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Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
Aoun M, Passerini I, Chiurazzi P, Karali M, De Rienzo I, Sartor G, Murro V, Filimonova N, Seri M, Banfi S. Aoun M, et al. Int J Mol Sci. 2021 Jul 5;22(13):7207. doi: 10.3390/ijms22137207. Int J Mol Sci. 2021. PMID: 34281261 Free PMC article. Review.
Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EO[S]RD), which differ in severity and age of onset. IRDs are cause …
Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include retinitis pigmentosa (RP) and Leber congeni …
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. ...The obtained data in this study will be of value in counselling patients and designing future therapeut …
Leber congenital amaurosis (LCA) is the most severe form of retinopathy and cone/cone-rod dystrophy (CORD) is a common …
Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence.
Sumaroka A, Garafalo AV, Semenov EP, Sheplock R, Krishnan AK, Roman AJ, Jacobson SG, Cideciyan AV. Sumaroka A, et al. Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2551-2562. doi: 10.1167/iovs.19-27156. Invest Ophthalmol Vis Sci. 2019. PMID: 31212307 Free PMC article.
PURPOSE: To use supervised machine learning to predict visual function from retinal structure in retinitis pigmentosa (RP) and apply these estimates to CEP290- and NPHP5-associated Leber congenital amaurosis (LCA) to determine the potential for functional imp …
PURPOSE: To use supervised machine learning to predict visual function from retinal structure in retinitis pigmentosa (RP) and apply these e …
Current Management of Patients with RPE65 Mutation-Associated Inherited Retinal Degenerations in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network.
Lorenz B, Tavares J, van den Born LI, Marques JP, Scholl HPN; EVICR.net Group. Lorenz B, et al. Ophthalmic Res. 2021;64(5):740-753. doi: 10.1159/000515688. Epub 2021 Mar 8. Ophthalmic Res. 2021. PMID: 33684911 Free article.
Fifty-nine percent of mutations were ACMG Class 4 and 5 (at least 1 allele), 82.8% reported previously and 17.2% novel. Referral diagnoses (the mean per center) were Leber congenital amaurosis (38.2%), early-onset severe retinal degeneration (16.8%), r …
Fifty-nine percent of mutations were ACMG Class 4 and 5 (at least 1 allele), 82.8% reported previously and 17.2% novel. Referral diagnoses ( …