Ocular albinism
Ocular albinism 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.
Pronunciation
Ocular albinism is pronounced as /ˈɒkjʊlər ælˈbaɪnɪzəm/.
Etymology
The term "ocular albinism" is derived from the Latin word "oculus" meaning "eye", and the Latin word "albus" meaning "white". This refers to the lack of pigmentation in the eyes that is characteristic of this condition.
Symptoms
People with ocular albinism often have vision problems such as nystagmus (irregular rapid movement of the eyes), strabismus (misalignment of the eyes), photophobia (sensitivity to light), myopia (nearsightedness), and astigmatism (imperfect curvature of the front surface of the eye).
Causes
Ocular albinism is caused by mutations in specific genes, most commonly the GPR143 gene. These mutations affect the production of melanin, the pigment that gives color to the skin, hair, and eyes.
Treatment
There is currently no cure for ocular albinism. Treatment focuses on managing the symptoms and might include the use of glasses or contact lenses to correct vision problems, and measures to protect the eyes from the sun.
Related Terms
- Albinism: A group of inherited disorders characterized by little or no production of the pigment melanin.
- Melanin: The pigment that gives color to the skin, hair, and eyes.
- Genetic disorder: A disease caused by abnormalities in an individual's genetic material.
External links
- Medical encyclopedia article on Ocular albinism
- Wikipedia's article - Ocular albinism
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