Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1965 1
1967 2
1969 3
1970 4
1971 2
1972 2
1973 5
1975 5
1976 5
1977 8
1978 5
1979 8
1980 6
1981 10
1982 16
1983 9
1984 16
1985 10
1986 12
1987 15
1988 18
1989 18
1990 20
1991 21
1992 36
1993 26
1994 38
1995 35
1996 39
1997 44
1998 43
1999 46
2000 32
2001 43
2002 39
2003 51
2004 49
2005 53
2006 56
2007 70
2008 76
2009 61
2010 92
2011 122
2012 117
2013 157
2014 143
2015 147
2016 164
2017 175
2018 193
2019 198
2020 226
2021 234
2022 223
2023 203
2024 85

Text availability

Article attribute

Article type

Publication date

Search Results

3,083 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Retinal dystrophy with or without macular staphyloma"
Page 1
Non-syndromic retinitis pigmentosa.
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ. Verbakel SK, et al. Prog Retin Eye Res. 2018 Sep;66:157-186. doi: 10.1016/j.preteyeres.2018.03.005. Epub 2018 Mar 27. Prog Retin Eye Res. 2018. PMID: 29597005 Free article. Review.
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. ...In addition, we discuss the genes involved in the pathogenesis of RP, as well as the retinal processes …
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of ro …
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.
Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, Cross D, Marshall KA, Walshire J, Kehoe TL, Reichert H, Davis M, Raffini L, George LA, Hudson FP, Dingfield L, Zhu X, Haller JA, Sohn EH, Mahajan VB, Pfeifer W, Weckmann M, Johnson C, Gewaily D, Drack A, Stone E, Wachtel K, Simonelli F, Leroy BP, Wright JF, High KA, Maguire AM. Russell S, et al. Lancet. 2017 Aug 26;390(10097):849-860. doi: 10.1016/S0140-6736(17)31868-8. Epub 2017 Jul 14. Lancet. 2017. PMID: 28712537 Free PMC article. Clinical Trial.
BACKGROUND: Phase 1 studies have shown potential benefit of gene replacement in RPE65-mediated inherited retinal dystrophy. This phase 3 study assessed the efficacy and safety of voretigene neparvovec in participants whose inherited retinal dystrophy w …
BACKGROUND: Phase 1 studies have shown potential benefit of gene replacement in RPE65-mediated inherited retinal dystrophy. Th …
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.
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders characterised by photoreceptor degeneration or dysfunction. ...The scope of this review is to familiarise clinicians and scientists with the current management and the prosp …
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders characterised by photoreceptor de …
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P. Birtel J, et al. Sci Rep. 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. Sci Rep. 2018. PMID: 29555955 Free PMC article.
Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. ...Clinical reassessment of genetically unsolved patients revealed subgrou …
Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal …
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.
Weisschuh N, Obermaier CD, Battke F, Bernd A, Kuehlewein L, Nasser F, Zobor D, Zrenner E, Weber E, Wissinger B, Biskup S, Stingl K, Kohl S. Weisschuh N, et al. Hum Mutat. 2020 Sep;41(9):1514-1527. doi: 10.1002/humu.24064. Epub 2020 Jun 29. Hum Mutat. 2020. PMID: 32531858
We aimed to unravel the molecular genetic basis of inherited retinal degeneration (IRD) in a comprehensive cohort of patients diagnosed in the largest center for IRD in Germany. ...We achieved a molecular diagnostic rate of 35-95%, depending on the clinical entities, with …
We aimed to unravel the molecular genetic basis of inherited retinal degeneration (IRD) in a comprehensive cohort of patients diagnos …
Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities.
Schneider N, Sundaresan Y, Gopalakrishnan P, Beryozkin A, Hanany M, Levanon EY, Banin E, Ben-Aroya S, Sharon D. Schneider N, et al. Prog Retin Eye Res. 2022 Jul;89:101029. doi: 10.1016/j.preteyeres.2021.101029. Epub 2021 Nov 25. Prog Retin Eye Res. 2022. PMID: 34839010 Review.
Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual impairment phenotypes caused by pathogenic variants in at least 277 nuclear and mitochondrial genes, affecting different retinal regions, and depleting the vision of affected …
Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual impairment phenotypes caused by pathogeni …
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L. Colombo L, et al. Invest Ophthalmol Vis Sci. 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. Invest Ophthalmol Vis Sci. 2021. PMID: 33576794 Free PMC article.
RESULTS: The mean diagnostic yield of molecular testing among patients with a family history of retinal disorders was 55.2% while the diagnostic yield including sporadic cases was 37.4%. ...All three probands showed isolated RP caused by biallelic variants in genes usually …
RESULTS: The mean diagnostic yield of molecular testing among patients with a family history of retinal disorders was 55.2% while the …
An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials.
Chiu W, Lin TY, Chang YC, Isahwan-Ahmad Mulyadi Lai H, Lin SC, Ma C, Yarmishyn AA, Lin SC, Chang KJ, Chou YB, Hsu CC, Lin TC, Chen SJ, Chien Y, Yang YP, Hwang DK. Chiu W, et al. Int J Mol Sci. 2021 Apr 26;22(9):4534. doi: 10.3390/ijms22094534. Int J Mol Sci. 2021. PMID: 33926102 Free PMC article. Review.
Inherited retinal dystrophies (IRDs) are a group of rare eye diseases caused by gene mutations that result in the degradation of cone and rod photoreceptors or the retinal pigment epithelium. ...Thus, gene therapies that restore functional retinal prot …
Inherited retinal dystrophies (IRDs) are a group of rare eye diseases caused by gene mutations that result in the degradation …
Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.
Nguyen XT, Moekotte L, Plomp AS, Bergen AA, van Genderen MM, Boon CJF. Nguyen XT, et al. Int J Mol Sci. 2023 Apr 19;24(8):7481. doi: 10.3390/ijms24087481. Int J Mol Sci. 2023. PMID: 37108642 Free PMC article. Review.
Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies characterized by the degeneration of rod photoreceptors, followed by the degeneration of cone photoreceptors. ...While RP is currently untreatable for the majority of patients, significant …
Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies characterized by the degeneration of rod photorec …
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A, Yoshitake K, Minematsu N, Tsunoda K, Fujinami K, Miyake Y, Kuniyoshi K, Hayashi T, Mizobuchi K, Ueno S, Terasaki H, Kominami T, Nao-I N, Mawatari G, Mizota A, Shinoda K, Kondo M, Kato K, Sekiryu T, Nakamura M, Kusuhara S, Yamamoto H, Yamamoto S, Mochizuki K, Kondo H, Matsushita I, Kameya S, Fukuchi T, Hatase T, Horiguchi M, Shimada Y, Tanikawa A, Yamamoto S, Miura G, Ito N, Murakami A, Fujimaki T, Hotta Y, Tanaka K, Iwata T. Suga A, et al. Hum Mutat. 2022 Dec;43(12):2251-2264. doi: 10.1002/humu.24492. Epub 2022 Nov 7. Hum Mutat. 2022. PMID: 36284460
Inherited retinal diseases (IRDs) comprise a phenotypically and genetically heterogeneous group of ocular disorders that cause visual loss via progressive retinal degeneration. ...The most common phenotype was retinitis pigmentosa (RP, 43%), followed by macular …
Inherited retinal diseases (IRDs) comprise a phenotypically and genetically heterogeneous group of ocular disorders that cause visual …
3,083 results