| RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India. | RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.
Parameswarappa DC, Bagga DK, Upadhyaya A, Balasubramanian J, Pochaboina V, Muthineni V, Jalali S, Kannabiran C. | 09/16/2024 |
| RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec. | RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec.
Stingl K, Priglinger C, Herrmann P. | 03/22/2024 |
| Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants. | Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.
Wu J, Sun Z, Zhang DW, Liu HL, Li T, Zhang S, Wu J., Free PMC Article | 08/9/2023 |
| Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee. | Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.
Han J, Joo K, Kim US, Woo SJ, Lee EK, Lee JY, Park TK, Kim SJ, Byeon SH., Free PMC Article | 04/26/2023 |
| The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner. | The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.
Vázquez-Domínguez I, Duijkers L, Fadaie Z, Alaerds ECW, Post MA, van Oosten EM, O'Gorman L, Kwint M, Koolen L, Hoogendoorn ADM, Kroes HY, Gilissen C, Cremers FPM, Collin RWJ, Roosing S, Garanto A., Free PMC Article | 01/28/2023 |
| Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy. | Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy.
Kahraman NS, Öner A, Özkul Y, Dündar M., Free PMC Article | 09/3/2022 |
| Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations. | Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations.
Poli G, Barravecchia I, Demontis GC, Sodi A, Saba A, Rizzo S, Macchia M, Tuccinardi T., Free PMC Article | 06/25/2022 |
| Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review. | Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.
Sallum JMF, Kaur VP, Shaikh J, Banhazi J, Spera C, Aouadj C, Viriato D, Fischer MD., Free PMC Article | 03/19/2022 |
| Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis. | Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis.
Gange WS, Sisk RA, Besirli CG, Lee TC, Havunjian M, Schwartz H, Borchert M, Sengillo JD, Mendoza C, Berrocal AM, Nagiel A., Free PMC Article | 03/12/2022 |
| RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study. | RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.
Testa F, Murro V, Signorini S, Colombo L, Iarossi G, Parmeggiani F, Falsini B, Salvetti AP, Brunetti-Pierri R, Aprile G, Bertone C, Suppiej A, Romano F, Karali M, Donati S, Melillo P, Sodi A, Quaranta L, Rossetti L, Buzzonetti L, Chizzolini M, Rizzo S, Staurenghi G, Banfi S, Azzolini C, Simonelli F., Free PMC Article | 02/26/2022 |
| 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. | 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. | 02/12/2022 |
| Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations. | Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.
Huang CH, Yang CM, Yang CH, Hou YC, Chen TC., Free PMC Article | 02/5/2022 |
| Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis. | Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis.
Motta FL, Filippelli-Silva R, Kitajima JP, Batista DA, Wohler ES, Sobreira NL, Martin RP, Ferraz Sallum JM. | 01/29/2022 |
| RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients. | RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
Lopez-Rodriguez R, Lantero E, Blanco-Kelly F, Avila-Fernandez A, Martin Merida I, Del Pozo-Valero M, Perea-Romero I, Zurita O, Jiménez-Rolando B, Swafiri ST, Riveiro-Alvarez R, Trujillo-Tiebas MJ, Carreño Salas E, García-Sandoval B, Corton M, Ayuso C. | 12/18/2021 |
| A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1). | A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).
Pappalardo J, Heath Jeffery RC, Thompson JA, Chelva E, Pham Q, Constable IJ, McLaren TL, Lamey TM, De Roach JN, Chen FK. | 10/23/2021 |
| Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy. | 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., Free PMC Article | 09/25/2021 |
| Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa. | Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa.
Owczarek-Lipska M, Song F, Jakšić V, Neidhardt J. | 08/21/2021 |
| Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa. | Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa.
Kiang AS, Kenna PF, Humphries MM, Ozaki E, Koenekoop RK, Campbell M, Farrar GJ, Humphries P., Free PMC Article | 07/24/2021 |
| Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population. | Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population.
Gao FJ, Wang DD, Li JK, Hu FY, Xu P, Chen F, Qi YH, Liu W, Li W, Zhang SH, Chang Q, Xu GZ, Wu JH., Free PMC Article | 07/24/2021 |
| Voretigene Neparvovec: A Review in RPE65 Mutation-Associated Inherited Retinal Dystrophy. | Voretigene Neparvovec: A Review in RPE65 Mutation-Associated Inherited Retinal Dystrophy.
Kang C, Scott LJ. | 07/17/2021 |
| LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS. | LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS.
Pierrache LHM, Ghafaryasl B, Khan MI, Yzer S, van Genderen MM, Schuil J, Boonstra FN, Pott JWR, de Faber JTHN, Tjon-Fo-Sang MJH, Vermeer KA, Cremers FPM, Klaver CCW, van den Born LI. | 07/10/2021 |
| Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy. | Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.
Yang U, Gentleman S, Gai X, Gorin MB, Borchert MS, Lee TC, Villanueva A, Koenekoop R, Maguire AM, Bennett J, Redmond TM, Nagiel A., Free PMC Article | 06/26/2021 |
| RPE65 and retinal dystrophy: Report of new and recurrent mutations. | RPE65 and retinal dystrophy: Report of new and recurrent mutations.
Safari S, Zare-Abdollahi D, Bushehri A, Safari MR, Dehghani A, Tahmasebi Z, Khorram Khorshid HR, Ghadami M. | 06/5/2021 |
| Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65. | Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65.
Jauregui R, Cho A, Oh JK, Tanaka AJ, Sparrow JR, Tsang SH., Free PMC Article | 05/29/2021 |
| Involvement of the Retinal Pigment Epithelium in the Development of Retinal Lattice Degeneration. | Involvement of the Retinal Pigment Epithelium in the Development of Retinal Lattice Degeneration.
Mizuno H, Fukumoto M, Sato T, Horie T, Kida T, Oku H, Nakamura K, Jin D, Takai S, Ikeda T., Free PMC Article | 02/27/2021 |