Synonym(s): - OCA1A - Tyrosinase-negative 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 No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
TYR	P14679	606933

- Autosomal recessive inheritance
- Decreased hair pigmentation / hypopigmentation of hair
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Iris albinism / ocular albinism
- Macular dystrophy / absence / hypoplasia of the macula
- Nystagmus
- Photophobia
- Retinal albinism

- Abnormal VEP / Visual evoked potential
- Excessive freckling
- Mild visual loss / impaired visual acuity
- Optic nerve anomaly / optic atrophy / anomaly of the papilla

- Corpus callosum / septum pellucidum total / partial agenesis
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)