Results 111 to 120 of about 9,124 (223)

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

Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype

Frontiers in Genetics
Introduction:TULP1 exemplifies the remarkable clinical and genetic heterogeneity observed in inherited retinal dystrophies. Our research describes the clinical and molecular characteristics of a patient manifesting an atypical retinal dystrophy pattern ...
Anna Esteve-Garcia, Estefania Cobos, Cristina Sau, Ariadna Padró-Miquel, Jaume Català-Mora, Pilar Barberán-Martínez, Pilar Barberán-Martínez, José M. Millán, José M. Millán, José M. Millán, José M. Millán, Gema García-García, Gema García-García, Gema García-García, Cinthia Aguilera   +14 more
doaj   +1 more source

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

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

Cone Spacing Correlates With Retinal Thickness and Microperimetry in Patients With Inherited Retinal Degenerations. [PDF]

, 2019
PurposeTo determine whether high-resolution retinal imaging measures of macular structure correlate with visual function over 36 months in retinal degeneration (RD) patients and normal subjects.MethodsTwenty-six eyes of 16 RD patients and 16 eyes of 8 ...
Baldwin, Angela, De la Huerta, Irina, Duncan, Jacque L, Foote, Katharina G, Gustafson, Kevin, Porco, Travis C, Rinella, Nicholas, Roorda, Austin, Zayit-Soudry, Shiri   +8 more
core   +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

Bowman's layer dystrophy with irido-fundal coloboma in the same patient: a case report [PDF]

, 2017
Introduction: The corneal dystrophies are rare corneal diseases, defined as bilateral, symmetric and inherited conditions. Ocular coloboma is a congenital defect caused by embryogenesis imperfection, during the sixth week of development.
Mota, M, Pedrosa, C, Pires, G, Prieto, I, Pêgo, P, Silva, D, Vendrell, C   +6 more
core  

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

Neural Plasticity, 2018
Inherited retinal dystrophies (IRDs) are a leading cause of visual impairment in the developing world. These conditions present an irreversible dysfunction or loss of neural retinal cells, which significantly impacts quality of life.
Carla Sanjurjo-Soriano, Vasiliki Kalatzis   +1 more
doaj   +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

[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