Results 121 to 130 of about 19,769 (229)

Redefining the role of the transfusion medicine physician in the era of advanced cellular therapies

Transfusion, EarlyView.
Eric A. Gehrie, Kevin J. Land
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Characterising PRPF31‐associated retinal dystrophy: Clinical insights from baseline data in a natural history study

Acta Ophthalmologica, Volume 104, Issue 3, Page e317-e328, May 2026.
Abstract Purpose To characterise the baseline clinical features and genotypes of adults with pre‐mRNA processing factor 31 (PRPF31)‐associated retinal dystrophy (RD) enrolled in a prospective, multicentre 4‐year natural history study, and to explore correlations between selected baseline parameters.
Kathrine Olaussen Eriksen, Jon Roger Eidet, Ulrika Kjellström, Jacopo Baldesi, Ragnheidur Bragadóttir, Leonardo Colombo, Josephine Prener Holtan   +6 more
wiley   +1 more source

Interim safety and efficacy of gene therapy for RLBP1-associated retinal dystrophy: a phase 1/2 trial

Nature Communications
Gene therapy holds promise for treatment of inherited retinal dystrophies, a group of rare genetic disorders characterized by severe loss of vision. Here, we report up to 3-year pre-specified interim safety and efficacy results of an open-label first-in ...
Anders Kvanta, Nalini Rangaswamy, Karen Holopigian, Christine Watters, Nicki Jennings, Melissa S. H. Liew, Chad Bigelow, Cynthia Grosskreutz, Marie Burstedt, Abinaya Venkataraman, Sofie Westman, Asbjörg Geirsdottir, Kalliopi Stasi, Helder André   +13 more
doaj   +1 more source

Advances in the genetics of refractive errors: Contributions from the CREAM consortium

Acta Ophthalmologica, Volume 104, Issue 3, Page e222-e231, May 2026.
Abstract The Consortium for Refractive Error and Myopia (CREAM) was established in 2011, bringing together an international team of researchers studying more than 30 cohorts. Since its establishment, CREAM has played a pivotal role in research investigating the genetics of myopia and other refractive errors, serving as a key driver of progress in the ...
Sze Wai Rosa Li, Xi He, Louise Terry, Virginie J. M. Verhoeven, Samantha Sze‐Yee Lee, Gareth Lingham, Jeremy A. Guggenheim, David A. Mackey, Seang‐Mei Saw, Caroline C. W. Klaver, Chi Pui Pang, CREAM Consortium   +11 more
wiley   +1 more source

Generation of three human induced pluripotent stem cell lines from retinitis pigmentosa 25 patient and two carriers but asymptomatic daughters

Stem Cell Research
Retinitis Pigmentosa type 25 (RP25) is a form of inherited retinal dystrophy characterized by a progressive loss of rod photoreceptors, subsequent degeneration of cone photoreceptors, and eventually, the retinal pigment epithelium. Caused by mutations in
Helena Isla-Magrané, Maddalen Zufiaurre-Seijo, Miguel Ángel Zapata, Josep García-Arumí, Anna Duarri   +4 more
doaj   +1 more source

[Gene therapy for inherited retinal dystrophies].

Arquivos brasileiros de oftalmologia, 2010
The inherited retinal dystrophies comprise a large number of disorders characterized by a slow and progressive retinal degeneration. They are the result of mutations in genes that express in either the photoreceptor cells or the retinal pigment epithelium.
Monique, Côco, Sang Won, Han, Juliana Maria Ferraz, Sallum   +2 more
openaire   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 ‐Related Phenotype

Clinical Genetics, Volume 109, Issue 5, Page 972-977, May 2026.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Molecular confirmation of the causes of inherited visual impairment in Northern Pakistan [PDF]

, 2009
Families with inherited visual impairment were identified and examined from January 2000 to December 2005 and given a clinical diagnosis. Known genes and loci were screened for mutations or linkage at Institute of Ophthalmology and Neurosciences ...
Adhi, Mehreen, Inglehearn, Chris F, Jafri, Syed Hussain, McKibbin, Martin, Rashid, Yasmin   +4 more
core   +2 more sources

Management and treatment of inherited retinal dystrophies

Taiwan Journal of Ophthalmology, 2021
Sarah R Levi, Laura A Jenny, Stephen H Tsang   +2 more
openaire   +3 more sources