Leber's congenital amaurosis
| Leber's congenital amaurosis | |
|---|---|
| Classification and external resources | |
| Specialty | ophthalmology |
| ICD-10 | H35.5 |
| ICD-9-CM | 362.76 |
| OMIM | 204000 204100 604232 604393 604537 605446 602225 604210 608553 |
| DiseasesDB | 33192 |
| GeneReviews | |
Leber's congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life, and affects around 1 in 80,000 of the population. One form of LCA became well known in the scientific community following its successful treatment with gene therapy in 2008.
LCA was first described by Theodor Leber in the 19th century. It should not be confused with Leber's hereditary optic neuropathy, which is a different disease also described by Theodor Leber.
The term congenital refers to a condition present from birth (not acquired) and amaurosis refers to a loss of vision not associated with a lesion. 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 absent pupillary responses, and severe vision loss or blindness.
It is usually autosomal recessive though, importantly for family planning, it is sometimes autosomal dominant. It is a disorder thought to be caused by abnormal development of photoreceptor cells.
OMIM currently recognizes 18 types of LCA:
The gene CEP290 has been associated with Joubert syndrome, as well as type 10 LCA.
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