Results 21 to 30 of about 1,694 (121)

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

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

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

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

Exploring AAV‐Mediated Gene Therapy for Inner Ear Diseases: from Preclinical Success to Clinical Potential

Advanced Science, Volume 12, Issue 33, September 4, 2025.
Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu, Wuhui He, Yun Xiao, Qiong Wu, Qing Zhang, Tiesong Zhang, Lei Xu, Xinyi Pang   +7 more
wiley   +1 more source

Nanotherapy for Neural Retinal Regeneration

Advanced Science, Volume 12, Issue 24, June 26, 2025.
Nanotechnology enhances ophthalmic treatments by improving drug delivery and regenerating ocular tissues, combating vision loss from retinal diseases through innovative nano‐systems. This review outlines ocular anatomy, pathology, immune microenvironment, and barriers, detailing nanocarrier characteristics, classification, and preparation methods, and ...
Chuyao Yu, Li Dong, Yujia Lv, Xuhan Shi, Ruiheng Zhang, Wenda Zhou, Haotian Wu, Heyan Li, Yitong Li, Zhou Li, Dan Luo, Wen‐Bin Wei   +11 more
wiley   +1 more source

Revolution of AAV in Drug Discovery: From Delivery System to Clinical Application

Journal of Medical Virology, Volume 97, Issue 6, June 2025.
ABSTRACT Adeno‐associated virus (AAV) is a non‐enveloped DNA virus infecting a wide variety of species, tissues, and cell types, which is recognized as a safe and effective method for delivering therapeutic transgenes. AAV vector is the most popular viral gene delivery system in clinical delivery systems with unique and multiple advantages, such as ...
Ling Yin, Hongliang He, Hongliang Zhang, Yuhua Shang, Chengbo Fu, Songquan Wu, Tengchuan Jin   +6 more
wiley   +1 more source

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies

Clinical Genetics, Volume 107, Issue 6, Page 600-611, June 2025.
This study provides clinical practice guidelines to streamline genetic testing for inherited retinal dystrophies (IRDs), underscoring the critical role of molecular diagnosis in enhancing patient care. These recommendations aim to elevate diagnostic accuracy, guide therapeutic decisions, and ultimately improve patient outcomes, marking a significant ...
João Pedro Marques, Célia Azevedo Soares, Ana Luísa Carvalho, Sérgio Estrela‐Silva, Luísa Coutinho Santos, Lina Ramos, Eduardo Silva   +6 more
wiley   +1 more source

Test–retest variability of mesopic microperimetry‐associated parameters in patients with retinitis pigmentosa: REPEAT Study Report No. 2

Acta Ophthalmologica, Volume 103, Issue 3, Page 313-326, May 2025.
Abstract Purpose Understanding test–retest variability (TRV) of mesopic microperimetry is critical for defining meaningful treatment effects in retinitis pigmentosa (RP) trials. This study uniquely evaluates intra‐ and intervisit TRV and coefficients of repeatability (CoRs) for microperimetry parameters in RP patients with varying best‐corrected visual
Jessica S. Karuntu, Maximilian Pfau, Jasleen K. Jolly, Camiel J. F. Boon   +3 more
wiley   +1 more source