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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?
Ophthalmology | Neurology
Ophthalmology | Neurology

Stanford Health Care

300 Pasteur Dr, 
Stanford, CA 
 (165.7 mi)
Languages Spoken:
English
Offers Telehealth

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.

Ophthalmology
Ophthalmology

Bay Area Retina Associates Medical Group

365 Lennon Ln, Suite 250, 
Walnut Creek, CA 
 (174.1 mi)
Experience:
17+ years
Languages Spoken:
English

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.

 
 
 
 
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Ophthalmology
Ophthalmology

Regents Of The Univ Of Ca

4860 Y St, 
Sacramento, CA 
 (178.9 mi)
Languages Spoken:
English

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.

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