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Treatment of ocular disorders by gene therapy.
Solinís MÁ, del Pozo-Rodríguez A, Apaolaza PS, Rodríguez-Gascón A. Solinís MÁ, et al. Eur J Pharm Biopharm. 2015 Sep;95(Pt B):331-42. doi: 10.1016/j.ejpb.2014.12.022. Epub 2014 Dec 20. Eur J Pharm Biopharm. 2015. PMID: 25536112 Review.
Gene therapy to treat ocular disorders is still starting, and current therapies are primarily experimental, with most human clinical trials still in research state, although beginning to show encouraging results. ...The most promising results have been obtained in c …
Gene therapy to treat ocular disorders is still starting, and current therapies are primarily experimental, with most human cl …
Next-generation genetic testing for retinitis pigmentosa.
Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H. Neveling K, et al. Hum Mutat. 2012 Jun;33(6):963-72. doi: 10.1002/humu.22045. Epub 2012 Mar 19. Hum Mutat. 2012. PMID: 22334370 Free PMC article.
Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogeneity, with 52 causative genes known to date. ...
Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogene …
Management of retinitis pigmentosa by Wharton's jelly derived mesenchymal stem cells: preliminary clinical results.
Özmert E, Arslan U. Özmert E, et al. Stem Cell Res Ther. 2020 Jan 13;11(1):25. doi: 10.1186/s13287-020-1549-6. Stem Cell Res Ther. 2020. PMID: 31931872 Free PMC article.
PURPOSE: The aim of this study is to determine if umbilical cord Wharton's jelly derived mesenchymal stem cells implanted in sub-tenon space have beneficial effects on visual functions in retinitis pigmentosa patients by reactivating the degenerated photoreceptors i …
PURPOSE: The aim of this study is to determine if umbilical cord Wharton's jelly derived mesenchymal stem cells implanted in sub-tenon space …
Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa.
Magliyah M, Alshamrani AA, Schatz P, Taskintuna I, Alzahrani Y, Nowilaty SR. Magliyah M, et al. Ophthalmic Genet. 2021 Apr;42(2):178-185. doi: 10.1080/13816810.2020.1867754. Epub 2021 Jan 13. Ophthalmic Genet. 2021. PMID: 33441055
Background: Coats-like retinal vasculopathy in retinitis pigmentosa (RP) is rare. This study describes its clinical spectrum, management outcomes and genetic associations in patients with autosomal recessive RP (arRP).Materials and methods: Retrospective review of o …
Background: Coats-like retinal vasculopathy in retinitis pigmentosa (RP) is rare. This study describes its clinical spectrum, …
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
Wang Y, Wang J, Jiang Y, Zhu D, Ouyang J, Yi Z, Li S, Jia X, Xiao X, Sun W, Wang P, Zhang Q. Wang Y, et al. Int J Mol Sci. 2023 Apr 4;24(7):6728. doi: 10.3390/ijms24076728. Int J Mol Sci. 2023. PMID: 37047703 Free PMC article. Review.
In our cohort, the most frequent variant was p.G305Afs*19, accounting for 33.3% (5/15) of alleles, in contrast to the literature, where p.R172G (11.6%, 119/1028) was the most common variant. Nine in-house families (63.8%) were diagnosed with retinitis pigmentosa …
In our cohort, the most frequent variant was p.G305Afs*19, accounting for 33.3% (5/15) of alleles, in contrast to the literature, whe …
Persistent Urogenital Sinus: Diagnostic Imaging for Clinical Management. What Does the Radiologist Need to Know?
Valentini AL, Giuliani M, Gui B, Laino ME, Zecchi V, Rodolfino E, Ninivaggi V, Manzoni C, Bonomo L. Valentini AL, et al. Am J Perinatol. 2016 Apr;33(5):425-32. doi: 10.1055/s-0035-1565996. Epub 2015 Oct 21. Am J Perinatol. 2016. PMID: 26489064 Review.
It may be a part of a complex syndrome and can be more often associated with congenital malformations affecting the genitourinary tract system (33%) such as intersex, rectovaginal communication, bladder agenesis, absence of vagina, and hydrocolpos. ...
It may be a part of a complex syndrome and can be more often associated with congenital malformations affecting the genitourinary tract syst …
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.
PURPOSE: The aim of this study was to analyse 69 Chinese patients with USH2A mutations and to assess the genotype-phenotype correlation. METHODS: All 36 Usher syndrome type IIA patients and 33 nonsyndromic RP (retinitis pigmentosa) patients underwent clinical …
PURPOSE: The aim of this study was to analyse 69 Chinese patients with USH2A mutations and to assess the genotype-phenotype correlation. MET …
Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.
Ivanova ME, Trubilin VN, Atarshchikov DS, Demchinsky AM, Strelnikov VV, Tanas AS, Orlova OM, Machalov AS, Overchenko KV, Markova TV, Golenkova DM, Anoshkin KI, Volodin IV, Zaletaev DV, Pulin AA, Nadelyaeva II, Kalinkin AI, Barh D. Ivanova ME, et al. Ophthalmic Genet. 2018 Dec;39(6):706-713. doi: 10.1080/13816810.2018.1532527. Epub 2018 Oct 25. Ophthalmic Genet. 2018. PMID: 30358468
RESULTS: Around 53.57% and 39.28% patients had USH1 and USH2, respectively; 17.85% cases (n = 5/28) had no known mutation. Eleven (73.33%) subjects showed variations in USH1 associated genes MYO7A (72.72%), CDH23 (9.09%), PCDH15 (9.09%), and USH1C (9.09%). ...These seven p …
RESULTS: Around 53.57% and 39.28% patients had USH1 and USH2, respectively; 17.85% cases (n = 5/28) had no known mutation. Eleven (73.33 …
Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C. Barisic I, et al. Eur J Hum Genet. 2015 Jun;23(6):746-52. doi: 10.1038/ejhg.2014.174. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182137 Free PMC article.
There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies …
There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In additio …
X-linked retinitis pigmentosa: functional phenotype of an RP2 genotype.
Jacobson SG, Roman AJ, Cideciyan AV, Robey MG, Iwata T, Inana G. Jacobson SG, et al. Invest Ophthalmol Vis Sci. 1992 Dec;33(13):3481-92. Invest Ophthalmol Vis Sci. 1992. PMID: 1464493
Rod- and cone-mediated function was studied with psychophysics and electroretinography in members of an X-linked retinitis pigmentosa pedigree with the RP2 genotype. An asymptomatic hemizygote with an early stage of the disease had cone dysfunction in the mid-periph …
Rod- and cone-mediated function was studied with psychophysics and electroretinography in members of an X-linked retinitis pigment …
16 results