What is the definition of Oculocutaneous Albinism Type 2?

Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. This condition also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; nystagmus and strabismus; and increased sensitivity to light (photophobia). This condition is caused by mutations in the OCA2 gene and is inherited in an autosomal recessive fashion.

What are the alternative names for Oculocutaneous Albinism Type 2?

  • OCA2
  • Oculocutaneous albinism tyrosinase positive
  • Albinism 2
  • Albinism, oculocutaneous, type 2
  • Albinoidism
  • Tyrosinase-positive oculocutaneous albinism
  • Condition: Hermansky-Pudlak Syndrome
  • Journal: Seminars in respiratory and critical care medicine
  • Treatment Used: Pirfenidone and Lung Transplantation
  • Number of Patients: 0
  • Published —
The study researched the outcomes of Hermansky-Pudlak syndrome.
Clinical Trial
  • Status: Not yet recruiting
  • Phase: Phase 2
  • Intervention Type: Drug
  • Participants: 50
  • Start Date: December 1, 2019
Pirfenidone in the Treatment of Hermansky Pudlak Syndrome (HPS) - Related Interstitial Lung Disease (ILD)
Clinical Trial
  • Status: Recruiting
  • Phase: Phase 2
  • Intervention Type: Drug
  • Participants: 20
  • Start Date: March 2013
A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime