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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
Albinism usually occurs with equal frequency in both sexes. [10] An exception to this is ocular albinism, which it is passed on to offspring through X-linked inheritance. Thus, ocular albinism occurs more frequently in males as they have a single X and Y chromosome, unlike females, whose genetics are characterized by two X chromosomes. [17]
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.
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).
By definition albinism is a genetic condition, however a similar coloration could be caused by diet, living conditions, age, disease, or injury. [ 5 ] Oculocutaneous albinism (OCA) is a clearly defined set of seven types of genetic mutations which reduce or completely prevent the synthesis of eumelanin or pheomelanin , resulting in reduced ...
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin.
Albinism. Albino and white squirrels; Amelanism, lack of melanism; Black squirrel; Erythrism, reddish pigmentation; Isabellinism, lowered melanism; Heterochromia iridum; Leucism, a partial loss of pigmentation that results in animals with pale or white skin, hair and/or feathers; Melanosis, hyperpigmentation via increased melanin Ocular melanosis
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]