Oculocutaneous Albinism Type 2 Overview

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Learn About Oculocutaneous Albinism Type 2

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 genetic changes in the OCA2 gene and is inherited in an autosomal recessive fashion.
What are the alternative names for Oculocutaneous Albinism Type 2?
  • Oculocutaneous albinism type 2
  • Albinism 2
  • Albinism, oculocutaneous, type 2
  • Albinoidism
  • OCA2
  • Oculocutaneous albinism tyrosinase positive
  • Tyrosinase-positive oculocutaneous albinism
Who are the top Oculocutaneous Albinism Type 2 Local Doctors?
Elite in Oculocutaneous Albinism Type 2
Dr. William A. Gahl
Medical Genetics | Pediatrics
Elite in Oculocutaneous Albinism Type 2
Dr. William A. Gahl
Medical Genetics | Pediatrics
10 Center Drive Msc 1851, Bldg. 10, Room 10c-103, Nhgri, Nih, 
Bethesda, MD 
301-402-2739
Languages Spoken:
English

William Gahl is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Gahl is rated as an Elite provider by MediFind in the treatment of Oculocutaneous Albinism Type 2. His top areas of expertise are Oculocutaneous Albinism Type 2, Hermansky-Pudlak Syndrome, Oculocutaneous Albinism Type 1, Oculocutaneous Albinism, and Deep Brain Stimulation.

Elite in Oculocutaneous Albinism Type 2
Dr. Brian P. Brooks
Ophthalmology
Elite in Oculocutaneous Albinism Type 2
Dr. Brian P. Brooks
Ophthalmology
111 Michigan Ave Nw, 
Washington, DC 
202-884-5000
Languages Spoken:
English
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Brian Brooks is an Ophthalmologist in Washington, Washington, D.c.. Dr. Brooks is rated as an Elite provider by MediFind in the treatment of Oculocutaneous Albinism Type 2. His top areas of expertise are Coloboma, Albinism, Oculocutaneous Albinism, and Oculocutaneous Albinism Type 1.

 
 
 
 
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Elite in Oculocutaneous Albinism Type 2
Benoit Arveiler
Elite in Oculocutaneous Albinism Type 2
Benoit Arveiler
Bordeaux, FR 

Benoit Arveiler practices in Bordeaux, France. Mr. Arveiler is rated as an Elite expert by MediFind in the treatment of Oculocutaneous Albinism Type 2. His top areas of expertise are Albinism, Hermansky-Pudlak Syndrome, Oculocutaneous Albinism, and Oculocutaneous Albinism Type 1.

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What are the latest Oculocutaneous Albinism Type 2 Clinical Trials?
Investigations Into Chediak-Higashi Syndrome and Related Disorders
Investigations Into Chediak-Higashi Syndrome and Related Disorders
Enrollment Status: Recruiting
Publish Date: December 17, 2025

Summary: Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and eventual progression to a lymphohistiocytic infiltration known as the accelerated phase . Death often occurs within the first decade as a result of infection o...

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Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
Enrollment Status: Recruiting
Publish Date: November 28, 2025

Summary: Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin). The disease can cause poor functioning of the lungs, intestine, kidneys, or heart. The major complicat...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center