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
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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
Cone–Rod Dystrophy PCARE-Associated Retinopathy [PDF]
DiagnosticsBackground and Clinical Significance: Biallelic pathogenic variants in the PCARE gene (photoreceptor cilium actin regulator), also known as C2orf71 (chromosome 2 open reading frame 71), are typically associated with retinitis pigmentosa type 54 (RP54 ...
Maria Sopena-Pinilla +7 more
doaj +2 more sources
CERKL-related inherited retinal dystrophy in a Brazilian cohort: genotype-phenotype correlation [PDF]
Experimental Biology and MedicineThe purpose of this study was to analyze the genotype-phenotype of CERKL-related inherited retinal dystrophy in an outpatient clinic. For the study, 2841 medical records of Brazilian patients with a diagnosis of an inherited retinal dystrophy (IRD ...
E. S. Yasaki +5 more
doaj +2 more sources
Case Report: Expanding the LRP5-phenotypic spectrum of the novel c.4462A > G (p.Ser1488Gly) variant with isolated retinal involvement [PDF]
Frontiers in PediatricsBackgroundLRP5-related retinal disease is classically associated with familial exudative vitreoretinopathy (FEVR), whereas biallelic inactivating variants cause osteoporosis-pseudoglioma syndrome. We report a severe congenital FEVR-like retinal dysplasia
Mirjana Bjeloš +12 more
doaj +2 more sources
An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials [PDF]
International Journal of Molecular Sciences, 2021 De-Kuang Hwang +2 more
exaly +2 more sources
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review [PDF]
Genes, 2022 Kareem Sioufi +2 more
exaly +2 more sources
Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy [PDF]
Journal of Clinical Medicine, 2021 Ke Xu, Yang Li, Zi-Bing Jin
exaly +2 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