Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes.[1] There are multiple forms of ocular albinism, which are clinically similar.[2]: 865
Both known genes are on the X chromosome. When the term "autosomal recessive ocular albinism" ("AROA") is used, it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is X-linked.[3]
^"Ocular albinism - Genetics Home Reference".
^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
^Hutton SM, Spritz RA (March 2008). "A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients". Invest. Ophthalmol. Vis. Sci. 49 (3): 868–72. doi:10.1167/iovs.07-0791. PMID 18326704.
Ocularalbinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes. There are multiple forms of ocular...
tetra. Albinism is a well-recognized phenomenon in molluscs, both in the shell and in the soft parts. It has been claimed by some, e.g. that albinism can...
Albinism is a congenital condition characterized in humans by the partial or complete absence of pigment in the skin, hair and eyes. Albinism is associated...
hypopigmentation common in human albinism. (The name of the gene is derived from the disorder it causes, oculocutaneous albinism type II.) Different SNPs within...
is a subtype of OcularAlbinism (OA) that is linked to Ocularalbinism type I (OA1). OA1 is the most common form of ocularalbinism, affecting at least...
Albinism organisations and others have expressed criticism over the portrayal of individuals with albinism in popular culture, specifically in movies and...
Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair. Overall, an estimated 1 in 20,000 people...
G-protein coupled receptor 143, also known as Ocularalbinism type 1 (OA1) in humans, is a conserved integral membrane protein with seven transmembrane...
pigmentation in infancy. Ocularalbinism affects not only eye pigmentation but visual acuity, as well. People with albinism typically test poorly, within...
caloric test, or by disease) while the head is stationary. The direction of ocular movement is related to the semicircular canal that is being stimulated....
Less common but still recognized are blepharophimosis, cataracts, ocularalbinism, optic atrophy, optic disk pallor, and optic nerve coloboma. The facial...
clinic in US. The Nettleship-Falls syndrome, the most common type of ocularalbinism, is named after him and English ophthalmologist Edward Nettleship....
dystrophy and after DSEK". Arch Ophthalmol 2011 Kruijt B et al. "Ocular straylight in albinism". Optom Vis Sc 2011;88:E585-E592 Van Bree MC et al. "Straylight...
"Mutations of the P gene in oculocutaneous albinism, ocularalbinism, and Prader-Willi syndrome plus albinism". The New England Journal of Medicine. 330...
displaying the phenotype. Examples of autosomal recessive disorders are albinism, cystic fibrosis. X-linked genes are found on the sex X chromosome. X-linked...
"Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism"...
"Mutations of the P gene in oculocutaneous albinism, ocularalbinism, and Prader-Willi syndrome plus albinism" by Lee, S.-T., Nicholls, R.D., Bundey, S...
noticed that his eyesight was deteriorating. He was diagnosed with ocularalbinism. Skelley is married to Louise Hunt. Skelley took up judo as a sport...
Luca M, Ballabio A, Marigo V (May 2006). "Aberrant splicing in the ocularalbinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense...
eye disorders. He made important contributions in the research of ocularalbinism, retinitis pigmentosa and hereditary night blindness. Prior to specializing...
important in the development of correct pigmentation; general and ocularalbinism is associated with nystagmus. Since there is no anatomical correlations...
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