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Page 1
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.
In accordance with the American College of Medical Genetics and Genomics, pathogenic, likely pathogenic and variants of uncertain significance accounted for 34.3%, 19.3% and 46.4% of all detected variants, respectively. The most common genes included GJB2, SLC26A4, MYO15A, …
In accordance with the American College of Medical Genetics and Genomics, pathogenic, likely pathogenic and variants of uncertain significan …
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 …
Management of Retinitis Pigmentosa via Platelet-Rich Plasma or Combination with Electromagnetic Stimulation: Retrospective Analysis of 1-Year Results.
Arslan U, Özmert E. Arslan U, et al. Adv Ther. 2020 May;37(5):2390-2412. doi: 10.1007/s12325-020-01308-y. Epub 2020 Apr 18. Adv Ther. 2020. PMID: 32303913
PURPOSE: To investigate whether the natural progression rate of retinitis pigmentosa can be decreased by subtenon autologous platelet-rich plasma application alone or combination with retinal electromagnetic stimulation. METHODS: The study includes retrospective ana …
PURPOSE: To investigate whether the natural progression rate of retinitis pigmentosa can be decreased by subtenon autologous p …
Correlation between Genotype and Phenotype in 69 Chinese Patients with USH2A Mutations: A comparative study of the patients with Usher Syndrome and Nonsyndromic Retinitis Pigmentosa.
Meng X, Liu X, Li Y, Guo T, Yang L. Meng X, et al. Acta Ophthalmol. 2021 Jun;99(4):e447-e460. doi: 10.1111/aos.14626. Epub 2020 Oct 29. Acta Ophthalmol. 2021. PMID: 33124170 Free article.
METHODS: All 36 Usher syndrome type IIA patients and 33 nonsyndromic RP (retinitis pigmentosa) patients underwent clinical examinations. Eye examinations included best-corrected visual acuity, slit-lamp biomicroscopy, fundus examination with dilated pupils, fundus f …
METHODS: All 36 Usher syndrome type IIA patients and 33 nonsyndromic RP (retinitis pigmentosa) patients underwent clinical exa …
Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.
Mallmann MR, Reutter H, Mack-Detlefsen B, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U. Mallmann MR, et al. Fetal Diagn Ther. 2019;45(1):62-68. doi: 10.1159/000486781. Epub 2018 Feb 23. Fetal Diagn Ther. 2019. PMID: 29478043
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
Birtel J, Gliem M, Mangold E, Müller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, Bolz HJ, Charbel Issa P. Birtel J, et al. PLoS One. 2018 Dec 13;13(12):e0207958. doi: 10.1371/journal.pone.0207958. eCollection 2018. PLoS One. 2018. PMID: 30543658 Free PMC article.
Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal dystrophy and visual impairment mainly with onset in infancy or adolescence. ...Overall, 110 different mutations distributed across 30 different genes were detected, and 46 …
Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal dystrophy and visual impairment mainly w …
Etiology, pathogenesis, and experimental treatment of retinitis pigmentosa.
Baumgartner WA. Baumgartner WA. Med Hypotheses. 2000 May;54(5):814-24. doi: 10.1054/mehy.1999.0957. Med Hypotheses. 2000. PMID: 10859693
The paper provides an interdisciplinary evaluation of the etiology, pathogenesis, and experimental treatments of retinitis pigmentosa (RP). It addresses a 10-year controversy concerning the rate of progression of RP. ...
The paper provides an interdisciplinary evaluation of the etiology, pathogenesis, and experimental treatments of retinitis pigment …
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Galbis-Martínez L, Blanco-Kelly F, García-García G, Ávila-Fernández A, Jaijo T, Fuster-García C, Perea-Romero I, Zurita-Muñoz O, Jimenez-Rolando B, Carreño E, García-Sandoval B, Millán JM, Ayuso C. Galbis-Martínez L, et al. Acta Ophthalmol. 2021 Dec;99(8):922-930. doi: 10.1111/aos.14795. Epub 2021 Feb 11. Acta Ophthalmol. 2021. PMID: 33576163 Free PMC article.
PURPOSE: We aimed to establish correlations between the clinical features of a cohort of Usher syndrome (USH) patients with pathogenic variants in MYO7A, type of pathogenic variant, and location on the protein domain. METHODS: Sixty-two USH patients from 46 families with b …
PURPOSE: We aimed to establish correlations between the clinical features of a cohort of Usher syndrome (USH) patients with pathogenic varia …
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
Coussa RG, Chakarova C, Ajlan R, Taha M, Kavalec C, Gomolin J, Khan A, Lopez I, Ren H, Waseem N, Kamenarova K, Bhattacharya SS, Koenekoop RK. Coussa RG, et al. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8297-305. doi: 10.1167/iovs.15-17104. Invest Ophthalmol Vis Sci. 2015. PMID: 26720483 Free PMC article.
PURPOSE: The French Canadian population of Quebec is a unique, well-known founder population with religious, linguistic, and geographic isolation. The genetics of retinitis pigmentosa (RP) in Quebec is not well studied thus far. The purpose of our study was to estab …
PURPOSE: The French Canadian population of Quebec is a unique, well-known founder population with religious, linguistic, and geographic isol …
Efficacy of carbonic anhydrase inhibitors in management of cystoid macular edema in retinitis pigmentosa: A meta-analysis.
Huang Q, Chen R, Lin X, Xiang Z. Huang Q, et al. PLoS One. 2017 Oct 12;12(10):e0186180. doi: 10.1371/journal.pone.0186180. eCollection 2017. PLoS One. 2017. PMID: 29023491 Free PMC article.
BACKGROUND: Carbonic anhydrase inhibitors (CAI) are often used in the treatment of cystoid macular edema (CME) in retinitis pigmentosa (RP) patients. The aim of this meta-analysis is to gain a better understanding of the overall efficacy of CAI treatment. ...The com …
BACKGROUND: Carbonic anhydrase inhibitors (CAI) are often used in the treatment of cystoid macular edema (CME) in retinitis pigmen …
13 results