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Quoted phrase not found in phrase index: "Retinitis pigmentosa 93"
Page 1
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 …
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M. Georgiou M, et al. Ophthalmology. 2023 Apr;130(4):413-422. doi: 10.1016/j.ophtha.2022.11.015. Epub 2022 Nov 22. Ophthalmology. 2023. PMID: 36423731 Free PMC article.
Twenty-eight disease-causing variants were identified, with 20 not previously clinically characterized. Fifty-three patients (98.1%) presented with retinitis pigmentosa. The mean age of onset (range standard deviation [SD]) was 9.6 years (1-57 9.2 years). ...The mea …
Twenty-eight disease-causing variants were identified, with 20 not previously clinically characterized. Fifty-three patients (98.1%) present …
Correlation between neutrophil-to-lymphocyte ratio and clinical manifestations and complications of retinitis pigmentosa.
He M, Wu T, Zhang L, Ye W, Ma J, Zhao C, Liu J, Zhou J. He M, et al. Acta Ophthalmol. 2022 Feb;100(1):e278-e287. doi: 10.1111/aos.14880. Epub 2021 Jun 2. Acta Ophthalmol. 2022. PMID: 34080305 Free article.
PURPOSE: The role of inflammation in retinitis pigmentosa (RP) has been receiving additional attention. ...Analysis of receiver operating characteristic curves suggested that NLR > 1.36 could predict higher degrees (PSC area >3%, >P1) of PSC (p = 0.0 …
PURPOSE: The role of inflammation in retinitis pigmentosa (RP) has been receiving additional attention. ...Analysis of receive …
Classification of disease severity in retinitis pigmentosa.
Iftikhar M, Lemus M, Usmani B, Campochiaro PA, Sahel JA, Scholl HPN, Shah SMA. Iftikhar M, et al. Br J Ophthalmol. 2019 Nov;103(11):1595-1599. doi: 10.1136/bjophthalmol-2018-313669. Epub 2019 Jan 31. Br J Ophthalmol. 2019. PMID: 30705041
AIM: To develop a simple and easily applicable classification of disease severity in retinitis pigmentosa (RP). METHODS: This is a retrospective cross-sectional study. ...A scoring criterion was developed wherein each variable was assigned a score from 0 to 5 …
AIM: To develop a simple and easily applicable classification of disease severity in retinitis pigmentosa (RP). METHODS: This …
Readability, Content, and Accountability Assessment of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options.
Partin S, Westfall E, Sanda G, Branham K, Muir K, Bellcross C, Jain N. Partin S, et al. Ophthalmic Genet. 2023 Feb;44(1):43-48. doi: 10.1080/13816810.2022.2135113. Epub 2022 Oct 14. Ophthalmic Genet. 2023. PMID: 36239593
PURPOSE: New therapies for retinitis pigmentosa (RP) have led to patients desiring more information about their disease. ...The mean content score for RP treatment sites was 5.5 out of 16 points (SD = 3.7, 95% CI = 4.1-6.9). ...
PURPOSE: New therapies for retinitis pigmentosa (RP) have led to patients desiring more information about their disease. ...Th …
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 the eyes. …
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 …
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.
RESULTS: The ratio of male to female patients was close to 1:1 (441:438) and the age of onset was mainly under six. Most patients (93.5%) were diagnosed with moderate to severe deafness. Four hundred and twenty-eight patients had variants in a deafness gene, with a detecti …
RESULTS: The ratio of male to female patients was close to 1:1 (441:438) and the age of onset was mainly under six. Most patients (93 …
Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.
van Huet RA, Siemiatkowska AM, Özgül RK, Yücel D, Hoyng CB, Banin E, Blumenfeld A, Rotenstreich Y, Riemslag FC, den Hollander AI, Theelen T, Collin RW, van den Born LI, Klevering BJ. van Huet RA, et al. Acta Ophthalmol. 2015 Feb;93(1):83-94. doi: 10.1111/aos.12500. Epub 2014 Nov 11. Acta Ophthalmol. 2015. PMID: 25385675 Free article.
PURPOSE: Defects in MAK, encoding a protein localized to the photoreceptor connecting cilium, have recently been associated with autosomal recessive retinitis pigmentosa (RP). The aim of this study is to describe our detailed clinical observations in patients …
PURPOSE: Defects in MAK, encoding a protein localized to the photoreceptor connecting cilium, have recently been associated with autosomal r …
Accuracy of automated machine learning in classifying retinal pathologies from ultra-widefield pseudocolour fundus images.
Antaki F, Coussa RG, Kahwati G, Hammamji K, Sebag M, Duval R. Antaki F, et al. Br J Ophthalmol. 2023 Jan;107(1):90-95. doi: 10.1136/bjophthalmol-2021-319030. Epub 2021 Aug 3. Br J Ophthalmol. 2023. PMID: 34344669
This study assessed the discriminative performance of AutoML in differentiating retinal vein occlusion (RVO), retinitis pigmentosa (RP) and retinal detachment (RD) from normal fundi using ultra-widefield (UWF) pseudocolour fundus images. ...The multiclass AutoML mod …
This study assessed the discriminative performance of AutoML in differentiating retinal vein occlusion (RVO), retinitis pigmentosa …
Intravenous Infusion of Umbilical Cord Mesenchymal Stem Cells Maintains and Partially Improves Visual Function in Patients with Advanced Retinitis Pigmentosa.
Zhao T, Liang Q, Meng X, Duan P, Wang F, Li S, Liu Y, Yin ZQ. Zhao T, et al. Stem Cells Dev. 2020 Aug;29(16):1029-1037. doi: 10.1089/scd.2020.0037. Epub 2020 Jul 15. Stem Cells Dev. 2020. PMID: 32679004 Clinical Trial.
Retinitis pigmentosa (RP) is a hereditary retinal degeneration disease with no effective therapeutic approaches. ...The proportions of patients with improved or maintained BCVA were 96.9%, 95.3%, 93.8%, 95.4%, 90.6%, and 90.6% at the 1st, 2nd, 3rd, 6th, 9th, …
Retinitis pigmentosa (RP) is a hereditary retinal degeneration disease with no effective therapeutic approaches. ...The propor …
39 results