
Oculocutaneous albinism is generally the result of the biological inheritance of genetically recessive alleles ( genes) passed from both parents of an individual such as OCA1 and OCA2. The resulting sensitivity (photophobia) generally leads to discomfort in bright light, but this can be reduced by the use of sunglasses or brimmed hats. The improper development of the retinal pigment epithelium (RPE), which in normal eyes absorbs most of the reflected sunlight, further increases glare due to light scattering within the eye.

Optic nerve hypoplasia, underdevelopment of the optic nerve.Amblyopia, decrease in acuity of one or both eyes due to poor transmission to the brain, often due to other conditions such as strabismus.Nystagmus, irregular rapid movement of the eyes back and forth, or in circular motion.Įye conditions common in albinism include: Reduced visual acuity due to foveal hypoplasia and possibly light-induced retinal damage.It is painful and causes extreme sensitivity to light.
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Those with albinism are generally as healthy as the rest of the population (but see related disorders below), with growth and development occurring as normal, and albinism by itself does not cause mortality, although the lack of pigment blocking ultraviolet radiation increases the risk of melanomas (skin cancers) and other problems. Lack of pigment in the eyes also results in problems with vision, both related and unrelated to photosensitivity.

In photographs, those with albinism are more likely to demonstrate "red eye", due to the red of the retina being visible through the iris. The human eye normally produces enough pigment to color the iris blue, green or brown and lend opacity to the eye.
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However, when an optometrist or ophthalmologist examines the eye by shining a light from the side of the eye, the light shines back through the iris since very little pigment is present." īecause individuals with albinism have skin that entirely lacks the dark pigment melanin, which helps protect the skin from the sun's ultraviolet radiation, their skin can burn more easily from overexposure. Īccording 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 darkens with age. The other end of the spectrum of albinism is "a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people". There are different types of oculocutaneous albinism depending on which gene has undergone mutation. There are two principal types of albinism: oculocutaneous, affecting the eyes, skin and hair, and ocular affecting the eyes only. Signs and symptoms Girl with albinism from Papua New Guinea The term is from the Latin albus, "white". While an organism with complete absence of melanin is called an albino, an organism with only a diminished amount of melanin is described as leucistic or albinoid.

Unlike humans, other animals have multiple pigments and for these, albinism is considered to be a hereditary condition characterised by the absence of melanin in particular, in the eyes, skin, hair, scales, feathers or cuticle. It is due to absence or defect of tyrosinase, a copper-containing enzyme involved in the production of melanin. Īlbinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans. This also affects essential granules present in immune cells leading to increased susceptibility to infection. In rare cases such as Chédiak–Higashi syndrome, albinism may be associated with deficiencies in the transportation of melanin granules. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers. Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. albino ( UK: / æ l ˈ b iː n oʊ/, or US: / æ l ˈ b aɪ n oʊ/) Īlbinism is a congenital condition characterized in humans by the partial or complete absence of pigment in the skin, hair and eyes.
