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A newborn has white hair, very pale skin that doesn't tan, and pink-blue irides. Pediatric ophthalmology finds nystagmus, foveal hypoplasia, and reduced visual acuity (~20/100). Parents are unaffected; the child has no abnormal bleeding or recurrent infections.
AR; multiple genes corresponding to OCA subtypes:
| Subtype | Gene | Pigment phenotype | Notes |
|---|---|---|---|
| OCA1A | TYR (null) | No pigment ever, white hair lifelong | Most severe; tyrosinase activity absent |
| OCA1B | TYR (residual) | Some pigment by adulthood | Tyrosinase partially functional |
| OCA2 | OCA2 (P gene) | Pigment develops over time | Most common worldwide; founder variants in African populations |
| OCA3 | TYRP1 | Reddish/brown hair; "rufous albinism" | Most common in sub-Saharan Africa |
| OCA4 | SLC45A2 | Variable | Common in Asian populations |
- Skin/hair: pale white to cream; minimal-to-no tanning; lifetime sun-related skin cancer risk
- Eyes:
- Nystagmus (early infancy)
- Iris transillumination
- Foveal hypoplasia (low visual acuity, 20/60 to 20/200)
- Optic nerve mis-routing (excessive crossing at chiasm): diagnostic on VEP
- Strabismus, photophobia
- No bleeding, no immune deficiency: these distinguish OCA from syndromic forms
- Clinical (hypopigmentation + characteristic eye findings + foveal hypoplasia on OCT)
- Molecular gene panel (OCA1–4 plus syndromic forms)
- Hermansky-Pudlak syndrome (HPS): OCA + platelet storage pool defect (bleeding) + pulmonary fibrosis. Multiple subtypes; HPS-1 is severe, common in Puerto Ricans.
- Chediak-Higashi syndrome: OCA + immunodeficiency + giant cytoplasmic granules + accelerated lymphoproliferative phase.
- Griscelli syndrome: silvery hair + immunodeficiency or neurologic disease (depending on subtype).
If a patient with albinism has bleeding, immune issues, or pulmonary symptoms, the diagnosis is NOT OCA.
- Skin protection: lifelong sun protection, annual dermatology screening for skin cancer
- Vision: low-vision aids, refraction, classroom accommodations; tinted lenses for photophobia
- Surveillance: rule out HPS in any patient with bruising; order platelet electron microscopy
- Genetic counseling: AR, ~25% recurrence risk
"OCA = Only Cutaneous + Anatomical-eye": pure OCA has no platelet, immune, or pulmonary findings. Anything beyond skin and eyes points to a syndromic albinism (HPS, Chediak-Higashi, Griscelli).