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Quoted phrase not found in phrase index: "Retinitis pigmentosa 46"
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 pigmentosa, …
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T. Ma J, et al. Hum Genomics. 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. Hum Genomics. 2023. PMID: 36597107 Free PMC article.
Pathogenic variants were detected in 98 genes and a number of these were recurrent within the cohort. However, many of the variants were rarely observed in the cohort. In accordance with the American College of Medical Genetics and Genomics, pathogenic, likely pathogenic a …
Pathogenic variants were detected in 98 genes and a number of these were recurrent within the cohort. However, many of the variants were rar …
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. ...Glaucoma was managed medic …
The most common retinal dystrophy associated with PACD was retinitis pigmentosa (RP) followed by RP with retinoschisis. The ho …
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R, Chan L, Oh JK, Cho A, Sparrow JR, Tsang SH. Jauregui R, et al. Sci Rep. 2020 Feb 25;10(1):3364. doi: 10.1038/s41598-020-60137-9. Sci Rep. 2020. PMID: 32098976 Free PMC article.
Retinitis pigmentosa (RP) is described as a bilateral disease with inter-eye symmetry that presents on short-wavelength fundus autofluorescence (SW-AF) imaging with hyperautofluorescent (hyperAF) rings with an ellipsoid shape and regular borders. ...We observed …
Retinitis pigmentosa (RP) is described as a bilateral disease with inter-eye symmetry that presents on short-wavelength fundus …
Microvascular quantitative metrics in retinitis pigmentosa using optical coherence tomography angiography.
Duch Hurtado M, Vidal Oliver L, Marín Lambies C, Salom Alonso D. Duch Hurtado M, et al. Arch Soc Esp Oftalmol (Engl Ed). 2023 May;98(5):270-275. doi: 10.1016/j.oftale.2023.04.004. Epub 2023 Apr 7. Arch Soc Esp Oftalmol (Engl Ed). 2023. PMID: 37031736
AIMS: To describe the changes in vessel density (VD) using optical coherence tomography angiography (OCTA) of the different sectors in the macular area between retinitis pigmentosa (RP) patients and controls. METHODS: Observational case-control study. ...VD w …
AIMS: To describe the changes in vessel density (VD) using optical coherence tomography angiography (OCTA) of the different sectors in the m …
Retinitis pigmentosa: clinical observations and correlations.
Pruett RC. Pruett RC. Trans Am Ophthalmol Soc. 1983;81:693-735. Trans Am Ophthalmol Soc. 1983. PMID: 6676982 Free PMC article.
This thesis presents the results of a study of 384 eyes of 192 patients with a mean age of 39.1 years who presented with typical retinitis pigmentosa. The major findings are outlined below, together with suggested hypotheses: Cataract was found in 46.4% of th …
This thesis presents the results of a study of 384 eyes of 192 patients with a mean age of 39.1 years who presented with typical retiniti …
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 …
Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.
Kobal N, Krašovec T, Šuštar M, Volk M, Peterlin B, Hawlina M, Fakin A. Kobal N, et al. Int J Mol Sci. 2021 Feb 21;22(4):2133. doi: 10.3390/ijms22042133. Int J Mol Sci. 2021. PMID: 33669941 Free PMC article.
Mutations in rhodopsin gene (RHO) are a frequent cause of retinitis pigmentosa (RP) and less often, congenital stationary night blindness (CSNB). ...The phenotypes were not associated with family, sex or age (Kruskal-Wallis, p > 0.05), however, cystoid macular ed …
Mutations in rhodopsin gene (RHO) are a frequent cause of retinitis pigmentosa (RP) and less often, congenital stationary nigh …
Quantitative analyses of factors related to anxiety and depression in patients with retinitis pigmentosa.
Sainohira M, Yamashita T, Terasaki H, Sonoda S, Miyata K, Murakami Y, Ikeda Y, Morimoto T, Endo T, Fujikado T, Kamo J, Sakamoto T. Sainohira M, et al. PLoS One. 2018 Apr 23;13(4):e0195983. doi: 10.1371/journal.pone.0195983. eCollection 2018. PLoS One. 2018. PMID: 29684094 Free PMC article.
The purpose of this study is to determine the factors related to anxiety and depression in patients with retinitis pigmentosa (RP). The status of anxiety and depression was determined in RP patients with the Hospital Anxiety and Depression Scale (HADS) questionnaire …
The purpose of this study is to determine the factors related to anxiety and depression in patients with retinitis pigmentosa …
Correlating optical coherence tomography biomarkers with visual acuity in nigerian retinitis pigmentosa patients.
Okonkwo ON, Hassan AO, Ogbedo EN, Akanbi T, Umeh V, Agweye CT. Okonkwo ON, et al. Niger J Clin Pract. 2022 Mar;25(3):267-272. doi: 10.4103/njcp.njcp_1312_21. Niger J Clin Pract. 2022. PMID: 35295047 Free article.
BACKGROUND: Spectral Domain Optical Coherence Tomography (SD-OCT) has been used for imaging retinitis pigmentosa (RP) eyes and provides useful information on microstructural changes. ...For the OCT biomarkers, a reduction in ONL and ELM occurred in 69% and 46 …
BACKGROUND: Spectral Domain Optical Coherence Tomography (SD-OCT) has been used for imaging retinitis pigmentosa (RP) eyes and …
81 results