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Quoted phrase not found in phrase index: "Retinitis pigmentosa 58"
Page 1
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG. Ma DJ, et al. BMC Med Genomics. 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. BMC Med Genomics. 2021. PMID: 33691693 Free PMC article.
RESULTS: Causative variants were detected in 86/168 (51.2%) IRD patients, including 58/107 (54.2%) with retinitis pigmentosa, 7/15 (46.7%) with cone and cone-rod dystrophy, 2/3 (66.6%) with Usher syndrome, 1/2 (50.0%) with congenital stationary night blindnes …
RESULTS: Causative variants were detected in 86/168 (51.2%) IRD patients, including 58/107 (54.2%) with retinitis pigmentos …
IMPG2-Related Maculopathy.
Birtel J, Caswell R, De Silva SR, Herrmann P, Rehman S, Lotery AJ, Mahroo OA, Michaelides M, Webster AR, MacLaren RE, Charbel Issa P. Birtel J, et al. Am J Ophthalmol. 2024 Feb;258:32-42. doi: 10.1016/j.ajo.2023.10.002. Epub 2023 Oct 6. Am J Ophthalmol. 2024. PMID: 37806544
No manifest maculopathy was observed in 8 individuals (median age, 58 years; range, 43-83 years; BCVA 20/25), all were identified through segregation analysis. ...CONCLUSIONS: Mono-allelic IMPG2 variants may result in haploinsufficiency manifesting as a maculopathy …
No manifest maculopathy was observed in 8 individuals (median age, 58 years; range, 43-83 years; BCVA 20/25), all were identif …
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. Bonnet C, et al. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27. Eur J Hum Genet. 2016. PMID: 27460420 Free PMC article.
Three clinical subtypes (USH1-3) are distinguishable based on the severity of the sensorineural hearing impairment, the presence or absence of vestibular dysfunction, and the age of onset of the retinitis pigmentosa. A total of 10 causal genes, 6 for USH1, 3 for USH …
Three clinical subtypes (USH1-3) are distinguishable based on the severity of the sensorineural hearing impairment, the presence or absence …
Cataract surgery in retinitis pigmentosa.
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A. Chatterjee S, et al. Indian J Ophthalmol. 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. Indian J Ophthalmol. 2021. PMID: 34146021 Free PMC article.
PURPOSE: The aim of this study was to evaluate visual outcomes of cataract surgery in patients with retinitis pigmentosa. METHODS: This retrospective case series includes a review of the medical records of all patients with retinitis pigmentosa undergo …
PURPOSE: The aim of this study was to evaluate visual outcomes of cataract surgery in patients with retinitis pigmentosa. METH …
Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.
Lo JE, Cheng CY, Yang CH, Yang CM, Chen YC, Huang YS, Chen PL, Chen TC. Lo JE, et al. Transl Vis Sci Technol. 2022 Jul 8;11(7):6. doi: 10.1167/tvst.11.7.6. Transl Vis Sci Technol. 2022. PMID: 35816039 Free PMC article.
PURPOSE: The purpose of this study was to investigate the genetic and clinical characteristics of eyes shut homolog (EYS)-associated retinitis pigmentosa (RP). METHODS: This was a retrospective cross-sectional observational study of 36 patients with EYS-assoc …
PURPOSE: The purpose of this study was to investigate the genetic and clinical characteristics of eyes shut homolog (EYS)-associated reti …
Longitudinal Microstructure Changes of the Retina and Choroid in Retinitis Pigmentosa.
Yoon CK, Bae K, Yu HG. Yoon CK, et al. Am J Ophthalmol. 2022 Sep;241:149-159. doi: 10.1016/j.ajo.2022.05.002. Epub 2022 May 9. Am J Ophthalmol. 2022. PMID: 35551907
PURPOSE: To investigate longitudinal changes in the retinal and choroidal microstructure of the macula in patients with retinitis pigmentosa (RP). DESIGN: Retrospective, observational cohort study. ...RPE atrophy and CVI reduction were observed at the …
PURPOSE: To investigate longitudinal changes in the retinal and choroidal microstructure of the macula in patients with retinitis …
A review of the immunologic findings observed in retinitis pigmentosa.
McMurtrey JJ, Tso MOM. McMurtrey JJ, et al. Surv Ophthalmol. 2018 Nov-Dec;63(6):769-781. doi: 10.1016/j.survophthal.2018.03.002. Epub 2018 Mar 16. Surv Ophthalmol. 2018. PMID: 29551596 Review.
Most patients suffering from retinitis pigmentosa (RP) inherit the disorder; however, the immune-pathologic features associated with this disease have yet to be extensively studied. ...Twenty-one percent to 51% of RP patients display antiretinal antibodies, whereas …
Most patients suffering from retinitis pigmentosa (RP) inherit the disorder; however, the immune-pathologic features associate …
Clinical characteristics of comorbid retinal dystrophies and primary angle closure disease.
Parameswarappa DC, Doctor MB, Natarajan R, Rani PK, Garudadri C, Jalali S, Senthil S. Parameswarappa DC, et al. Int Ophthalmol. 2022 Oct;42(10):3137-3144. doi: 10.1007/s10792-022-02313-6. Epub 2022 May 18. Int Ophthalmol. 2022. PMID: 35585370
The most common retinal dystrophy associated with PACD was retinitis pigmentosa (RP) followed by RP with retinoschisis. The hospital-based prevalence of PACD among all patients with RP and retinoschisis was 0.19% and 0.15% respectively. ...CONCLUSION: Retinitis …
The most common retinal dystrophy associated with PACD was retinitis pigmentosa (RP) followed by RP with retinoschisis. The ho …
RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features.
Nguyen XT, Talib M, van Schooneveld MJ, Brinks J, Ten Brink J, Florijn RJ, Wijnholds J, Verdijk RM, Bergen AA, Boon CJF. Nguyen XT, et al. Int J Mol Sci. 2020 Jan 28;21(3):835. doi: 10.3390/ijms21030835. Int J Mol Sci. 2020. PMID: 32012938 Free PMC article.
Additionally, the histopathology of the right eye from a patient with an end-stage cone-rod-dystrophy (CRD)/sector retinitis pigmentosa (RP) phenotype was examined. All RPGR mutations causing a CRD phenotype were situated in exon ORF15. ...Hyperautofluorescent rings …
Additionally, the histopathology of the right eye from a patient with an end-stage cone-rod-dystrophy (CRD)/sector retinitis pigme …
Retinitis pigmentosa in Usher syndrome in India: Electronic medical records driven big data analytics: Report III.
Parameswarappa DC, Das AV, Doctor MB, Natarajan R, Agarwal K, Jalali S. Parameswarappa DC, et al. Indian J Ophthalmol. 2022 Jul;70(7):2540-2545. doi: 10.4103/ijo.IJO_2272_21. Indian J Ophthalmol. 2022. PMID: 35791152 Free PMC article.
PURPOSE: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in patients with Usher syndrome (USH). METHODS: This is a cross-sectional observational hospital-based study including patients presenting between March 2 …
PURPOSE: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in patients with Ushe …
66 results