Results 71 to 80 of about 5,980 (178)
BiomedicinesBackground: Retinal and optic nerve disorders are a leading cause of irreversible visual impairment worldwide. Advances in molecular genetics—including next-generation sequencing, genome-wide association studies, and gene-based therapeutic technologies ...
Feliciana Menna +6 more
doaj +1 more source
CONCOMITANT MUTATIONS IN INHERITED RETINAL DYSTROPHIES
, 2021 Purpose: To highlight the challenge of correct reproductive and therapeutic counseling in complex pedigrees with different inherited retinal dystrophies (IRD).
Ana Hervás-Ontiveros +17 more
core +1 more source
Efficacy of topical brinzolamide in children with retinal dystrophies
, 2019 Background: Inherited retinal dystrophies are a leading cause of irreversible blindness in children in the United States. Topical carbonic anhydrase inhibitors have improved central vision and cystoid macular edema in patients with retinal dystrophies ...
Pfeifer, Wanda +5 more
core +2 more sources
BMC Medical GenomicsBackground Inherited retinal diseases (IRDs) are a group of heterogeneous conditions leading to visual impairment and blindness with over 280 associated genes identified so far.
Nicholas Demas +6 more
doaj +1 more source
Artificial intelligence applications in inherited retinal dystrophies
Graefe's Archive for Clinical and Experimental OphthalmologyAbstract Purpose Inherited retinal dystrophies (IRDs) are a heterogeneous group of diseases characterized by genotypic and phenotypic variability and are among the leading causes of blindness in the working-age population in developed countries.
Peter Kiraly, M. Dominik Fischer
openaire +2 more sources
[Gene therapy for retinal dystrophies].
, 2012 Genetic mutations are the cause of inherited retinal dystrophies. The underlying genetic basis of these diseases suggests that a gene therapy approach is logical either to replace or reduce the expression of defective genes.
Charbel Issa, P +5 more
core +1 more source
Scientific Reports, 2017 Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing.
Fabiana Louise Motta +5 more
doaj +1 more source
, 2020 Inherited retinal dystrophies are an assorted group of rare diseases that collectively account for the major cause of visual impairment of genetic origin worldwide.
Ana Rodríguez-Muñoz +4 more
core +1 more source
Frontiers in MedicinePurposeMyopia is a major global health issue, especially among children and adolescents. Understanding its traits and progression is vital for proper management and prevention.
Ana Maria Varošanec +8 more
doaj +1 more source
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype
Frontiers in GeneticsIntroduction:TULP1 exemplifies the remarkable clinical and genetic heterogeneity observed in inherited retinal dystrophies. Our research describes the clinical and molecular characteristics of a patient manifesting an atypical retinal dystrophy pattern ...
Anna Esteve-Garcia +14 more
doaj +1 more source