Results 41 to 50 of about 29,682 (236)
Stem Cell Research, 2022 RDH12 mutations have been identified in patients diagnosed with severe early-onset retinal dystrophy, including Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD).
Xuan Zou +6 more
doaj +1 more source
LONG-TERM OUTCOMES OF RETINAL DEGENERATIVE DISORDER TREATMENT WITH PEPTIDE BIOREGULATORS
Oftalʹmologiâ, 2015 Aim. To analyze long-term outcomes and efficacy of retinal degeneration treatment with Retinalamin.Patients and methods. Group I included 20 patients (40 eyes) with pigmentary retinal dystrophy (15 patients, 30 eyes) and retinal abiotrophy (5 patients ...
M. I. Razumovskiy +2 more
doaj +1 more source
, 2020 PURPOSE: To describe a specific cone-rod dystrophy phenotype in a family with the homozygous c.1429G>A; p.Gly477Arg mutation in CRB1. The detailed phenotype of subjects with this specific mutation has not been described previously.
Schatz, Patrik +15 more
core +1 more source
Frontiers in Molecular Neuroscience, 2014 RNA interference (RNAi) knockdown is an efficacious therapeutic strategy for silencing genes causative for dominant retinal dystrophies. To test this, we used self-complementary (sc) AAV2/8 vector to develop an RNAi-based therapy in two dominant retinal ...
Li eJiang +2 more
doaj +1 more source
Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy
Türk Oftalmoloji Dergisi, 2022 Objectives:Hereditary retinal dystrophies are a rare group of diseases which are heterogeneous in genotype and phenotype and result in total blindness.
Neslihan Sinim Kahraman +3 more
doaj +1 more source
Late-Onset Retinal Degeneration: Clinical Perspectives
Clinical Ophthalmology, 2022 Leonardo Lando,1,2 Shyamanga Borooah1 1Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA; 2Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, CanadaCorrespondence: Shyamanga Borooah, Shiley Eye ...
Lando L, Borooah S
doaj
Multimodal imaging of Bietti's crystalline dystrophy
Indian Journal of Ophthalmology, 2018 Bietti's crystalline dystrophy (BCD) is a rare autosomal recessive retinal dystrophy characterized by deposition of crystals in the retina. The purpose of this article is to describe retinal abnormalities in BCD using multimodal imaging.
Vinod Kumar, Amit Gadkar
doaj +1 more source
Low‐contrast visual acuity versus low‐luminance visual acuity in choroideremia
Clinical and Experimental Optometry, EarlyView., 2020 Clinical relevance Choroideremia is a progressive X‐linked inherited rod‐cone dystrophy. Patients present with nyctalopia and progressive visual field loss, but visual acuity remains well preserved early on. This study showed that low‐luminance visual acuity may be a useful clinical outcome measure during earlier disease stages.
Laura J Wood +6 more
wiley +1 more source
CDHR1 mutations in retinal dystrophies [PDF]
Scientific Reports, 2017 AbstractWe report ophthalmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic variants in the CDHR1 gene. Detailed ophthalmic examination was performed in seven sporadic and six familial subjects.
Katarina Stingl +9 more
openaire +4 more sources
Gene Therapy in Retinal Dystrophies [PDF]
International Journal of Molecular Sciences, 2019 Inherited retinal dystrophies (IRDs) are a group of clinically and genetically heterogeneous degenerative disorders. To date, mutations have been associated with IRDs in over 270 disease genes, but molecular diagnosis still remains elusive in about a third of cases. The methodologic developments in genome sequencing techniques that we have witnessed in
Ziccardi L +6 more
openaire +3 more sources