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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 1
1991 1
1993 1
1995 1
1996 1
1998 2
1999 1
2000 7
2001 2
2002 1
2003 3
2004 7
2005 5
2006 7
2007 13
2008 10
2009 11
2010 17
2011 21
2012 16
2013 24
2014 25
2015 23
2016 19
2017 24
2018 26
2019 26
2020 32
2021 27
2022 33
2023 24
2024 8

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358 results

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Page 1
Gene therapy for inherited retinal diseases: progress and possibilities.
Hu ML, Edwards TL, O'Hare F, Hickey DG, Wang JH, Liu Z, Ayton LN. Hu ML, et al. Clin Exp Optom. 2021 May;104(4):444-454. doi: 10.1080/08164622.2021.1880863. Epub 2021 Mar 2. Clin Exp Optom. 2021. PMID: 33689657 Free article. Review.
Important photoreceptor IRDs include retinitis pigmentosa and Leber congenital amaurosis. Macular dystrophies include Stargardt and Best disease. ...
Important photoreceptor IRDs include retinitis pigmentosa and Leber congenital amaurosis. Macular dystrophies include S …
Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.
Georgiou M, Fujinami K, Michaelides M. Georgiou M, et al. Clin Exp Ophthalmol. 2021 Apr;49(3):270-288. doi: 10.1111/ceo.13917. Epub 2021 Mar 20. Clin Exp Ophthalmol. 2021. PMID: 33686777 Review.
The scope of this review is to familiarise clinicians and scientists with the current management and the prospects for novel therapies for: (1) macular dystrophies, (2) cone and cone-rod dystrophies, (3) cone dysfunction syndromes, (4) Leber congenital amaurosis …
The scope of this review is to familiarise clinicians and scientists with the current management and the prospects for novel therapies for: …
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
Wang H, Wang X, Zou X, Xu S, Li H, Soens ZT, Wang K, Li Y, Dong F, Chen R, Sui R. Wang H, et al. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3642-55. doi: 10.1167/iovs.14-15972. Invest Ophthalmol Vis Sci. 2015. PMID: 26047050 Free PMC article.
PURPOSE: Leber congenital amaurosis (LCA) is an inherited retinal disease that causes early-onset severe visual impairment. ...
PURPOSE: Leber congenital amaurosis (LCA) is an inherited retinal disease that causes early-onset severe visual impairm …
Ciliopathy: Alström Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:179-180. doi: 10.1007/978-3-319-95046-4_35. Adv Exp Med Biol. 2018. PMID: 30578508 Review.
Patients present in childhood with photophobia and nystagmus, and mimic Leber congenital amaurosis (LCA). The fundus shows pigmentary retinopathy with peau d'orange appearance and some fine white dots like drusen around the macula; the disc is pale, with atte …
Patients present in childhood with photophobia and nystagmus, and mimic Leber congenital amaurosis (LCA). The fundus sh …
PNPLA6 disorders: what's in a name?
Liu J, Hufnagel RB. Liu J, et al. Ophthalmic Genet. 2023 Dec;44(6):530-538. doi: 10.1080/13816810.2023.2254830. Epub 2023 Nov 20. Ophthalmic Genet. 2023. PMID: 37732399 Review.
Retinal disease presents with a unique chorioretinal dystrophy that is phenotypically similar to choroideremia and Leber congenital amaurosis. Animal and cellular models support a loss-of-function mechanism. ...
Retinal disease presents with a unique chorioretinal dystrophy that is phenotypically similar to choroideremia and Leber congenita …
Recent developments in pediatric retina.
Cai S, Therattil A, Vajzovic L. Cai S, et al. Curr Opin Ophthalmol. 2020 May;31(3):155-160. doi: 10.1097/ICU.0000000000000650. Curr Opin Ophthalmol. 2020. PMID: 32168002 Review.
Encouraging long-term outcomes of subretinal voretigene neparvovec-rzyl injection for RPE65 mutation-associated Leber congenital amaurosis have inspired research on the optimization of subretinal gene delivery and gene therapy for other inherited retinal dege …
Encouraging long-term outcomes of subretinal voretigene neparvovec-rzyl injection for RPE65 mutation-associated Leber congenital …
Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge.
Holtan JP, Selmer KK, Heimdal KR, Bragadóttir R. Holtan JP, et al. Acta Ophthalmol. 2020 May;98(3):286-295. doi: 10.1111/aos.14218. Epub 2019 Aug 19. Acta Ophthalmol. 2020. PMID: 31429209 Free article.
The most prevalent diseases were as follows: retinitis pigmentosa (54%), Stargardt macular dystrophy (6.5%) and Leber congenital amaurosis (5.2%). A genetic diagnosis was identified in 32% of patients. ...
The most prevalent diseases were as follows: retinitis pigmentosa (54%), Stargardt macular dystrophy (6.5%) and Leber congenital …
Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials.
Daich Varela M, Cabral de Guimaraes TA, Georgiou M, Michaelides M. Daich Varela M, et al. Br J Ophthalmol. 2022 Apr;106(4):445-451. doi: 10.1136/bjophthalmol-2020-318483. Epub 2021 Mar 12. Br J Ophthalmol. 2022. PMID: 33712480 Free PMC article. Review.
Leber congenital amaurosis (LCA) is a severe congenital/early-onset retinal dystrophy. ...
Leber congenital amaurosis (LCA) is a severe congenital/early-onset retinal dystrophy. ...
Gene Therapy in Retinal Dystrophies.
Ziccardi L, Cordeddu V, Gaddini L, Matteucci A, Parravano M, Malchiodi-Albedi F, Varano M. Ziccardi L, et al. Int J Mol Sci. 2019 Nov 14;20(22):5722. doi: 10.3390/ijms20225722. Int J Mol Sci. 2019. PMID: 31739639 Free PMC article. Review.
Several clinical trials are ongoing, and the recent approval of Luxturna, the first gene therapy product for Leber congenital amaurosis, marks the beginning of a new era. Due to its anatomical and functional characteristics, the retina is the organ of choice …
Several clinical trials are ongoing, and the recent approval of Luxturna, the first gene therapy product for Leber congenital …
358 results