Leber's congenital amaurosis
Leber's Congenital Amaurosis (pronunciation: LAY-burs kuhn-JEN-i-tl am-uh-ROH-sis) is a rare genetic eye disease that appears at birth or in the first few months of life. It affects around 1 in 80,000 of the population. The term originates from the German ophthalmologist, Theodor Leber who first described the condition.
Definition
Leber's Congenital Amaurosis (LCA) is a severe retinal dystrophy causing blindness or severe visual impairment at birth or within the first few months of life. It is characterized by a severe reduction in vision, nystagmus (involuntary eye movement), and deep-set eyes.
Causes
LCA is caused by mutations in at least 14 different genes, all of which are necessary for normal function of the retina. The most common genes involved are GUCY2D, CRB1, RPE65, and RPGRIP1. The disease is typically inherited in an autosomal recessive manner, meaning both parents must carry a mutation in the same LCA gene for the child to be affected.
Symptoms
Symptoms of LCA include severe loss of vision, involuntary movements of the eyes (Nystagmus), sensitivity to light (Photophobia), and deep-set eyes. Some individuals may also have cataracts, keratoconus (cone-shaped cornea), or retinal detachment.
Treatment
There is currently no cure for LCA. However, treatments are being developed to slow the progression of the disease. These include gene therapy, stem cell therapy, and retinal implants.
See also
External links
- Medical encyclopedia article on Leber's congenital amaurosis
- Wikipedia's article - Leber's congenital amaurosis
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski