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
Stanford Health Care
Heather Moss is an Ophthalmologist and a Neurologist in Stanford, California. Dr. Moss and is rated as an Experienced provider by MediFind in the treatment of Oculocutaneous Albinism Type 1. Her top areas of expertise are Increased Intracranial Pressure, Pseudotumor Cerebri Syndrome, Papilledema, Spinal Fusion, and Stent Placement.
Bay Area Retina Associates Medical Group
Roger Goldberg is an Ophthalmologist in Walnut Creek, California. Dr. Goldberg has been practicing medicine for over 17 years and is rated as an Experienced provider by MediFind in the treatment of Oculocutaneous Albinism Type 1. His top areas of expertise are Endophthalmitis, Age-Related Macular Degeneration (ARMD), Late-Onset Retinal Degeneration, Vitrectomy, and Cataract Removal.
Regents Of The Univ Of Ca
Ala Moshiri is an Ophthalmologist in Sacramento, California. Dr. Moshiri and is rated as an Experienced provider by MediFind in the treatment of Oculocutaneous Albinism Type 1. His top areas of expertise are Late-Onset Retinal Degeneration, Age-Related Macular Degeneration (ARMD), Diabetic Retinopathy, Color Blindness, and Vitrectomy.
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