Amaurosis congenita of Leber

Amaurosis congenita of Leber (also known as Leber's congenital amaurosis or LCA) is a rare genetic disorder that primarily affects the retina, the specialized tissue at the back of the eye that detects light and color. This condition is characterized by severe vision loss at birth or in the first few months of life.

Symptoms

The most common symptoms of Amaurosis congenita of Leber include nystagmus (involuntary eye movements), photophobia (sensitivity to light), and hyperopia (farsightedness). Other symptoms may include keratoconus (cone-shaped cornea), cataract (clouding of the eye's lens), and retinal degeneration.

Causes

Amaurosis congenita of Leber is caused by mutations in at least 14 different genes. These genes are involved in the development and function of the retina. Mutations in these genes lead to the death of photoreceptor cells in the retina, resulting in vision loss.

Diagnosis

Diagnosis of Amaurosis congenita of Leber is based on the clinical examination, family history, and genetic testing. Electroretinography (ERG) is a key diagnostic test that measures the electrical responses of various cell types in the retina.

Treatment

There is currently no cure for Amaurosis congenita of Leber. Treatment is supportive and aims to help individuals with the condition to maximize their remaining vision. This may include the use of low vision aids, orientation and mobility training, and occupational therapy.

Research

Research is ongoing to find effective treatments for Amaurosis congenita of Leber. Gene therapy is one area of research that has shown promise in early clinical trials.

See also

• List of genetic disorders
• Retinal diseases
• Gene therapy

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