM1, GNAT1, LRIT3, SLC24A1, PDE6B, GPR179, SAG, CACNA1F, NYX, CABP4, GNB3, CACNA2D4, GRK1, RDH5, RBP4, TRAPPC9, USH2A, ABCA4, RPGR, RBP3, FGFR2, ERG, GRK7, RPE65, USP11, SOCS2, BBS1, GNAZ

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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Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.