has material basis in germline mutation in TYR oculocutaneous albinism type 1A https://www.malacards.org/card/albinism_oculocutaneous_type_ia oculocutaneous albinism, tyrosinase-negative tyrosinase-negative oculocutaneous albinism Orphanet:79431 MEDGEN:1643910 OMIM:203100 TYR oculocutaneous albinism MONDO:0008745 UMLS:C4551504 oculocutaneous albinism caused by mutation in TYR oculocutaneous albinism caused by mutation in Tyr DOID:0070094 ICD9:270.2 SCTID:6483008 Tyr oculocutaneous albinism albinism, oculocutaneous, type IA OCA1A NCIT:C168731 icd11.foundation:1168847652 GARD:0016721 Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves. oculocutaneous albinism type 1 oculocutaneous albinism autosomal recessive ocular albinism