Stargardt Disease

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

ABCA4, ELOVL4, CNGB3, PRPH2, PROM1, ITIH2, ABCG2, PLXNA2, GNAT2, TST, RPGR, ERG, CRB1, AKR1A1, NR2E3, RPE, USP9X, PNPLA6, ZAP70, BEST1, CILK1, SULT2A1, RDH8, SENP7, NYX, AAVS1, RBP4, RHO, PRPH, AMD1

ABCA4, ELOVL4, CNGB3, PRPH2, PROM1, ITIH2, ABCG2, PLXNA2, GNAT2, TST, RPGR, ERG, CRB1, AKR1A1, NR2E3, RPE, USP9X, PNPLA6, ZAP70, BEST1, CILK1, SULT2A1, RDH8, SENP7, NYX, AAVS1, RBP4, RHO, PRPH, AMD1, AMD1P2, CFTR, CLN3, CRX, DPYD, DPYS, FANCF, GNAZ, GRM6, GUCY2D, CFH, MPO, PDE6B, PPT1, PCARE

Drugs

1-(3-{4-[3,4-difluoro-2-(trifluoromethyl)phenyl]piperidine-1-carbonyl}-1H,4H,5H,6H,7H-pyrazolo[3,4-c]pyridin-6-yl)ethan-1-one, 3-(3-(3,5-bis(trifluoromethyl)phenyl)-1h-pyrazol-1-yl)propanoic acid, Adeno-associated viral vector serotype 5 containing the human ABCA4 gene, 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, Combination of two adeno-associated viral vectors of serotype 8 containing the 5'- and the 3'- half coding sequences of human ABCA4 fused to inteins, Echothiophate iodide, Ecothiopate iodide, Emixustat hydrochloride, Human embryonic stem-cell-derived retinal pigment epithelial cells, Lentiviral vector containing the human ABCA4 gene, Ma09-Hrpe Cells, Mixture of two adeno-associated viral vectors of serotye 8 containing the 5'-half sequence of human ABCA4 gene and the 3'-half sequence of human ABCA4 gene, Ramiprilat, Soraprazan

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Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. People with Stargardt disease also have problems with night vision, and some have problems with color vision. The signs and symptoms of Stargardt disease typically appear in late childhood to early adulthood and worsen over time. It is most commonly caused by mutations in the ABCA4 gene and inherited in an autosomal recessive manner. Rarely it may be caused by mutations in other genes and inherited in an autosomal dominant manner. There is currently no treatment, but various services and devices can help affected people carry out daily activities and maintain their independence.