Results 61 to 70 of about 37,333 (227)

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

Acta Ophthalmologica, EarlyView.
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

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

Clinical Genetics, EarlyView.
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

Variants in CFAP410 cause a range of retinal and skeletal phenotypes

npj Genomic Medicine
Ciliopathies are associated with a range of phenotypes including retinal degeneration and skeletal abnormalities. We present a retrospective study of 49 patients with variants in Cilia and Flagella Associated Protein 410 (CFAP410) from multiple ...
Ryan E. Schmidt, Amy E. Pohodich, David Birch, Kaylie Jones, Byron L. Lam, Emily H. Jung, Nieraj Jain, Michalis Georgiou, Omar A. Mahroo, Andrew R. Webster, Michel Michaelides, Benjamin Bakall, Alessandro Iannaccone, Ajoy Vincent, Deepika C. Parameswarappa, Elise Heon, Hendrik P. N. Scholl, Lucas Janeschitz-Kriegl, Elias I. Traboulsi, Wadih Zein, Brian P. Brooks, Catherine Cukras, Robert Hufnagel, Tomas S. Aleman, Mohamed M. Sylla, Stephen H. Tsang, Michelle Alabek, Jose Sahel, Michael B. Gorin, Maria M. van Genderen, Katarina Stingl, Milda Reith, Susanne Kohl, Rebeca Azevedo Souza Amaral, Juliana Maria Ferraz Sallum, Andrea L. Vincent, Sarah Hull, Jacque L. Duncan, James V. M. Hanson, Matthias Tedeus, Jordi Maggi, Urs Graf, Samuel Koller, Wolfgang Berger, Christina Gerth-Kahlert, Molly Marra, Lesley A. Everett, Paul Yang, Mark E. Pennesi   +48 more
doaj   +1 more source

Chromosome 19q Cone-Rod Retinal Dystrophy

Archives of Ophthalmology, 1995
To describe the phenotype in a family with dominantly inherited cone-rod dystrophy with chromosome assignment to a 19q locus, and to correlate this with current classifications of this retinal dystrophy.A detailed clinical examination including Goldmann perimetry was undertaken in all family members. Six members under the age of 30 years underwent dark-
Evans, Kevin, Duvall-Young, Josephine, Fitzke, Fred W., Arden, Geoffrey B., Bhattacharya, Shom Shanker, Bird, Alan C.   +5 more
openaire   +3 more sources

Test–retest variability of the full‐field stimulus test in patients with retinitis pigmentosa: REPEAT Study Report No. 4

Acta Ophthalmologica, Volume 104, Issue 1, Page 89-97, February 2026.
Abstract Purpose To evaluate test–retest variability (TRV) of the full‐field stimulus test (FST) in patients with retinitis pigmentosa (RP) and poor best‐corrected visual acuity (BCVA; ≤20/50 Snellen; ≥0.40 logMAR), and to assess the reliability of FST as a clinical endpoint in future RP trials.
J. S. Karuntu, S. B. A. E. Tulp, C. J. F. Boon   +2 more
wiley   +1 more source

RPGRIP1 and Cone–Rod Dystrophy in Dogs [PDF]

, 2011
Cone–rod dystrophies (crd) represent a group of progressive inherited blinding diseases characterized by primary dysfunction and loss of cone photoreceptors accompanying or preceding rod death. Recessive crd type 1 was described in dogs associated with an RPGRIP1 exon 2 mutation, but with lack of complete concordance between genotype and phenotype ...
Zangerl, Barbara, Aguirre, Gustavo D, Kuznetsova, Tatyana N   +2 more
openaire   +3 more sources

Atypical Retinitis Pigmentosa With Macular Sparing in a Patient With Compound Heterozygous ABCA4 Variants: A Case Report and Diagnostic Challenge

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Inherited retinal dystrophies are a complex group of disorders causing progressive vision loss. The ABCA4 gene is associated with a wide spectrum of retinopathies, most commonly Stargardt disease, which is characterized by central macular degeneration.
Na Li, Yalong Dang
wiley   +1 more source

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

BMC Medical Genetics, 2017
Background Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic ...
Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
doaj   +1 more source

Cone dystrophy associated with autoimmune polyglandular syndrome type 1

Scientific Reports, 2023
To report the association of autoimmune polyglandular syndrome type 1 (APS1) with cone dystrophy in a large Saudi family. This is a Retrospective chart review and prospective genetic testing and ophthalmic examination of a large multiplex consanguineous ...
Abdulrahman Badawi, Moustafa Magliyah, Omar Alabbasi, Lama AlAbdi, Fowzan S. Alkuraya, Patrik Schatz, Hani Basher ALBalawi, Marco Mura   +7 more
doaj   +1 more source

Generation of induced pluripotent stem cells from a Bardet-Biedl syndrome patient carrying a homologous BBS2 c.534 + 1G > T mutation

Stem Cell Research, 2021
Bardet-Biedl syndrome is a autosomal recessive hereditary disorder characterized by polydactyly, multiple renal cysts, retinal cone-rod dystrophy, obesity, and variable neural development or cognitive impairment.
Chien-Yu Ting, Ching-Ying Huang, Hung-Chih Chen, Yi-Wen Chiu, Patrick C.H. Hsieh, Jia-Jung Lee   +5 more
doaj   +1 more source