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Minimal pigment oculocutaneous albinism type 1
Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.
- MP OCA type 1
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E70.3
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Only ten cases of OCA1-MP have been reported to date.
OCA1-MP is characterized by only a minimal activity of tyrosinase, leading to blond hair and white skin and an accumulation of ocular pigment that increases with age. Affected individuals show no skin or eye pigmentation and have white hair and blue irides at birth followed by minimal amounts of pigment that develop in the iris during the first decade of life. Skin nevi may be present.
OCA1-MP is caused by a mutation in the TYR gene located on chromosome 11q14.3 encoding tyrosinase. The mutation leads to a minimally active tyrosinase enzyme polypeptide.
OCA1-MP is inherited autosomal recessively and genetic counseling is possible.
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