Results 61 to 70 of about 10,452 (214)

Analysis of Early Cone Dysfunction in an In Vivo Model of Rod-Cone Dystrophy

, 2020
Retinitis pigmentosa (RP) is a generic term for a group of genetic diseases characterized by loss of rod and cone photoreceptor cells. Although the genetic causes of RP frequently only affect the rod photoreceptor cells, cone photoreceptors become ...
Robert Maclaren, Alun Barnard, Maria Patrício, Sher Aslam, Michelle McClements, Mark Hassall   +5 more
core   +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

Ocular evaluation and genetic test for an early Alström Syndrome diagnosis

American Journal of Ophthalmology Case Reports, 2020
Purpose: We present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease.
Tyler Etheridge, Elizabeth R. Kellom, Rachel Sullivan, James N. Ver Hoeve, Melanie A. Schmitt   +4 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

No Evidence for an Association Between DIP2B Repeat Expansion and Neurological Disease

Movement Disorders, EarlyView.
Chia‐Ying Ko, Leon Schütz, Thomas Braun, Elena Buena‐Atienza, Nicolas Casadei, Danique Beijer, Ludger Schöls, Tobias B. Haack, Stephan Ossowski, Holger Hengel   +9 more
wiley   +1 more source

Dual Knockout Models of the Spatially and Functionally Conserved rgra and rgrb Zebrafish Genes Reveal the Requirement of RGR for the Integrity of Cone‐Mediated Photopic Vision, the Photopic Visual Cycle and Bruch's Membrane Morphology

The FASEB Journal, Volume 40, Issue 10, 31 May 2026.
This study investigates the role of the vision gene RGR using novel dual knockout zebrafish models. The loss of rgra and rgrb results in zebrafish larvae having reduced visual function and altered retinoid profiles under light but not dark conditions. The OKR phenotype is enhanced under higher light intensities.
Grace Ruddin, Tess McCann, Joanna J. Kaylor, Michelle M. Fox, John D. Fehilly, Rebecca Ward, Adam Faulkner, Ailís L. Moran, Kieran Wynne, Roxana A. Radu, Michael G. Monaghan, Stephen D. Thorpe, Gabriel H. Travis, Breandán N. Kennedy   +13 more
wiley   +1 more source

The molecular genetics of cone-rod retinal dystrophy [PDF]

, 1994
Genetic eye disease is an important and common cause of blindness in the developed World. The choroidoretinal dystrophies make up a significant proportion of this group of conditions.
Evans, Kevin
core  

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha, Antonella Minelli, Cesare Danesino, Abdelrahman Swalmeh, Khalil Huraibat, Liana Al‐Labadi, Rema Obar, Khaled R. Beshtawi, Lubna Abu Samrah, Yousef Awlad Mohammad, Aya Farah, Abdulrahman Obar, Mutasem Khalaf, Orwa Nasser   +13 more
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