
Ocular albinism type 1 - Wikipedia
Ocular albinism type 1 (OA1) is the most common type of ocular albinism, with a prevalence rate of 1:50,000. [ 1 ] [ 2 ] It is an inheritable classical Mendelian type X-linked recessive disorder …
Ocular Albinism - Symptoms, Causes, Treatment | NORD
2015年8月18日 · Ocular albinism type I (OA1), or X-linked ocular albinism, is the most common form of ocular albinism. Ocular albinism is a genetic disorder characterized by vision …
Oculocutaneous Albinism and Ocular Albinism Overview
2023年4月13日 · Ocular albinism (OA) caused by pathogenic variants in GPR143 (OA1) is inherited in an X-linked manner. If an individual has a specific syndrome associated with OCA …
Albinism, Ocular Type 1 | Hereditary Ocular Diseases
Ocular albinism (OA1) is a recessive X-linked disorder, caused by mutations in the GPR143 gene, located at Xp22.3. The protein product, a G protein-coupled receptor, is localized on the …
X-linked recessive ocular albinism | About the Disease | GARD
X-linked recessive ocular albinism is a genetic eye condition that primarily affects males.
AFSOC reveals name for OA-1K: Skyraider II
2025年2月27日 · The commander of Air Force Special Operations Command, Lt. Gen. Michael Conley, today announced the name of the OA-1K, which will be known as the Skyraider II. The …
Ocular albinism - Wikipedia
Ocular albinism, type 1 (OA1) 300500: GPR143: Also known as Nettleship–Falls syndrome, [4] [5] [6] is the most common variety of ocular albinism. OA1 is usually associated with nystagmus, …
The Ocular Albinism Type 1 Gene Product, OA1, Spans Intracellular ...
OA1 (GPR143) is a pigment cell-specific intracellular glycoprotein consisting of 404 amino acid residues that is mutated in patients with Ocular Albinism Type 1, the most common form of …
Ocular albinism, type I (Concept Id: C0342684) - National Center …
Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris …
Ocular albinism, type I - NIH Genetic Testing Registry (GTR) - NCBI
Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris …