Synonym(s): - OCA1B - Oculocutaneous albinism type Amish - Platinum oculocutaneous albinism - Yellow oculocutaneous albinism
Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare skin disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C537729
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
TYR	P14679	606933

- Albinism (hair)
- Anomalies of eyelids, eyelashes and lacrimal system
- Autosomal recessive inheritance
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Excessive freckling
- Iris albinism / ocular albinism
- Strabismus / squint

- Macular dystrophy / absence / hypoplasia of the macula
- Mild visual loss / impaired visual acuity
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Photophobia
- Pigmented naevi / naevus pigmentosus / lentigo

- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Thick skin / pachydermia / orange skin