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Quoted phrase not found in phrase index: "Retinitis pigmentosa 30"
Page 1
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM. Zampaglione E, et al. Genet Med. 2020 Jun;22(6):1079-1087. doi: 10.1038/s41436-020-0759-8. Epub 2020 Feb 10. Genet Med. 2020. PMID: 32037395 Free PMC article.
The NGS data were used to detect CNVs with ExomeDepth and gCNV and the results were compared with CNV detection with a single-nucleotide polymorphism (SNP) array. Likely causal CNV predictions were validated by quantitative polymerase chain reaction (qPCR). ...
The NGS data were used to detect CNVs with ExomeDepth and gCNV and the results were compared with CNV detection with a single-nucleotide pol …
Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker.
Comander J, Weigel DiFranco C, Sanderson K, Place E, Maher M, Zampaglione E, Zhao Y, Huckfeldt RM, Bujakowska KM, Pierce E. Comander J, et al. JCI Insight. 2023 Aug 8;8(15):e167546. doi: 10.1172/jci.insight.167546. JCI Insight. 2023. PMID: 37261916 Free PMC article. Clinical Trial.
BACKGROUNDA randomized clinical trial from 1984 to 1992 indicated that vitamin A supplementation had a beneficial effect on the progression of retinitis pigmentosa (RP), while vitamin E had an adverse effect.METHODSSequencing of banked DNA samples from that trial pr …
BACKGROUNDA randomized clinical trial from 1984 to 1992 indicated that vitamin A supplementation had a beneficial effect on the progression …
Cone rod dystrophies.
Hamel CP. Hamel CP. Orphanet J Rare Dis. 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. Orphanet J Rare Dis. 2007. PMID: 17270046 Free PMC article. Review.
CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the macular region. In contrast to typical retinitis pigmentosa (RP), also called the rod cone dystrophies (RCDs) resulting from the primary loss in rod phot …
CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the macular region. In contrast …
Anatomical and functional correlates of cystic macular edema in retinitis pigmentosa.
Ruff A, Tezel A, Tezel TH. Ruff A, et al. PLoS One. 2022 Oct 21;17(10):e0276629. doi: 10.1371/journal.pone.0276629. eCollection 2022. PLoS One. 2022. PMID: 36269735 Free PMC article.
Cystoid macular edema (CME) is a major cause of central visual deterioration in retinitis pigmentosa. The exact reason for CME and its prognostic significance in this patient population is unknown. ...This finding suggests that intraretinal cysts may compress …
Cystoid macular edema (CME) is a major cause of central visual deterioration in retinitis pigmentosa. The exact reason for CME …
Course of Ocular Function in PRPF31 Retinitis Pigmentosa.
Hafler BP, Comander J, Weigel DiFranco C, Place EM, Pierce EA. Hafler BP, et al. Semin Ophthalmol. 2016;31(1-2):49-52. doi: 10.3109/08820538.2015.1114856. Semin Ophthalmol. 2016. PMID: 26959129 Free PMC article. Review.
Mutations in pre-mRNA splicing factors are the second most common cause of autosomal dominant retinitis pigmentosa, and a major cause of vision loss. The development of gene augmentation therapy for disease caused by mutations in PRPF31 necessitates defining pretrea …
Mutations in pre-mRNA splicing factors are the second most common cause of autosomal dominant retinitis pigmentosa, and a majo …
Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.
Georgiou M, Grewal PS, Narayan A, Alser M, Ali N, Fujinami K, Webster AR, Michaelides M. Georgiou M, et al. Am J Ophthalmol. 2021 Jan;221:299-310. doi: 10.1016/j.ajo.2020.08.004. Epub 2020 Aug 12. Am J Ophthalmol. 2021. PMID: 32795431 Free PMC article.
PURPOSE: To determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling. ...The longitudinal data provided will help to make accurate patient prognoses and counseling as well as inform patients' pot …
PURPOSE: To determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient coun …
Genetic profile of syndromic retinitis pigmentosa in Portugal.
Cortinhal T, Santos C, Vaz-Pereira S, Marta A, Duarte L, Miranda V, Costa J, Sousa AB, Peter VG, Kaminska K, Rivolta C, Carvalho AL, Saraiva J, Soares CA, Silva R, Murta J, Santos LC, Marques JP. Cortinhal T, et al. Graefes Arch Clin Exp Ophthalmol. 2024 Jun;262(6):1883-1897. doi: 10.1007/s00417-023-06360-2. Epub 2024 Jan 8. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 38189974 Free PMC article.
PURPOSE: Retinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20-30% of patients exhibit extra-ocular manifestations (syndromic RP). ...This has major implications in determining disease-relat …
PURPOSE: Retinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degeneratio …
Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.
Verdina T, Greenstein VC, Tsang SH, Murro V, Mucciolo DP, Passerini I, Mastropasqua R, Cavallini GM, Virgili G, Giansanti F, Sodi A. Verdina T, et al. Mol Vis. 2021 Feb 5;27:78-94. eCollection 2021. Mol Vis. 2021. PMID: 33688152 Free PMC article.
PURPOSE: To describe clinical and genetic features in a series of Italian patients with sector retinitis pigmentosa (sector RP). METHODS: Fifteen patients with sector RP were selected from the database of Hereditary Retinal Degenerations Referring Center of Careggi …
PURPOSE: To describe clinical and genetic features in a series of Italian patients with sector retinitis pigmentosa (sector RP …
Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, Michaelides M. Daich Varela M, et al. Ophthalmology. 2023 Dec;130(12):1327-1335. doi: 10.1016/j.ophtha.2023.07.027. Epub 2023 Aug 5. Ophthalmology. 2023. PMID: 37544434 Free PMC article.
RESULTS: The prevalence of IRD-related CLV was 0.5%; 54% of patients had isolated retinitis pigmentosa (RP), 21% had early-onset severe retinal dystrophy, and less frequent presentations were syndromic RP, sector RP, cone-rod dystrophy, achromatopsia, PAX6-related d …
RESULTS: The prevalence of IRD-related CLV was 0.5%; 54% of patients had isolated retinitis pigmentosa (RP), 21% had early-ons …
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA. Schwartz SG, et al. Cochrane Database Syst Rev. 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. Cochrane Database Syst Rev. 2020. PMID: 32573764 Free PMC article.
BACKGROUND: Retinitis pigmentosa (RP) comprises a group of hereditary eye diseases characterized by progressive degeneration of retinal photoreceptors. ...Visual field loss is progressive and affects central vision later in the disease course. The worldwide p …
BACKGROUND: Retinitis pigmentosa (RP) comprises a group of hereditary eye diseases characterized by progressive degeneration o …
184 results