Oculocutaneous albinism type 5
ORPHA:370091· ICD-10 E70.3
Definition
A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal