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Oculocutaneous albinism is a form of albinism involving the eyes , the skin (-cutaneous), and the hair. [1] Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. [1] OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. [2]
The other end of the spectrum of albinism is "a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people". [ 6 ] According to the National Organization for Albinism and Hypopigmentation , "With ocular albinism, the color of the iris of the eye may vary from blue to green or even brown, and sometimes ...
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.
Albinism in molluscs has been recognized to be a hereditary phenomenon at least since 1900. [71] Albinism in molluscs can exist to a variable degree. Sometimes an individual snail has a normally pigmented body, but the shell is completely without the normal pigmentation because of a defect in the cells of the mantle. Shells of certain mollusc ...
When Daniel Solomon was born with ocular albinism, his parents turned to Miami Lighthouse for the Blind and Visually Impaired for help and support. Legally blind since birth, Solomon went on to ...
Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive [1] disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).
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 wherein the retinal pigment epithelium lacks pigment while hair and skin appear normal.
Oculocutaneous albinism type I or type 1A [1] is form of the autosomal recessive condition oculocutaneous albinism that is caused by a dysfunction in the gene for tyrosinase (symbol TYR or OCA1). The location of OCA1 may be written as "11q1.4–q2.1", meaning it is on chromosome 11 , long arm, somewhere in the range of band 1, sub-band 4, and ...