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Quoted phrase not found in phrase index: "Retinitis pigmentosa 84"
Page 1
Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.
Dong L, He W, Zhang R, Ge Z, Wang YX, Zhou J, Xu J, Shao L, Wang Q, Yan Y, Xie Y, Fang L, Wang H, Wang Y, Zhu X, Wang J, Zhang C, Wang H, Wang Y, Chen R, Wan Q, Yang J, Zhou W, Li H, Yao X, Yang Z, Xiong J, Wang X, Huang Y, Chen Y, Wang Z, Rong C, Gao J, Zhang H, Wu S, Jonas JB, Wei WB. Dong L, et al. JAMA Netw Open. 2022 May 2;5(5):e229960. doi: 10.1001/jamanetworkopen.2022.9960. JAMA Netw Open. 2022. PMID: 35503220 Free PMC article.
MAIN OUTCOMES AND MEASURES: The performance of each classifier included sensitivity, specificity, accuracy, F1 score, and Cohen kappa score. RESULTS: In the prospective validation data set of 208 758 images collected from 110 784 individuals (median [range] age, 42 …
MAIN OUTCOMES AND MEASURES: The performance of each classifier included sensitivity, specificity, accuracy, F1 score, and Cohen kappa …
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Héon E, Bitner-Glindzicz M, Webster AR. Lenassi E, et al. Eur J Hum Genet. 2015 Oct;23(10):1318-27. doi: 10.1038/ejhg.2014.283. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649381 Free PMC article.
(Arg3719His); c.12295-3 T>A; and c.12575 G>A, p.(Arg4192His). An allelic hierarchy was observed in the discovery cohort and confirmed in the replication cohort. In nonsyndromic USH2A disease, retinopathy was consistent with retinitis pigmentosa and the …
(Arg3719His); c.12295-3 T>A; and c.12575 G>A, p.(Arg4192His). An allelic hierarchy was observed in the discovery cohort and con …
Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.
Birtel J, Gliem M, Oishi A, Müller PL, Herrmann P, Holz FG, Mangold E, Knapp M, Bolz HJ, Charbel Issa P. Birtel J, et al. Clin Exp Ophthalmol. 2019 Aug;47(6):779-786. doi: 10.1111/ceo.13516. Epub 2019 May 8. Clin Exp Ophthalmol. 2019. PMID: 30977268
IMPORTANCE: Uncommon characteristics in genetically unsolved retinitis pigmentosa (RP) patients may indicate an incorrect clinical diagnosis or as yet unknown genetic causes resulting in specific retinal phenotypes. ...Evidence for a particular inheritance pattern w …
IMPORTANCE: Uncommon characteristics in genetically unsolved retinitis pigmentosa (RP) patients may indicate an incorrect clin …
Evaluation of vision-related quality of life in retinitis pigmentosa patients with low vision.
Altinbay D, Taskin I. Altinbay D, et al. Jpn J Ophthalmol. 2021 Nov;65(6):777-785. doi: 10.1007/s10384-021-00875-z. Epub 2021 Oct 4. Jpn J Ophthalmol. 2021. PMID: 34606034
PURPOSE: To investigate the effect of sociodemographic and clinical characteristics on vision-related quality of life (QoL) in retinitis pigmentosa (RP) patients with low vision. STUDY DESIGN: Retrospective. ...The mean total score and the social functioning …
PURPOSE: To investigate the effect of sociodemographic and clinical characteristics on vision-related quality of life (QoL) in retinitis …
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. ...RESULTS: The AutoML model …
This study assessed the discriminative performance of AutoML in differentiating retinal vein occlusion (RVO), retinitis pigmentosa …
Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.
Cehajic-Kapetanovic J, McClements ME, Whitfield J, Shanks M, Clouston P, MacLaren RE. Cehajic-Kapetanovic J, et al. JAMA Ophthalmol. 2020 Nov 1;138(11):1151-1158. doi: 10.1001/jamaophthalmol.2020.3634. JAMA Ophthalmol. 2020. PMID: 32970112 Free PMC article.
IMPORTANCE: Pathogenic variants in retinitis pigmentosa GTPase regulator (RPGR) gene typically lead to a severe form of X-linked retinitis pigmentosa, which is associated with early severe vision loss. ...MAIN OUTCOMES AND MEASURES: Data were collected …
IMPORTANCE: Pathogenic variants in retinitis pigmentosa GTPase regulator (RPGR) gene typically lead to a severe form of X-link …
Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.
Pierrache LHM, Messchaert M, Thiadens AAHJ, Haer-Wigman L, de Jong-Hesse Y, van Zelst-Stams WAG, Collin RWJ, Klaver CCW, van den Born LI. Pierrache LHM, et al. Invest Ophthalmol Vis Sci. 2019 May 1;60(6):2049-2063. doi: 10.1167/iovs.18-25531. Invest Ophthalmol Vis Sci. 2019. PMID: 31074760
METHODS: Multiethnic cohort study (N = 30) with biallelic EYS variants from a clinical IRD database (retinitis pigmentosa [RP], N = 27; cone-rod dystrophy [CRD], N = 1; and macular dystrophy, N = 2). ...CONCLUSIONS: We report on EYS-associated macular dystrophy, ext …
METHODS: Multiethnic cohort study (N = 30) with biallelic EYS variants from a clinical IRD database (retinitis pigmentosa [RP] …
Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years.
Cideciyan AV, Charng J, Roman AJ, Sheplock R, Garafalo AV, Heon E, Jacobson SG. Cideciyan AV, et al. Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4558-4566. doi: 10.1167/iovs.18-24931. Invest Ophthalmol Vis Sci. 2018. PMID: 30208424
PURPOSE: To determine the progression rate and the variability of rod and cone sensitivities in patients with X-linked retinitis pigmentosa (XLRP) caused by mutations in ORF15-RPGR. METHODS: ORF15-RPGR-XLRP patients (n = 15) were studied prospectively over 2 years w …
PURPOSE: To determine the progression rate and the variability of rod and cone sensitivities in patients with X-linked retinitis p …
Electroretinogram assessment of children with sensorineural hearing loss: implications for screening.
West SK, Hindocha M, Hogg CR, Holder GE, Moore AT, Reddy MA. West SK, et al. J AAPOS. 2015 Oct;19(5):450-4. doi: 10.1016/j.jaapos.2015.08.001. J AAPOS. 2015. PMID: 26486028
Patients were included if they had been referred with SNHL by an audiological medicine consultant and the primary indication for electrodiagnostic testing was possible Usher syndrome. RESULTS: A total of 84 cases met inclusion criteria of which 13 (15%) had ERG findings sh …
Patients were included if they had been referred with SNHL by an audiological medicine consultant and the primary indication for electrodiag …
Effect of lens capsular tension ring on preventing capsular contraction syndrome in the surgery of retinitis pigmentosa combined with cataract: Retrospective case series.
Chen CX, Wang JD, Zhang JS, Xiong Y, Li J, Chen SY, Sun XL, Liu ZY, Mayinuer Y, Wan XH. Chen CX, et al. Int J Clin Pract. 2021 Aug;75(8):e14272. doi: 10.1111/ijcp.14272. Epub 2021 May 17. Int J Clin Pract. 2021. PMID: 33908134
PURPOSE: To observe the effect of phacoemulsification and intraocular lens (IOL) implantation with or without lens capsular tension ring (CTR) on retinitis pigmentosa (RP) combined with cataract patients. DESIGN: Retrospective cases series study. METHODS: Six …
PURPOSE: To observe the effect of phacoemulsification and intraocular lens (IOL) implantation with or without lens capsular tension r …
31 results