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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.
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.
Although the deep blue eyes of some people such as Elizabeth Taylor can appear purple or violet at certain times, "true" violet-colored eyes occur only due to albinism. [73] [74] [75] Eyes that appear red or violet under certain conditions due to albinism occur in less than 1 percent of the world's population. [70]
The eyes of albino animals appear red because the colour of the red blood cells in the retina can be seen through the iris, which has no pigment to obscure this. Some albino animals may have pale-blue eyes due to other colour generating processes. Albino vertebrates exposed to intense light typically lose photoreceptors due to apoptosis. [28]
When it comes to eye color, the melanin controlled by the OCA2 gene is diluted and thus we all have blue eyes. For those with that blue-eye gene mutation they eyes stay blue.
Waardenburg syndrome has multiple different types with some variations in symptoms, and symptoms can vary among those with the same type. The two features consistent across all types of Waardenburg syndrome are some degree of congenital sensorineural hearing loss and some degree of pigmentation deficiencies, most consistently in the eyes. [11]
Oculocutaneous albinism (OCA): A group of inherited disorders that affect melanin production, causing pale skin, hair, and eyes. [11] Griscelli syndrome: A rare genetic condition characterized by pigmentary dilution and immunodeficiency. [12] Chediak-Higashi syndrome: This genetic disorder results in pigmentary abnormalities and immune system ...
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