Bietti Crystalline Corneoretinal Dystrophy

Watchlist

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

CYP4V2, ABCA4, KLKB1, CYP2B6, TIMP3, EYS, CTNNA1, ERBB2, GCG, GOT2, FADS3, SCD

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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Bietti crystalline corneoretinal dystrophy is an inherited eye disease. Symptoms include crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive night blindness and loss of visual acuity. Bietti crystalline corneoretinal dystrophy is caused by mutations in the CYP4V2 gene and inherited in an autosomal recessive fashion.