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Genetic, morphological and electrophysiological findings in a patient with a rare pathogenic variant in the RS1 gene
PurposeIn this study, we report a case of a young adult with X-linked juvenile retinoschisis (XLRS) with a rare pathogenic variant in the RS1 gene...
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Effects of oocyte vitrification on gene expression in the liver and kidney tissues of adult offspring
Oocyte vitrification is an important assisted reproductive technology (ART) that preserves the fertility of unmarried patients with malignant tumors,...
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Management of angle-closure glaucoma with X-linked retinoschisis: a case report
BackgroundX-linked retinoschisis (XLRS), due to mutations in the RS1 gene, is a common genetically determined form of macular degeneration. This...
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Gene Therapy for Inherited Retinal Diseases: From Laboratory Bench to Patient Bedside and Beyond
This comprehensive review provides a thorough examination of inherited retinal diseases (IRDs), encompassing their classification, genetic...
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Development and validation of ultrasound-based radiomics model to predict germline BRCA mutations in patients with breast cancer
BackgroundIdentifying breast cancer (BC) patients with germline breast cancer susceptibility gene (g BRCA ) mutation is important. The current...
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Review of gene therapies for age-related macular degeneration
Gene therapies aim to deliver a therapeutic payload to specified tissues with underlying protein deficiency. Since the 1990s, gene therapies have...
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Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genoty** test?
PurposeTo estimate the probability of high-risk genetic matching when assisted reproductive techniques (ART) are applied with double gamete donation,...
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Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry
BackgroundThe low prevalence of rare diseases poses a significant challenge in advancing their understanding. This study aims to delineate the...
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Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
BackgroundInherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group...
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Diurnal functional and anatomical changes in X-linked retinoschisis
BackgroundTo investigate the changes in macular cystic schisis (MCS) and sensitivity during the day in X-linked retinoschisis (XLRS) patients.
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Sight of Action: the Rationale and Evolution of Gene Therapy Approaches to the Treatment of Retinal Diseases
Purpose of ReviewThis review will summarize ocular gene therapy clinical trials and associated technology that have been initiated within the last...
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Viral vector platforms within the gene therapy landscape
Throughout its 40-year history, the field of gene therapy has been marked by many transitions. It has seen great strides in combating human disease,...
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Treatment-Emergent Adverse Events in Gene Therapy Trials for Inherited Retinal Diseases: A Narrative Review
Patient safety is a primary priority in the conduction of retinal gene therapy trials. An understanding of risk factors and mitigation strategies for...
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A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023
BackgroundInherited retinal degenerations (IRDs) are a group of rare genetic conditions affecting retina of the eye that range in prevalence from 1...
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Neuroimaging genetics approaches to identify new biomarkers for the early diagnosis of autism spectrum disorder
Autism-spectrum disorders (ASDs) are developmental disabilities that manifest in early childhood and are characterized by qualitative abnormalities...
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Identification of Interphotoreceptor retinoid-binding protein in the Schisis cavity fluid of a patient with congenital X-linked Retinoschisis
BackgroundThis case report describes the surgical outcome in a patient with congenital X-linked retinoschisis (CXLRS) and the results of proteomic...
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Mutations in Coding and Non-Coding Regions in Varicella-Zoster Virus Causing Fatal Hemorrhagic Fever Without Rash in an Immunocompetent Patient: Case Report
IntroductionWe report the case of a fatal hemorrhagic varicella primary infection in an immunocompetent man and whole-genome characterization of the...
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From odor to oncology: non-canonical odorant receptors in cancer
Odorant receptors, traditionally associated with olfaction as chemoreceptors, have been increasingly recognized for their presence and diverse...
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Whole-exome sequencing reveals ANO8 as a genetic risk factor for intrahepatic cholestasis of pregnancy
BackgroundIntrahepatic cholestasis of pregnancy (ICP) is characterized by pruritus and cholestasis in late pregnancy and results in adverse pregnancy...
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Effect of light and diurnal variation on macular thickness in X-linked retinoschisis: a case series
BackgroundDiurnal variations in foveal thickness have been reported in several ocular pathologies including X-linked retinoschisis (XLRS), but its...
