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
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 30 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 2, and Oculocutaneous Albinism Type 1.
Eulalie Lasseaux practices practicing medicine in Bordeaux, France. Ms. Lasseaux is rated as an Elite expert by MediFind in the treatment of Oculocutaneous Albinism Type 1. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Albinism, Oculocutaneous Albinism Type 2, Oculocutaneous Albinism Type 1, and 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...
Summary: Oculocutaneous albinism (OCA) is the most common type of albinism. People with OCA have little or no pigment (melanin) in their eyes, skin, and hair. This often leads to symptoms such as sensitivity to light, crossed or misaligned eyes, reduced vision, and involuntary eye movements. OCA type 1 is caused by changes in the tyrosinase gene, which results in a lack or reduced function of the tyrosinas...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center