Leber's congenital amaurosis

Leber's congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life

It was first described by Theodore Leber in the 19th century. (It should not be confused with Leber's hereditary optic neuropathy, which is a different disease also described by Theodore Leber.)

Presentation
Amaurosis refers to a loss of vision not associated with a lesion, and congenital refers to a condition present from birth (not acquired). However, beyond these general descriptions, the presentation of LCA can vary, because it is associated with multiple genes.

LCA is typically characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.

Genetics
It is an autosomal recessive disorder thought to be caused by abnormal development of photoreceptors.

There is evidence tying type 1 LCA to, and type 2 to.

Other genes which have been implicated include, , and.

OMIM currently recognizes 11 types of LCA:

The gene has been associated with Joubert syndrome, as well as type 10 LCA.

Testing
Project 3000, a foundation started by Chicago Cubs first baseman Derrek Lee and Boston Celtics owner Wyc Grousbeck, works to have the approximately 3,000 people in the United States with the disease genetically tested.

Genetic tests and research are currently being performed at the University of Iowa Carver Lab by Drs. Edwin Stone and Val Sheffield.

Treatment
Researchers at Moorfields Eye Hospital in London are conducting the first gene therapy clinical trial for patients with RPE65 LCA. There has been some success in a mouse model with this approach.