Leber congenital amaurosis

Leber congenital amaurosis (LCA) is a rare genetic eye disorder that appears at birth or in the first few months of life. It affects around 1 in 80,000 of the population. The condition was first described by Theodor Leber in the 19th century.

Symptoms

The most common symptoms of LCA include severe visual impairment from birth, involuntary movements of the eyes (nystagmus), and deep-set eyes. The condition can also cause keratoconus, cataract, and a sensitivity to light (photophobia).

Causes

LCA 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 of photoreceptor cells in the retina. Mutations in these genes can affect the structure and function of these cells, leading to the symptoms of LCA.

Diagnosis

Diagnosis of LCA is based on clinical examination and genetic testing. The clinical examination may include an electroretinogram (ERG), which measures the electrical responses of various cell types in the retina. Genetic testing can confirm the diagnosis and identify the specific gene mutation causing the condition.

Treatment

There is currently no cure for LCA, but treatments are available to help manage the symptoms. These may include visual aids, mobility training, and occupational therapy. In some cases, gene therapy may be an option.

Research

Research into LCA is ongoing, with scientists exploring gene therapy, stem cell therapy, and other treatments. Clinical trials are also being conducted to evaluate potential new treatments.

See also

• List of eye diseases and disorders
• Genetic disorder
• Gene therapy

References

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