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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
Medical Genetics | Pediatrics
Elite in Oculocutaneous Albinism Type 1
Medical Genetics | Pediatrics
10 Center Drive Msc 1851, Bldg. 10, Room 10c-103, Nhgri, Nih, 
Bethesda, MD 
Languages Spoken:
English

William Gahl is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Gahl and 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, Oculocutaneous Albinism, Oculocutaneous Albinism Type 1, and Hermansky-Pudlak Syndrome.

Elite in Oculocutaneous Albinism Type 1
Ophthalmology
Elite in Oculocutaneous Albinism Type 1
Ophthalmology
111 Michigan Ave Nw, 
Washington, DC 
Languages Spoken:
English

Brian Brooks is an Ophthalmologist in Washington, Washington, D.c.. Dr. Brooks and is rated as an Elite provider by MediFind in the treatment of Oculocutaneous Albinism Type 1. His top areas of expertise are Coloboma, Albinism, Oculocutaneous Albinism, and Oculocutaneous Albinism Type 2.

 
 
 
 
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Elite in Oculocutaneous Albinism Type 1
Medical Genetics | Pediatrics
Elite in Oculocutaneous Albinism Type 1
Medical Genetics | Pediatrics
Bethesda, MD 
Languages Spoken:
English

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

What are the latest Oculocutaneous Albinism Type 1 Clinical Trials?
Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

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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Investigations Into Chediak-Higashi Syndrome and Related Disorders

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