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Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes.
Daich Varela M, Georgiadis A, Michaelides M. Daich Varela M, et al. Br J Ophthalmol. 2023 Sep;107(9):1223-1230. doi: 10.1136/bjo-2022-321903. Epub 2022 Aug 29. Br J Ophthalmol. 2023. PMID: 36038193 Review.
Inherited retinal diseases (IRDs) have been in the front line of gene therapy development for the last decade, providing a useful platform to test novel therapeutic approaches. ...Autosomal dominant macular and cone-rod dystrophies (MD/CORD) cor …
Inherited retinal diseases (IRDs) have been in the front line of gene therapy development for the last decade, providing a useful pla …
Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.
Florea L, Caba L, Gorduza EV. Florea L, et al. Genes (Basel). 2021 Aug 29;12(9):1353. doi: 10.3390/genes12091353. Genes (Basel). 2021. PMID: 34573333 Free PMC article. Review.
The clinical picture is extremely polymorphic. The main clinical features are retinal cone-rod dystrophy, central obesity, postaxial polydactyly, cognitive impairment, hypogonadism and genitourinary abnormalities, and kidney disease. ...
The clinical picture is extremely polymorphic. The main clinical features are retinal cone-rod dystrophy, central obesi …
Preclinical investigations on broccoli-derived sulforaphane for the treatment of ophthalmic disease.
Kwa FAA, Bui BV, Thompson BR, Ayton LN. Kwa FAA, et al. Drug Discov Today. 2023 Sep;28(9):103718. doi: 10.1016/j.drudis.2023.103718. Epub 2023 Jul 17. Drug Discov Today. 2023. PMID: 37467881 Free article. Review.
Common causes include age-related macular degeneration (AMD), diabetic retinopathy (DR), glaucoma and retinitis pigmentosa (RP; also known as 'rod-cone dystrophy'). As the population continues to grow and age globally, an increasing number of people will expe …
Common causes include age-related macular degeneration (AMD), diabetic retinopathy (DR), glaucoma and retinitis pigmentosa (RP; also known a …
Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy.
Bianco L, Arrigo A, Antropoli A, Manitto MP, Martina E, Aragona E, Bandello F, Battaglia Parodi M. Bianco L, et al. JAMA Ophthalmol. 2023 Sep 1;141(9):826-833. doi: 10.1001/jamaophthalmol.2023.3188. JAMA Ophthalmol. 2023. PMID: 37498587
IMPORTANCE: ABCA4-associated retinopathy is a common inherited retinal disease, and its phenotype spans from late-onset macular dystrophy to extensive cone-rod degeneration. Over 2000 disease-causing variants in the ABCA4 gene have been identified. ...Severe …
IMPORTANCE: ABCA4-associated retinopathy is a common inherited retinal disease, and its phenotype spans from late-onset macular dystrophy …
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) an …
The diagnostic yield was highest from panels representing distinct clinical phenotypes: Usher panel 90.9% and congenital stationary n …
Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.
Yi Z, Sun W, Xiao X, Li S, Jia X, Li X, Yu B, Wang P, Zhang Q. Yi Z, et al. Exp Eye Res. 2021 Jul;208:108637. doi: 10.1016/j.exer.2021.108637. Epub 2021 May 26. Exp Eye Res. 2021. PMID: 34048777
Leber congenital amaurosis (LCA) is the most severe form of retinopathy and cone/cone-rod dystrophy (CORD) is a common form of inherited retinopathy. ...There were 48.0% of patients with macular atrophy, 86.4% with severe reduced or extinguished con …
Leber congenital amaurosis (LCA) is the most severe form of retinopathy and cone/cone-rod dystrophy (CORD) is a …
Association between genotype and phenotype in families with mutations in the ABCA4 gene.
Kjellström U. Kjellström U. Mol Vis. 2014 Jan 7;20:89-104. eCollection 2014. Mol Vis. 2014. PMID: 24453473 Free PMC article.
RESULTS: In family 1, the proband (age 23) was homozygote for the c768 G>T mutation. She was diagnosed with cone rod dystrophy (CRD) while her aunt (age 69) was compound heterozygote for the c768 G>T and c2894 A>G mutations and had autosomal recessiv …
RESULTS: In family 1, the proband (age 23) was homozygote for the c768 G>T mutation. She was diagnosed with cone rod dys …
RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.
Ruddle JB, Ebenezer ND, Kearns LS, Mulhall LE, Mackey DA, Hardcastle AJ. Ruddle JB, et al. Br J Ophthalmol. 2009 Sep;93(9):1151-4. doi: 10.1136/bjo.2008.153908. Epub 2009 May 7. Br J Ophthalmol. 2009. PMID: 19429592
Mutations in RPGR ORF15 have also been documented to cause X linked cone-rod dystrophy (XLCORD) and atrophic macular degeneration at an unknown frequency. ...CONCLUSION: RPGR ORF15 mutations produce intrafamilial and interfamilial clinical variability with va …
Mutations in RPGR ORF15 have also been documented to cause X linked cone-rod dystrophy (XLCORD) and atrophic macular de …
Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram.
Nishiguchi KM, Kunikata H, Fujita K, Hashimoto K, Koyanagi Y, Akiyama M, Ikeda Y, Momozawa Y, Sonoda KH, Murakami A, Wada Y, Nakazawa T. Nishiguchi KM, et al. Clin Exp Ophthalmol. 2020 Jul;48(5):644-657. doi: 10.1111/ceo.13743. Epub 2020 Mar 17. Clin Exp Ophthalmol. 2020. PMID: 32112665
BACKGROUND: To perform a phenotype-genotype correlation analysis in two groups of patients with heterozygous mutations in distinct locations of the CRX gene, encoding the cone-rod homeobox. DESIGN: Multicentre retrospective study. PARTICIPANTS: Twenty-one Japanese p …
BACKGROUND: To perform a phenotype-genotype correlation analysis in two groups of patients with heterozygous mutations in distinct locations …
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.
Finally, we quantified the effect of various non-modifiable factors over the best-corrected visual acuity oculus uterque (BCVA OU) using multivariate linear regression models and identified genetic interactions. RESULTS: A novel bi-allelic missense in the exon 9 of CRB1; c …
Finally, we quantified the effect of various non-modifiable factors over the best-corrected visual acuity oculus uterque (BCVA OU) using mul …
13 results