Results 101 to 110 of about 12,927 (274)

Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis

Cold Spring Harbor molecular case studies, 2019
The PROM1 (prominin 1) gene encodes an 865-amino acid glycoprotein that is expressed in retinoblastoma cell lines and in the adult retina. The protein is localized to photoreceptor outer segment disc membranes, where it plays a structural role, and in ...
Sara D. Ragi, J. R. Lima de Carvalho, Akemi J. Tanaka, K. S. Park, V. Mahajan, I. Maumenee, S. Tsang   +6 more
semanticscholar   +1 more source

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy [PDF]

, 2014
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
Arts, Heleen H, Coppieters, Frauke, Cremers, Frans PM, De Baere, Elfride, de Vrieze, Erik, den Hollander, Anneke I, Hetterschijt, Lisette, Hoyng, Carel B, Kremer, Hannie, Lambertus, Stanley, Lamers, Ideke JC, Letteboer, Stef JF, Peters, Theo A, POC1B Study Group, the, Roepman, Ronald, Roosing, Susanne, van den Born, L Ingeborgh, van Wijk, Erwin   +17 more
core   +2 more sources

Evaluating the outcomes of pluripotent stem‐cell‐derived photoreceptor transplantation in retinal repair

The FEBS Journal, Volume 292, Issue 21, Page 5567-5579, November 2025.
Transplantation of stem cell‐derived photoreceptors in retinal repair. We summarize methods for differentiating stem cells and describe surgical techniques for transplanting photoreceptor precursors to restore visual function (A). The effectiveness of these techniques is assessed with behavioral (B) and in vitro assays (C) using mouse models that mimic
Darin Zerti, Birthe Dorgau, Evelyne Sernagor, Lyle Armstrong, Majlinda Lako, Gerrit Hilgen   +5 more
wiley   +1 more source

Voretigene Neparvovec in Retinal Diseases: A Review of the Current Clinical Evidence

Clinical Ophthalmology, 2020
Jie Gao,1 Rehan M Hussain,2 Christina Y Weng1 1Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA; 2Retina Associates, Elmhurst, IL, USACorrespondence: Christina Y WengBaylor College of Medicine, Alkek Eye Center, 1977 Butler Blvd,
Gao J, Hussain RM, Weng CY
doaj  

Translational Retinal Research and Therapies. [PDF]

, 2018
The following review summarizes the state of the art in representative aspects of gene therapy/translational medicine and evolves from a symposium held at the School of Veterinary Medicine, University of Pennsylvania on November 16, 2017 honoring Dr ...
Aguirre, Gustavo D, Beltran, William A, Cideciyan, Artur V, Flannery, John G, Hardcastle, Alison J, Jacobson, Samuel G, Sahel, José-Alain, Sieving, Paul A   +7 more
core   +1 more source

Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis [PDF]

, 2018
Purpose: RPE65-associated Leber congenital amaurosis (RPE65-LCA) is a progressive severe retinal dystrophy with early profound dysfunction of rod photoreceptors followed by progressive cone photoreceptor degeneration.
Bainbridge, JWB, Kalitzeos, A, Kumaran, N, Michaelides, M, Ripamonti, C, Rubin, GS   +5 more
core   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies [PDF]

, 2016
The photoreceptor cells in the retina have a highly specialised sensory cilium, the outer segment (OS), which is important for detecting light. Mutations in cilia-related genes often result in retinal degeneration.
Cheetham, ME, Coffey, PJ, Hardcastle, AJ, Jovanovic, K, Lane, A, Parfitt, DA, Ramsden, C   +6 more
core   +1 more source

Cyclic nucleotide signaling as a drug target in retinitis pigmentosa

FEBS Letters, Volume 599, Issue 18, Page 2557-2570, September 2025.
Disruptions in cGMP and cAMP signaling can contribute to retinal dysfunction and photoreceptor loss in retinitis pigmentosa. This perspective examines the mechanisms and evaluates emerging evidence on targeting these pathways as a potential therapeutic strategy to slow or prevent retinal degeneration.
Katri Vainionpää, Ahmed B. Montaser, Henri Leinonen   +2 more
wiley   +1 more source

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing

Scientific Reports, 2018
Leber congenital amaurosis (LCA) is a genetically and clinically heterogeneous disease, and represents the most severe form of inherited retinal dystrophy (IRD). The present study reports the mutation spectra and frequency of known LCA and IRD-associated
Katsuhiro Hosono, S. Nishina, T. Yokoi, S. Katagiri, H. Saitsu, Kentaro Kurata, Daisuke Miyamichi, Akiko Hikoya, K. Mizobuchi, T. Nakano, S. Minoshima, M. Fukami, H. Kondo, Miho Sato, T. Hayashi, N. Azuma, Y. Hotta   +16 more
semanticscholar   +1 more source