Ocular albinism type 1

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Ocular Albinism Type 1 (pronunciation: ok-yuh-ler al-buh-niz-uhm type wuhn) is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.

Etymology

The term "Ocular Albinism Type 1" is derived from the Latin word "oculus" meaning "eye", and the Latin word "albus" meaning "white". The term "Type 1" is used to differentiate this condition from other types of ocular albinism.

Symptoms

People with Ocular Albinism Type 1 usually have vision problems such as Nystagmus (involuntary eye movement), Strabismus (misalignment of the eyes), Photophobia (light sensitivity), and Foveal Hypoplasia (underdevelopment of the fovea, the center of the retina).

Causes

Ocular Albinism Type 1 is caused by mutations in the GPR143 gene. This gene provides instructions for making a protein that is involved in the normal pigmentation of the eyes. Mutations in the GPR143 gene disrupt the normal pigmentation process, leading to the vision problems associated with Ocular Albinism Type 1.

Related Terms

  • Albinism: A group of inherited disorders characterized by little or no production of the pigment melanin.
  • Ophthalmology: The branch of medicine that deals with the diagnosis and treatment of eye disorders.
  • Genetics: The study of genes, genetic variation, and heredity in living organisms.

See Also

External links

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