Albinism pathophysiology: Difference between revisions

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*  [[Tyrosinase]] converts [[tyrosine]] to [[DOPA]] and then [[dopaquinone]]; subsequenstly, [[dopaquionone]] converts to either [[eumelanin]] or [[pheomelanin]]
*  [[Tyrosinase]] converts [[tyrosine]] to [[DOPA]] and then [[dopaquinone]]; subsequenstly, [[dopaquionone]] converts to either [[eumelanin]] or [[pheomelanin]]
*  [[Tyrosinase]] mutation is seen in [[oculocutaneous albinism]] 1 ([[OCA1]]) and [[autosomal-recessive]] [[ocular albinism]] ([[AROA]])
*  [[Tyrosinase]] mutation is seen in [[oculocutaneous albinism]] 1 ([[OCA1]]) and [[autosomal-recessive]] [[ocular albinism]] ([[AROA]])
*  Lack of [[melanin]] increase chances of sun-damage related diseases including [[actinic keratosis]] and UV-related [[malignancies]]
* Ocular albinism pathway:
** In [[uterus]], [[melanin]] is responsible for developement of the [[fovea]], [[optic nerves]], [[optic tracts]], and [[visual cortex]]
** Decussation of some optic nerve fibers at [[optic chiasem]] are essential for binocular vision
** In people without [[albinism]], about 45% of [[optic nerve]] fibers from the [[temporal]] part of [[retina]] do not cross the [[optic chiasem]] to [[controlateral]] [[lateral geniculate nucleus]] 
** In [[albinism]], most of nerve fibers decussate at optic chiasem and cause monocluar vision
** Monocular vision is manifested as strabismus
** In albinism,  macula pigemnt is absent and fovea hypoplasia leads to decreased visual acuity
** Visual acuity ranges from 20/60 to 20/400


==References==
==References==

Revision as of 02:39, 18 August 2021

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]

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