Tyrosinase-negative oculocutaneous albinism
Your Results
Sign InDescription
Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
82