Amaurosis congenita of Leber, type 1

Amaurosis congenita of Leber, also known as Leber's congenital amaurosis, is a rare genetic condition characterized by congenital blindness.

Cause

Mutations in genes essential for the normal development and function of the retina, the part of the eye responsible for detecting light and transmitting visual signals to the brain, cause the disorder.

Symptoms

• Depending on the specific gene mutation, the specific symptoms and severity of the disorder can vary.
• Symptoms include diminished or absent vision, light sensitivity, and nystagmus (involuntary eye movements).

Types

Leber congenital amaurosis (LCA) is a rare inherited eye disease that affects approximately 1 in 40,000 newborns.

Genetics

A person must inherit two copies of the affected gene, one from each parent, in order to develop Leber's congenital amaurosis. LCA is typically inherited in an autosomal recessive pattern, but can also be inherited in an autosomal dominant pattern.

Treatment

There is currently no cure for Leber's congenital amaurosis, but gene therapy can treat some forms of the disease by introducing a normal copy of the affected gene into the eye.

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