Leber congenital amaurosis
Leber Congenital Amaurosis (pronunciation: LAY-ber kuhn-JEN-ih-tul am-uh-ROH-sis) is a rare genetic disorder that primarily affects the retina, the specialized tissue at the back of the eye that detects light and color.
Etymology
The condition is named after Theodor Leber, a German ophthalmologist who first described the condition in the 19th century. The term "congenital" refers to a condition that is present from birth, and "amaurosis" is a term used to describe blindness.
Symptoms
People with Leber congenital amaurosis experience severe vision loss at birth or in the first few months of life. Other symptoms can include nystagmus (involuntary eye movements), photophobia (sensitivity to light), and hyperopia (farsightedness).
Causes
Leber congenital amaurosis is caused by mutations in at least 14 different genes, all of which are necessary for normal vision. These genes are involved in the development and function of the retina, and mutations in these genes lead to abnormal development of the retina, resulting in vision loss.
Diagnosis
Diagnosis of Leber congenital amaurosis is based on the presence of severe vision loss at birth or in the first few months of life, along with the findings of a specialized eye examination. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for Leber congenital amaurosis. Treatment is focused on managing symptoms and improving quality of life. This can include the use of low-vision aids, mobility training, and occupational therapy.
Related Terms
External links
- Medical encyclopedia article on Leber congenital amaurosis
- Wikipedia's article - Leber congenital amaurosis
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