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 ?
The lead program is for Leber Congenital Amaurosis (LCA6), a rare early onset retinal dystrophy.
AGN-151587 is an experimental medicine under development for the treatment of Leber congenital amaurosis 10, an inherited form of blindness caused by mutations in the CEP290 gene.
Doctors hope to use the cutting-edge technique to cure the inherited form of blindness known as Leber congenital amaurosis.
Hemant Khanna and Guangping Gao in the Horae Gene Therapy Center at UMMS and was described in the 2018 Human Gene Therapy journal article, "Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis" by Wei Zhang, Linjing Li, Qin Su, Guangping Gao, and Hemant Khanna, all of whom are affiliated with the University of Massachusetts Medical School.
The lead program in the collaboration will be RP-GRIP1, a ciliary protein that is defective in Leber Congenital Amaurosis 6 (LCA6), a rare early onset childhood retinal dystrophy.
A new treatment for Leber congenital amaurosis (LCA) has shown promising results in a clinical trial that involved 10 patients.
The CRB1 gene is located in chromosome 1, in the interval 1q31.2-1q32.1, and its mutations are classically associated with various heritable retinal dystrophies, including Leber Congenital Amaurosis [70, 72, 73].
When both the macula and the peripheral retina are affected and there is a rapid retinal degeneration from birth, the condition is known as Leber congenital amaurosis (LCA; prevalence of 1/50000), of which 18 types are recognized.
winnerRenee Dooley RENEE Dooley, from Thorntree, was diagnosed with leber congenital amaurosis - a rare condition that will eventually cause her to lose her sight.
Homozygosity mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in south indian families.