Leber congenital amaurosis

Le·ber con·gen·i·tal am·au·ro·sis

(lā'bĕr kŏn-jen'i-tăl am'awr-ō'sis)
Retinitis pigmentosa characterized by severe visual impairment, nystagmus, and a 'flat' electroretinogram.
References in periodicals archive ?
It has also restored some vision in people with a rare type of inherited blindness called Leber congenital amaurosis (SN: 5/24/08, p.
Washington, July 15 ( ANI ): Scientists have revealed that a new oral medication is showing significant progress in restoring vision to patients with Leber congenital amaurosis (LCA).
This progress builds on a breakthrough gene therapy human study for a rare retinal disease called Leber congenital amaurosis (LCA), which restored significant vision to children and young adults including a boy who was able to put away his white cane and play baseball.
Also reported was the identification of a target for the rare group of severe inherited disorders classed as Leber congenital amaurosis (LCA), associated with nystagmus and considerable loss of vision.
11-cis-retinal is a key biochemical component of the visual retinoid cycle, the deficiency of which is associated with certain inherited or age-related retinal diseases, including Leber Congenital Amaurosis (LCA) and Retinitis Pigmentosa (RP).
Scientists successfully implanted cells from healthy mice into animals with the hereditary disease, Leber Congenital Amaurosis (LCA).
116,117) Additionally, mutations in NPHP6 cause most cases of Leber congenital amaurosis.
The gene therapy helped improve worsening eyesight caused by a rare inherited disease called Leber congenital amaurosis, or LCA, which makes most patients blind by age 40.
Kirby Center for Molecular Ophthalmology at Penn's Scheie Eye Institute, have been researching inherited retinal degenerations such as Leber congenital amaurosis (LCA), for 18 years.
Diseases covered include age-related macular degeneration, Leber congenital amaurosis, Stargardt disease, X-linked juvenile retinoschisis, retinal degeneration related to Usher syndrome and retinitis pigmentosa.
The human condition, called Leber congenital amaurosis (LCA), results in degeneration of the retina and near total blindness in infancy.
The AAV delivery system is successfully being used in clinical trials of Leber congenital amaurosis gene therapy that have restored vision in more than 50 adults and children who were virtually blind.