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Page 1
Retinal gene therapy.
Kumaran N, Michaelides M, Smith AJ, Ali RR, Bainbridge JWB. Kumaran N, et al. Br Med Bull. 2018 Jun 1;126(1):13-25. doi: 10.1093/bmb/ldy005. Br Med Bull. 2018. PMID: 29506236 Review.
AREAS OF AGREEMENT: Gene therapy can improve vision in RPE65-associated Leber Congenital Amaurosis (RPE65-LCA). Potential benefit depends on efficient gene transfer and is limited by the extent of retinal degeneration. ...
AREAS OF AGREEMENT: Gene therapy can improve vision in RPE65-associated Leber Congenital Amaurosis (RPE65-LCA). Potenti …
Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.
Manley A, Meshkat BI, Jablonski MM, Hollingsworth TJ. Manley A, et al. Biomolecules. 2023 Feb 1;13(2):271. doi: 10.3390/biom13020271. Biomolecules. 2023. PMID: 36830640 Free PMC article. Review.
Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial. ...
Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including d …
Leber's congenital amaurosis: an update.
Fazzi E, Signorini SG, Scelsa B, Bova SM, Lanzi G. Fazzi E, et al. Eur J Paediatr Neurol. 2003;7(1):13-22. doi: 10.1016/s1090-3798(02)00135-6. Eur J Paediatr Neurol. 2003. PMID: 12615170 Review.
Leber's congenital amaurosis (LCA) is a clinically and genetically heterogeneous disorder characterized by severe loss of vision at birth. It accounts for 10-18% of cases of congenital blindness. Some patients exhibit only blindness of retinal origin w
Leber's congenital amaurosis (LCA) is a clinically and genetically heterogeneous disorder characterized by severe loss
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.
Chung DC, Traboulsi EI. Chung DC, et al. J AAPOS. 2009 Dec;13(6):587-92. doi: 10.1016/j.jaapos.2009.10.004. J AAPOS. 2009. PMID: 20006823 Review.
Leber congenital amaurosis comprises a group of early onset childhood retinal dystrophies, characterized by vision loss, nystagmus, and severe retinal dysfunction. ...
Leber congenital amaurosis comprises a group of early onset childhood retinal dystrophies, characterized by vision loss
RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.
Koenekoop RK. Koenekoop RK. Ophthalmic Genet. 2005 Dec;26(4):175-9. doi: 10.1080/13816810500374441. Ophthalmic Genet. 2005. PMID: 16352478 Review.
RPGRIP1 encodes the retinitis pigmentosa GTPase interacting protein 1 and interacts with RPGR, the latter represents the major X-linked RP (XRRP) gene, as it accounts for 70-80% of the XRRP patients and up to 13% of all RP patients. RPGRIP1 contains a C-terminal RPGR inter …
RPGRIP1 encodes the retinitis pigmentosa GTPase interacting protein 1 and interacts with RPGR, the latter represents the major X-linked RP ( …
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. ...
Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include retinitis pigmentosa (RP) and Leber congeni
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. Sallum JMF, et al. Adv Ther. 2022 Mar;39(3):1179-1198. doi: 10.1007/s12325-021-02036-7. Epub 2022 Jan 30. Adv Ther. 2022. PMID: 35098484 Free PMC article. Review.
Adult and paediatric patients with vision loss due to IRD caused by biallelic mutations in the 65-kDa retinal pigment epithelium (RPE65) gene are often clinically diagnosed as retinitis pigmentosa (RP), and Leber congenital amaurosis (LCA). This study aimed t …
Adult and paediatric patients with vision loss due to IRD caused by biallelic mutations in the 65-kDa retinal pigment epithelium (RPE65) gen …
The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control.
Hernandez CC, Gimenez LE, Dahir NS, Peisley A, Cone RD. Hernandez CC, et al. Am J Physiol Cell Physiol. 2023 Mar 1;324(3):C694-C706. doi: 10.1152/ajpcell.00335.2022. Epub 2023 Jan 30. Am J Physiol Cell Physiol. 2023. PMID: 36717105 Free PMC article. Review.
Accordingly, retinopathy-associated Kir7.1 mutations mapped at the binding site for PIP(2) resulted in channel gating defects leading to channelopathies such as snowflake vitreoretinal degeneration and Leber congenital amaurosis in blind patients. Lately, thi …
Accordingly, retinopathy-associated Kir7.1 mutations mapped at the binding site for PIP(2) resulted in channel gating defects leading to cha …
The clinical evaluation of infantile nystagmus: What to do first and why.
Bertsch M, Floyd M, Kehoe T, Pfeifer W, Drack AV. Bertsch M, et al. Ophthalmic Genet. 2017 Jan-Feb;38(1):22-33. doi: 10.1080/13816810.2016.1266667. Ophthalmic Genet. 2017. PMID: 28177849 Free PMC article. Review.
RESULTS: A total of 284 charts were identified; 202 met inclusion criteria. The three most common causes were Albinism (19%), Leber Congenital Amaurosis (LCA; 14%), and Non-LCA retinal dystrophy (13%). ...
RESULTS: A total of 284 charts were identified; 202 met inclusion criteria. The three most common causes were Albinism (19%), Leber