Results 61 to 70 of about 7,532,788 (147)
A Female Case of X-Linked Retinoschisis with Macular Hole Bilaterally
Case Reports in Ophthalmological Medicine, 2020 Purpose. We aimed at reminding that X-linked retinoschisis may also be seen in female patients and share our vitreoretinal surgical experience. Methods. The patient underwent pars plana vitrectomy including the closure of the macular holes with inverted ...
A. Altun
doaj +1 more source
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 +12 more
wiley +1 more source
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 +5 more
wiley +1 more source
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 +3 more
wiley +1 more source
, 2016 To report optical coherence tomography and microperimetric correlated changes in a case of bilateral foveal schisis in progressive X-linked retinoschisis (XLRS) treated with vitrectomy, inner limiting membrane (ILM) peeling, and air ...
Sborgia, Giancarlo +6 more
core +1 more source
X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients.
, 2005 BACKGROUND: Inactivating mutations of the gene RS1 lead to X-linked retinoschisis, a progressive retinal dystrophy characterised by schisis within the inner layers of the neuroretina. The mutation spectrum is large and the phenotype variable.
Roberts, S. A. +6 more
core +6 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 +7 more
wiley +1 more source
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 +7 more
wiley +1 more source
X-linked retinoschisis: An update
, 2007 X-linked retinoschisis is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration.
Sikkink, Stephen K. +4 more
core +1 more source
Bilateral foveal retinoschisis accompanying unilateral peripheral retinoschisis
Indian Journal of Ophthalmology, 2014 X-linked juvenile retinoschisis is a rare hereditary retinal disease characterized by a tangential splitting of the neurosensory retina which may cause early-onset visual impairment.
Nilufer Kocak +2 more
doaj +1 more source