Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities
N Schneider, Y Sundaresan, P Gopalakrishnan… - Progress in retinal and …, 2022 - Elsevier
Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation …
PD Stenson, M Mort, EV Ball, K Evans, M Hayden… - Human genetics, 2017 - Springer
Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …
collection of published germline mutations in nuclear genes that underlie, or are closely …
[HTML][HTML] Genetic basis of inherited retinal disease in a molecularly characterized cohort of more than 3000 families from the United Kingdom
Purpose In a large cohort of molecularly characterized inherited retinal disease (IRD)
families, we investigated proportions with disease attributable to causative variants in each …
families, we investigated proportions with disease attributable to causative variants in each …
[HTML][HTML] Retinitis pigmentosa: novel therapeutic targets and drug development
KY Wu, M Kulbay, D Toameh, AQ Xu, A Kalevar… - Pharmaceutics, 2023 - mdpi.com
Retinitis pigmentosa (RP) is a heterogeneous group of hereditary diseases characterized by
progressive degeneration of retinal photoreceptors leading to progressive visual decline. It …
progressive degeneration of retinal photoreceptors leading to progressive visual decline. It …
NGS technologies as a turning point in rare disease research, diagnosis and treatment
A Fernandez-Marmiesse, S Gouveia… - Current medicinal …, 2018 - ingentaconnect.com
Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …
population have a rare disease. Rare diseases are thus a common problem for clinicians …
Optogenetic therapy for visual restoration
D Sakai, H Tomita, A Maeda - International Journal of Molecular Sciences, 2022 - mdpi.com
Optogenetics is a recent breakthrough in neuroscience, and one of the most promising
applications is the treatment of retinal degenerative diseases. Multiple clinical trials are …
applications is the treatment of retinal degenerative diseases. Multiple clinical trials are …
The diagnostic yield of next generation sequencing in inherited retinal diseases: a systematic review and meta-analysis
AC Britten-Jones, SA Gocuk, KL Goh, A Huq… - American Journal of …, 2023 - Elsevier
PURPOSE Accurate genotyping of individuals with inherited retinal diseases (IRD) is
essential for patient management and identifying suitable candidates for gene therapies …
essential for patient management and identifying suitable candidates for gene therapies …
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)
D Sharon, T Ben‐Yosef, N Goldenberg‐Cohen… - Human …, 2020 - Wiley Online Library
Inherited retinal diseases (IRDs) cause visual loss due to dysfunction or progressive
degeneration of photoreceptors. These diseases show marked phenotypic and genetic …
degeneration of photoreceptors. These diseases show marked phenotypic and genetic …
[HTML][HTML] Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa
Retinitis pigmentosa (RP) is the most frequent form of inherited retinal dystrophy. RP is
genetically heterogeneous and the genes identified to date encode proteins involved in a …
genetically heterogeneous and the genes identified to date encode proteins involved in a …
PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models
MV Ivanchenko, DM Hathaway, EM Mulhall… - The Journal of clinical …, 2024 - jci.org
Usher syndrome type 1F (USH1F), resulting from mutations in the protocadherin-15
(PCDH15) gene, is characterized by congenital lack of hearing and balance, and …
(PCDH15) gene, is characterized by congenital lack of hearing and balance, and …