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Quoted phrase not found in phrase index: "Retinitis pigmentosa 49"
Page 1
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M. Le Quesne Stabej P, et al. J Med Genet. 2012 Jan;49(1):27-36. doi: 10.1136/jmedgenet-2011-100468. Epub 2011 Dec 1. J Med Genet. 2012. PMID: 22135276 Free PMC article.
BACKGROUND: Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some cases, vestibular dysfunction. ...It is concluded that digenic inheritance does not make a significant contribution to Usher syndrome; the …
BACKGROUND: Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some …
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 …
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 …
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. ...RESULTS: Significant decreases (median [interquartile rang …
PURPOSE: To investigate longitudinal changes in the retinal and choroidal microstructure of the macula in patients with retinitis …
Characterizing Visual Fields in RPGR Related Retinitis Pigmentosa Using Octopus Static-Automated Perimetry.
Buckley TMW, Josan AS, Taylor LJ, Jolly JK, Cehajic-Kapetanovic J, MacLaren RE. Buckley TMW, et al. Transl Vis Sci Technol. 2022 May 2;11(5):15. doi: 10.1167/tvst.11.5.15. Transl Vis Sci Technol. 2022. PMID: 35576214 Free PMC article.
PURPOSE: Peripheral visual fields have not been as well defined by static automated perimetry as kinetic perimetry in RPGR-related retinitis pigmentosa. This study explores the pattern and sensitivities of peripheral visual fields, which may provide an important end …
PURPOSE: Peripheral visual fields have not been as well defined by static automated perimetry as kinetic perimetry in RPGR-related retini …
Structural disease progression in PDE6-associated autosomal recessive retinitis pigmentosa.
Takahashi VKL, Takiuti JT, Jauregui R, Lima LH, Tsang SH. Takahashi VKL, et al. Ophthalmic Genet. 2018 Oct;39(5):610-614. doi: 10.1080/13816810.2018.1509354. Epub 2018 Aug 28. Ophthalmic Genet. 2018. PMID: 30153077
BACKGROUND AND OBJECTIVE: To evaluate the progression of retinitis pigmentosa (RP) caused by mutations in either PDE6A or PDE6B by measuring the progressive constriction of the hyperautofluorescent ring and shortening of the ellipsoid zone (EZ)-line width. ...The me …
BACKGROUND AND OBJECTIVE: To evaluate the progression of retinitis pigmentosa (RP) caused by mutations in either PDE6A or PDE6 …
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 …
Prevalence of zonulopathy in primary angle closure disease.
Salimi A, Fanous A, Watt H, Abu-Nada M, Wang A, Harasymowycz P. Salimi A, et al. Clin Exp Ophthalmol. 2021 Dec;49(9):1018-1026. doi: 10.1111/ceo.13983. Epub 2021 Aug 31. Clin Exp Ophthalmol. 2021. PMID: 34382734 Free PMC article.
Those with risk factors for zonulopathy such as history of trauma, pseudoexfoliation syndrome, intraocular surgery, retinitis pigmentosa or connective tissue disorders were excluded. ...Among these eyes, capsular tension ring was used in 23 eyes (39.0%), six eyes (1 …
Those with risk factors for zonulopathy such as history of trauma, pseudoexfoliation syndrome, intraocular surgery, retinitis pigm …
Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.
Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Talsma HE, Florijn RJ, Ten Brink JB, Cremers FPM, Thiadens AAHJ, van den Born LI, Hoyng CB, Meester-Smoor MA, Bergen AA, Boon CJF. Talib M, et al. Acta Ophthalmol. 2021 May;99(3):e402-e414. doi: 10.1111/aos.14597. Epub 2021 Feb 2. Acta Ophthalmol. 2021. PMID: 33528094 Free PMC article.
Ten patients were from a genetic isolate (GI). RESULTS: Patients had retinitis pigmentosa (n = 19; GI and non-GI), cone-rod dystrophy (n = 2; GI) or macular dystrophy (n = 1; non-GI). Median age at first symptom onset was 3 years (range 0.8-49). Median decima …
Ten patients were from a genetic isolate (GI). RESULTS: Patients had retinitis pigmentosa (n = 19; GI and non-GI), cone-rod dy …
Methylome-wide association study of early life stressors and adult mental health.
Howard DM, Pain O, Arathimos R, Barbu MC, Amador C, Walker RM, Jermy B, Adams MJ, Deary IJ, Porteous D, Campbell A, Sullivan PF, Evans KL, Arseneault L, Wray NR, Meaney M, McIntosh AM, Lewis CM. Howard DM, et al. Hum Mol Genet. 2022 Feb 21;31(4):651-664. doi: 10.1093/hmg/ddab274. Hum Mol Genet. 2022. PMID: 34523677 Free PMC article.

A further two genes important to the development of sensory pathways (SOBP, Sine Oculis Binding Protein Homolog and RPGRIP1, Retinitis Pigmentosa GTPase Regulator Interacting Protein) were annotated to sites associated with low birth weight (P < 4.35 10-8). The e

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A further two genes important to the development of sensory pathways (SOBP, Sine Oculis Binding Protein Homolog and RPGRIP1, Retinitis …
67 results