Oculocutaneous Albinism Type 1 Overview
Learn About Oculocutaneous Albinism Type 1
- Oculocutaneous albinism type 1
- ATN
- Albinism 1
- OCA1
- OCA1A
- Oculocutaneous albinism type 1A
- Oculocutaneous albinism, tyrosinase negative
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.
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.
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.
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...
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...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center