Oculocutaneous Albinism

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

TYR, SLC45A2, OCA2, HPS1, TYRP1, SLC24A5, MITF, AP3B1, HPS4, MC1R, HPS6, HERC2, GPR143, TFF1, FGL1, RAB38, LYST, NR2F2, POT1, AURKB, DTNBP1, AP3D1, G6PC3, SLC24A4, HT, VPS13B, GOLGA6L2, CRYBG1, PLXNA2, PMEL, RMRP, BRCA1, BRAF, BRCA2, CDK4, CDKN2A, CSF3, CTLA4, ERG, GABRA5, GABRB3, IGF1R, KIT, MGMT, NRAS, PIK3CA, ATP7B, PTEN, OCA5

Drugs

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A group of rare genetic hypopigmentation disorders characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 and OCA8.