Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Consanguineous families have a relatively high prevalence of genetic disorders caused by bi-allelic mutations in recessive genes. This study aims to evaluate the effectiveness and efficiency of a consanguinity-based exome sequencing approach ...
Ren-Juan Shen +3 more
doaj +2 more sources
Innate and Autoimmunity in the Pathogenesis of Inherited Retinal Dystrophy [PDF]
Cells, 2020 Inherited retinal dystrophies (RDs) are heterogenous in many aspects including genes involved, age of onset, rate of progression, and treatments. While RDs are caused by a plethora of different mutations, all result in the same outcome of blindness ...
T.J. Hollingsworth, Alecia K. Gross
doaj +2 more sources
Retinal gene therapy in RPE-65 gene mediated inherited retinal dystrophy. [PDF]
Eye (Lond), 2023 Voretigene neparvovec (VN) is a gene therapeutic agent for treatment of retinal dystrophies caused by bi-allelic RPE65 mutations. We illustrate, both the benefits and pitfalls associated with ocular gene therapy in the same patient.Two eyes of one patient with bi-allelic RPE65 mutations have been treated with VN.
Jalil A +4 more
europepmc +3 more sources
CDHR1 variants in a Japanese family with inherited retinal dystrophy and intrafamilial phenotypic variability [PDF]
Frontiers in OphthalmologyIntroductionTo report a Japanese family with inherited retinal dystrophy (IRD) in which CDHR1 variants were identified, and to characterize the marked intrafamilial phenotypic variability.MethodsThis retrospective case series included three brothers ...
Toshiaki Hirakata +5 more
doaj +2 more sources
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes [PDF]
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 +2 more sources
Voretigene neparvovec for inherited retinal dystrophy. [PDF]
Aust Prescr, 2022 europepmc +2 more sources
Retinal Inflammation, Cell Death and Inherited Retinal Dystrophies [PDF]
International Journal of Molecular Sciences, 2021 Inherited retinal dystrophies (IRDs) are a group of retinal disorders that cause progressive and severe loss of vision because of retinal cell death, mainly photoreceptor cells. IRDs include retinitis pigmentosa (RP), the most common IRD. IRDs present a genetic and clinical heterogeneity that makes it difficult to achieve proper treatment.
Lorena Olivares-González +3 more
openaire +5 more sources
Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies [PDF]
Frontiers in Cell and Developmental Biology, 2021 Retinal dystrophies (RD) are a group of Mendelian disorders caused by rare genetic variations leading to blindness. A pathogenic variant may manifest in both dominant or recessive mode and clinical and genetic heterogeneity makes it difficult to establish a precise diagnosis.
Imen Habibi +8 more
openaire +4 more sources
Stem Cell Research, 2022 ABCA4-associated retinal dystrophy is the most frequent inherited retinal dystrophy caused by biallelic variants in ABCA4 gene. We induced a new pluripotent stem cell line (BIOi003-A) from peripheral blood mononuclear cells (PBMCs) of a 14-year-old ...
Lu Tian, Xiao-hui Zhang, Ke Xu, Yang Li
doaj +1 more source
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series
Orphanet Journal of Rare Diseases, 2022 Background Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness.
Jin Kyun Oh +15 more
doaj +1 more source