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An ocular albino eye appears blueish pink in color with no pigmentation at all unlike a normal eye. Carrier women have regions of hypo- and hyper-pigmentation in the fundus due to X-inactivation, and partial iris transillumination. They do not show any other symptoms exhibited by those affected by OA1.
Name OMIM Gene Description 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, and difficult to otherwise detect in females; males show more readily observable symptoms.
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 with a number of vision defects, such as photophobia, nystagmus, and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers.
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.
[7] [11] About 1 in 40,000 people have some form of OCA1. [12] OCA2: 203200: OCA2: The most common type of albinism is caused by mutation of the P gene. People with OCA2 generally have more pigment and better vision than those with OCA1, but cannot tan like some with OCA1b. A little pigment can develop in freckles or moles. [9]
There is evidence that as many as 16 different genes could be responsible for eye color in humans; however, the main two genes associated with eye color variation are OCA2 and HERC2, and both are localized in chromosome 15. [10] The gene OCA2 (OMIM: 203200), when in a variant form, causes the pink eye color and hypopigmentation common in human ...
For example, "Absence of the pigment melanin in the eyes, skin, hair, scales, or feathers." [ 16 ] refers only to the pigment melanin. Because of the various uses of different terms applied to colouration, some authors have indicated that the colour of the eyes is the defining characteristic of albinism, e.g.
Pigment dispersion syndrome (PDS) is an eye disorder that can lead to a form of glaucoma known as pigmentary glaucoma. It takes place when pigment cells slough off from the back of the iris and float around in the aqueous humor .