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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.
The irises of human eyes exhibit a wide spectrum of colours. Eye color is a polygenic phenotypic trait determined by two factors: the pigmentation of the eye's iris [1] [2] and the frequency-dependence of the scattering of light by the turbid medium in the stroma of the iris. [3]: 9
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 ...
While the spectrum of eye colors is as vast as the human experience itself, one of them is the rarest eye color in the world that only a small percentage of the population possess.
Eye color is primarily determined by the amount and distribution of melanin within the front part of the iris—the colored part of the eye. This pigment's concentration and arrangement is what ...
The affected eye may be hyperpigmented (hyperchromic) or hypopigmented (hypochromic). [3] In humans, an increase of melanin production in the eyes indicates hyperplasia of the iris tissues, whereas a lack of melanin indicates hypoplasia. The term is derived from Ancient Greek: ἕτερος, héteros "different" and χρῶμα, chrôma "color ...
Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and reddish pink or blue eyes. [1] [2] Individuals with the condition are referred to as albinos. Varied use and interpretation of the terms mean that written reports of albinistic animals can be difficult to verify.
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]