Results 81 to 90 of about 8,320 (263)

Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population

Human Mutation, Volume 2026, Issue 1, 2026.
Congenital stationary night blindness (CSNB) is a rare and typically nonprogressive group of genetically heterogeneous disorders resulting in impaired night vision and high myopia with varying levels of visual impairment. Despite being a rare disease with a prevalence of 1:294,000, variants in 22 genes have been associated with specific CSNB phenotypes.
Jennifer Ling, Mustansir Pindwarawala, Cheryl Y. Gregory-Evans, Mathew Kirby, Kevin Gregory-Evans, Meng-Che Tsai   +5 more
wiley   +1 more source

Genetic Association Study Between Refractive Error–Related Genes and High Myopia in the Chinese Han Population

Journal of Ophthalmology, Volume 2026, Issue 1, 2026.
Background Refractive errors are the leading cause of visual impairment and blindness globally. High myopia (HM) poses significant risks of severe ocular complications and blindness. 12 SNPs, including rs580839, have been associated with refractive errors in European and Asian populations, but their roles in Chinese cohorts remain unexplored.
Jianxin Liu, Weijiang Liao, Chunbao Xie, Xinyu Wang, Yukai Gong, Chunchun Yang, Fang Hao, Yin Yang, Liang Zou, Yi Shi, Jiayu Meng, Lingxi Jiang, Shweta Negi   +12 more
wiley   +1 more source

Stellate Nonhereditary Idiopathic Foveomacular Retinoschisis: Cataract Surgery

Case Reports in Ophthalmological Medicine, 2022
Purpose. We present the first case described in the literature of cataract surgery in a patient with stellate nonhereditary idiopathic foveomacular retinoschisis (SNIF). Methods. In this case report, we describe the extensive workup we did on our patient,
Sofie Van der Auwera, Oscar Kallay
doaj   +1 more source

Choroidal changes and association with Gaussian curvature in high myopic eyes with posterior staphyloma in ultra‐wide‐field optical coherence tomography angiography

Acta Ophthalmologica, Volume 103, Issue 8, Page 998-1009, December 2025.
Abstract Purpose To evaluate choroidal changes in high myopic (HM) patients with posterior staphyloma (PS) and explore their association with Gaussian curvature (K) using ultra‐wide‐field optical coherence tomography angiography (UWF‐OCTA). Methods HM patients with wide macular PS (Type I PS) and without any PS (control) were recruited.
Qing Zhao, Linxin Wei, Huan Chen, Yan Luo, Youxin Chen, Zhikun Yang   +5 more
wiley   +1 more source

AAV Gene Therapy Drug Development and Translation of Engineered Ocular and Neurotropic Capsids: A Systematic Review Using Natural Language Processing

Clinical and Translational Science, Volume 18, Issue 12, December 2025.
ABSTRACT Natural AAV serotypes often lack specificity and efficiency, leading to off‐target effects and a low therapeutic index. To overcome these limitations of naturally occurring serotypes, there has been a keen interest in the field to engineer novel capsids to enhance tissue and cell‐specific targeting, resulting in a high number of published ...
Chinaza Agbim, Heng‐Yi Wu, Chloe Kim, Elizabeth Mutter‐Rottmayer, Shraddha Sadekar, Milica Markovic   +5 more
wiley   +1 more source

Cellular Imaging Of The Tapetal-like Reflex In Carriers Of RPGR-associated Retinopathy [PDF]

, 2017
PURPOSE: To examine the features of the tapetal-like reflex (TLR) in female carriers of RPGR-associated retinopathy by means of adaptive optics scanning light ophthalmoscopy (AOSLO) and spectral domain optical coherence tomography.
Carroll, J, Dubra, A, Kalitzeos, A, Kasilian, M, Langlo, C, Michaelides, M, Samra, R, Strampe, M, Tee, JJL, Webster, AR   +9 more
core   +1 more source

A fast protocol for photodynamic therapy in exudative choroidal circumscribed hemangioma: Early laser irradiance after end of verteporfin infusion

Acta Ophthalmologica, Volume 103, Issue 7, Page 831-841, November 2025.
Abstract Purpose The aim of the study is to compare the risk of first‐line photodynamic therapy (PDT) failure according to the PDT protocol performed in patients with exudative choroidal circumscribed hemangioma (CCH). Methods We retrospectively included patients from 11 European centres in France, Italy and Denmark.
Paul Dubar, Thibaud Mathis, Emilie Hucteau, Juliette Thariat, Maxime Nhari, Célia Maschi, Carsten Faber, Jens Folke Kiilgaard, Carlo Mosci, Catherine Favard, Sarah Tick, Anh‐Minh Nguyen, Jean‐Pierre Caujolle, Marie‐Noëlle Delyfer, Laurence Rosier   +14 more
wiley   +1 more source

Retinal Viral Gene Therapy: Impact of Route of Administration on Serious Adverse Events—A Systematic Review

Clinical &Experimental Ophthalmology, Volume 53, Issue 8, Page 967-985, November 2025.
ABSTRACT Background To explore the prevalence of serious adverse events (SAEs) associated with retinal viral gene therapy and to examine trends influencing SAE occurrences in human gene therapy surgeries and pre‐clinical animal trials. Methods Literature review was performed to identify peer‐reviewed human and animal studies relevant to viral gene ...
Aubrey Berger, Ciera D. Johnson, Alan D. Marmorstein, Brittni A. Scruggs   +3 more
wiley   +1 more source

A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy [PDF]

, 2017
NR2E3 is a gene that encodes for photoreceptor cell specific nuclear receptor, which is involved in cone proliferation. The splice site mutation 119-2A>C in NR2E3 (15q23) has been previously reported to underlie recessive enhanced cone S sensitivity ...
Adackapara, Ikeda, Kobayashi, Milam, Nagelhus   +4 more
core   +2 more sources

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort

Clinical Genetics, Volume 108, Issue 5, Page 532-552, November 2025.
This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli   +7 more
wiley   +1 more source