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Oculocutaneous Albinism Type 1 Research Paper

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Oculocutaneous Albinism Type One Paradise Valley High School October 25th, 2015 Introduction Melanin, the major pigment responsible for skin, hair, and eye coloration, is synthesized in cytoplasmic organelles called melanosomes. Melanosomes are the cellular site of synthesis, storage and transport of melanin pigments, and are found in melanocyte cells. Mutations in genes responsible for the necessary melanocyte proteins to make melanin pigment result in a reduction or absence of melanin pigment, a condition known as oculocutaneous albinism. Oculocutaneous albinism type one (OCA1) is a genetic deficiency associated with 0-10% of normal melanin production in the skin, hair, and eyes. They’re two subtypes of OCA1, OCA1A and OCA1B. Individuals …show more content…

Patients OCA1A have an absence of melanin, resulting in white hair, including eyelashes and eyebrows. The skin is also white unable to tan. OCA1A Patients develop Their irises are translucent and born light pink or red, but range in color from light blue to almost pink. These symptoms do not change over time, and don’t vary upon race. They have a visual acuity of 20/200 or less (20/20 being normal vision), and have intense photophobia. Patients with OCA1B are normally born with the same symptoms as those with OCA1A, but the hair and skin often develop some pigment over time. Their irises may change from blue to green/brown later in life. They often are born with visual acuity 20/100. There is also a type of OCA1b, known as temperature sensitive albinism, where there is white hair in the warmer areas of the body (such as scalp) and progressively darker hair in the cooler areas of the

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