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.

PTC Therapeutics Reports Second Quarter 2019 Financial Results and Provides a Corporate Update

Doctors hope to use the cutting-edge technique to cure a type of inherited form of blindness called Leber congenital amaurosis.

Health Highlights: July 26, 2019; New Warnings About Blood Clot, Death Risk in Patients Taking Tofacitinib for Ulcerative Colitis: FDA Juul Electronic Cigarettes Never Meant for Teens, Company Co-Founder Says First U.S. Trial Using CRISPR Within the Body Is Set to Begin

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.

Allergan, Editas Medicine initiate Brilliance Phase 1/2 trial of AGN-151587

Doctors hope to use the cutting-edge technique to cure the inherited form of blindness known as Leber congenital amaurosis.

First U.S. Trial Using CRISPR Within the Body Set to Begin; Researchers will attempt to give patients with Leber congenital amaurosis a healthy version of the gene they lack

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.

Iveric bio Advances LCA10 Minigene Programme and Expansion of Orphan Gene Therapy Portfolio with USH2A-Related Inherited Retinal Diseases Programme

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.

United States : PTC Therapeutics Announces Strategic Gene Therapy Licensing Agreement with Odylia Therapeutics

A new treatment for Leber congenital amaurosis (LCA) has shown promising results in a clinical trial that involved 10 patients.

Light perception to letters: gene therapy improves vision

There is a similar condition in people known as Leber congenital amaurosis (LCA).

Testing for Breed Determination: More importantly, a DNA test may give a heads up about your dog's likelihood for certain health conditions

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].

Nanophthalmos: A Review of the Clinical Spectrum and Genetics

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.

Guiding Lights in Genome Editing for Inherited Retinal Disorders: Implications for Gene and Cell Therapy

winnerRenee Dooley RENEE Dooley, from Thorntree, was diagnosed with leber congenital amaurosis - a rare condition that will eventually cause her to lose her sight.

Champion Child of Courage

Homozygosity mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in south indian families.

Retinitis pigmentosa genes implicated in South Asian populations: a systematic review