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The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review.
Britten-Jones AC, Jin R, Gocuk SA, Cichello E, O'Hare F, Hickey DG, Edwards TL, Ayton LN. Britten-Jones AC, et al. Genet Med. 2022 Mar;24(3):521-534. doi: 10.1016/j.gim.2021.10.013. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906485 Free article. Review.
RESULTS: This study identified 47 full-text publications, 50 conference abstracts, and 54 clinical trial registry entries describing DNA-based ocular gene therapy treatments for 16 different genetic variants. Study summaries and visual representations of safety and efficac …
RESULTS: This study identified 47 full-text publications, 50 conference abstracts, and 54 clinical trial registry entries describing DNA-bas …
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Yi Z, Xiao X, Li S, Sun W, Zhang Q. Yi Z, et al. Exp Eye Res. 2019 Dec;189:107846. doi: 10.1016/j.exer.2019.107846. Epub 2019 Oct 15. Exp Eye Res. 2019. PMID: 31626798 Free article.
The cone-rod homeobox (CRX) gene is specifically expressed in developing and mature photoreceptors and is relatively conserved, with limited polymorphisms in coding regions. ...After detailed phenotypic analysis and cosegregation analysis in families with CRX varian …
The cone-rod homeobox (CRX) gene is specifically expressed in developing and mature photoreceptors and is relatively conserved …
Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
Shah M, Shanks M, Packham E, Williams J, Haysmoore J, MacLaren RE, Németh AH, Clouston P, Downes SM. Shah M, et al. Ophthalmic Genet. 2020 Aug;41(4):331-337. doi: 10.1080/13816810.2020.1778736. Epub 2020 Jun 16. Ophthalmic Genet. 2020. PMID: 32543920
The diagnostic yield was highest from panels representing distinct clinical phenotypes: Usher panel 90.9% and congenital stationary night blindness panel 75.0%. Retinitis pigmentosa/rod-cone dystrophy was the commonest presenting phenotype (n = 243) and Usher …
The diagnostic yield was highest from panels representing distinct clinical phenotypes: Usher panel 90.9% and congenital stationary night bl …
Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec.
Stingl K, Kempf M, Bartz-Schmidt KU, Dimopoulos S, Reichel F, Jung R, Kelbsch C, Kohl S, Kortüm FC, Nasser F, Peters T, Wilhelm B, Wissinger B, Wozar F, Zrenner E, Fischer MD, Stingl K. Stingl K, et al. Br J Ophthalmol. 2022 Jun;106(6):831-838. doi: 10.1136/bjophthalmol-2020-318286. Epub 2021 Jan 20. Br J Ophthalmol. 2022. PMID: 33472769 Free PMC article.
BACKGROUND: Voretigene neparvovec is a gene therapeutic agent for treatment of retinal dystrophies caused by bi-allelic RPE65 mutations. ...CPC and DAC present new and fast ways to assess functional changes in retinotopic maps of rod and cone function, …
BACKGROUND: Voretigene neparvovec is a gene therapeutic agent for treatment of retinal dystrophies caused by bi-allelic RPE65 …
Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.
Burstedt M, Jonsson F, Köhn L, Burstedt M, Kivitalo M, Golovleva I. Burstedt M, et al. Acta Ophthalmol. 2013 Aug;91(5):437-44. doi: 10.1111/j.1755-3768.2012.02431.x. Epub 2012 May 2. Acta Ophthalmol. 2013. PMID: 22551409 Free article.
Retrospective VA and VFs, standardized dark adaptation and full-field electroretinograms (ERGs) were analysed and prolonged dark adaptometry and ERG (at 24 hr) were performed. RESULTS: Progressive decline of VA and VF areas was age-dependent. ...Reduced dark adaptation and …
Retrospective VA and VFs, standardized dark adaptation and full-field electroretinograms (ERGs) were analysed and prolonged dark adaptometry …
The role of molecular genetics in the prenatal diagnosis of retinal dystrophies.
Evans K, Gregory CY, Fryer A, Whittaker J, Duvall-Young J, Bird AC, Jay MR, Bhattacharya SS. Evans K, et al. Eye (Lond). 1995;9 ( Pt 1):24-8. doi: 10.1038/eye.1995.3. Eye (Lond). 1995. PMID: 7713246
Inherited retinal dystrophies are important causes of incurable blindness in developed countries. ...To study the predictive power of these techniques a simulated genetic risk estimation was undertaken in a cone-rod retinal dystrophy pedigree known to …
Inherited retinal dystrophies are important causes of incurable blindness in developed countries. ...To study the predictive power of …
Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.
Daher A, Banjak M, Noureldine J, Nehme J, El Shamieh S. Daher A, et al. BMC Ophthalmol. 2024 Apr 15;24(1):167. doi: 10.1186/s12886-024-03419-4. BMC Ophthalmol. 2024. PMID: 38622537 Free PMC article.
RESULTS: A novel bi-allelic missense in the exon 9 of CRB1; c.2936G > A; p.(Gly979Asp) was found to be associated with rod-cone dystrophy (RCD). CRB1 mutation type, exons, domains, and genotype distribution varied significantly according to fundus characte …
RESULTS: A novel bi-allelic missense in the exon 9 of CRB1; c.2936G > A; p.(Gly979Asp) was found to be associated with rod-cone …