Oculocutaneous Albinism Type 1 Overview

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Learn 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?
  • Oculocutaneous albinism type 1
  • ATN
  • Albinism 1
  • OCA1
  • OCA1A
  • Oculocutaneous albinism type 1A
  • Oculocutaneous albinism, tyrosinase negative
Who are the top Oculocutaneous Albinism Type 1 Local Doctors?
Elite in Oculocutaneous Albinism Type 1
Dr. William A. Gahl
Medical Genetics | Pediatrics
Elite in Oculocutaneous Albinism Type 1
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 1. 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 1
Dr. Brian P. Brooks
Ophthalmology
Elite in Oculocutaneous Albinism Type 1
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 1. His top areas of expertise are Coloboma, Coloboma of Iris, Albinism, and Oculocutaneous Albinism.

 
 
 
 
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Elite in Oculocutaneous Albinism Type 1
Benoit Arveiler
Elite in Oculocutaneous Albinism Type 1
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 1. 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 1 Clinical Trials?
Role of Peripheral Serotonin in Oculocutaneous Albinism
Role of Peripheral Serotonin in Oculocutaneous Albinism
Enrollment Status: Recruiting
Publish Date: September 12, 2025
Intervention Type: Other

Summary: Serotonin (5-HT or 5-hydroxytryptamine) is a monoamine primarily known for its role as a neurotransmitter in the central nervous system (CNS). However, the functions of serotonin go beyond its role in the central nervous system: different peripheral tissues have the capacity to produce and/or use serotonin locally, forming systems called micro-serotonergic systems. Among the peripheral roles of se...

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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: September 11, 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