Condition 101 About Oculocutaneous Albinism Type 1

What is the definition of Oculocutaneous Albinism Type 1?

Oculocutaneous albinism type 1 is a condition that affects the coloring of the skin, hair, and eyes. Signs and symptoms include very fair skin, white hair, an increased risk for skin damage with sun exposure, reduced vision (sharpness), light colored irises, nystagmus, and photophobia (eyes are sensitive to light). It is caused by changes in the TYR gene and is inherited in an autosomal recessive fashion.

What are the alternative names for Oculocutaneous Albinism Type 1?

  • OCA1
  • Oculocutaneous albinism type 1A
  • OCA1A
  • Oculocutaneous albinism, tyrosinase negative
  • ATN
  • Albinism 1

Top Global Doctors For Oculocutaneous Albinism Type 1

Latest Advances On Oculocutaneous Albinism Type 1

  • 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 Trials For Oculocutaneous Albinism Type 1

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