Oculocutaneous Albinism Type 1Symptoms, Doctors, Treatments, Advances & More
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
The Milton S. Hershey Medical Center
David Adams is a Dermatologist practicing medicine in Hershey, Pennsylvania. Dr. Adams is rated as an Elite provider by MediFind in the treatment of Oculocutaneous Albinism Type 1. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Hermansky-Pudlak Syndrome, Oculocutaneous Albinism Type 1, Oculocutaneous Albinism, and Oculocutaneous Albinism Type 2.
William Gahl is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Bethesda, Maryland. Dr. Gahl is rated as an Elite provider by MediFind in the treatment of Oculocutaneous Albinism Type 1. He is also highly rated in 29 other conditions, according to our data. His clinical expertise encompasses Oculocutaneous Albinism Type 2, Hermansky-Pudlak Syndrome, Oculocutaneous Albinism Type 1, Oculocutaneous Albinism, and Deep Brain Stimulation.
Brian Brooks is an Ophthalmologist practicing medicine in Washington, Washington, D.c.. Dr. Brooks is rated as an Elite provider by MediFind in the treatment of Oculocutaneous Albinism Type 1. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Coloboma, Albinism, Oculocutaneous Albinism Type 1, and Oculocutaneous Albinism.
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