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Quoted phrase not found in phrase index: "Retinitis pigmentosa 64"
Page 1
4-Hydroxybutyric aciduria.
Rahbeeni Z, Ozand PT, Rashed M, Gascon GG, al Nasser M, al Odaib A, Amoudi M, Nester M, al Garawi S, Brismar J. Rahbeeni Z, et al. Brain Dev. 1994 Nov;16 Suppl:64-71. doi: 10.1016/0387-7604(94)90098-1. Brain Dev. 1994. PMID: 7726383
All infants presented with severe global delay and severe hypotonia, and all patients had seizure disorder. Eye findings included optic atrophy in two patients, and retinitis pigmentosa in one. Three patients had choreoathetosis, two had myoclonus and one had severe …
All infants presented with severe global delay and severe hypotonia, and all patients had seizure disorder. Eye findings included optic atro …
Association of retinitis pigmentosa and advanced keratoconus in siblings.
Zemba M, Zaharia AC, Dumitrescu OM. Zemba M, et al. Rom J Ophthalmol. 2020 Jul-Sep;64(3):313-321. Rom J Ophthalmol. 2020. PMID: 33367168 Free PMC article.
The aim of the article was to present the rare association of retinitis pigmentosa and bilateral keratoconus in two brothers, one of whom developed corneal hydrops bilaterally, within a short period of time. ...However, molecular genetics may someday provide new the …
The aim of the article was to present the rare association of retinitis pigmentosa and bilateral keratoconus in two brothers, …
Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.
Tsutsui S, Murakami Y, Fujiwara K, Koyanagi Y, Akiyama M, Takeda A, Ikeda Y, Sonoda KH. Tsutsui S, et al. Jpn J Ophthalmol. 2024 Jan;68(1):1-11. doi: 10.1007/s10384-023-01036-0. Epub 2023 Dec 9. Jpn J Ophthalmol. 2024. PMID: 38070066
PURPOSE: To report the genotypes and clinical features of RHO-associated retinitis pigmentosa (RHO-RP) in the Kyushu region of Japan. STUDY DESIGN: Retrospective, single-center study. ...[Pro347Leu] variant showed a more severe phenotype, and variants causing sector …
PURPOSE: To report the genotypes and clinical features of RHO-associated retinitis pigmentosa (RHO-RP) in the Kyushu region of …
Metabolic Long-Term Monitoring of Transcorneal Electrical Stimulation in Retinitis Pigmentosa.
Meral N, Zabek O, Camenzind Zuche H, Müller U, Prétot D, Rickmann A, Scholl HPN, Della Volpe Waizel M. Meral N, et al. Ophthalmic Res. 2022;65(1):52-59. doi: 10.1159/000519998. Epub 2021 Oct 4. Ophthalmic Res. 2022. PMID: 34607326 Free article.
INTRODUCTION: Transcorneal electrical stimulation (TES) is a new therapeutical approach for retinitis pigmentosa (RP). With progression of RP, degeneration of photoreceptors results in lower oxygen consumption of the retina. ...
INTRODUCTION: Transcorneal electrical stimulation (TES) is a new therapeutical approach for retinitis pigmentosa (RP). With pr …
Long-term Outcomes of Cataract Surgery in Patients with Retinitis Pigmentosa.
Nakamura S, Fujiwara K, Yoshida N, Murakami Y, Shimokawa S, Koyanagi Y, Ikeda Y, Sonoda KH. Nakamura S, et al. Ophthalmol Retina. 2022 Apr;6(4):268-272. doi: 10.1016/j.oret.2021.12.010. Epub 2021 Dec 16. Ophthalmol Retina. 2022. PMID: 34923176
PURPOSE: To investigate the long-term outcomes of cataract surgery in patients with retinitis pigmentosa (RP). DESIGN: Retrospective, observational study. ...The preoperative finding of preserved foveal EZ was associated with a better visual prognosis, sugges …
PURPOSE: To investigate the long-term outcomes of cataract surgery in patients with retinitis pigmentosa (RP). DESIGN: Retrosp …
Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants.
Ueno S, Koyanagi Y, Kominami T, Ito Y, Kawano K, Nishiguchi KM, Rivolta C, Nakazawa T, Sonoda KH, Terasaki H. Ueno S, et al. Jpn J Ophthalmol. 2020 Sep;64(5):485-496. doi: 10.1007/s10384-020-00752-1. Epub 2020 Jul 6. Jpn J Ophthalmol. 2020. PMID: 32627106
PURPOSE: To report the clinical course and high resolution images of autosomal recessive retinitis pigmentosa (RP) associated with a variant of the RP1 gene (c.4052_4053ins328/p.Tyr1352Alafs*9; m1), a high frequency founder variant in Japanese RP patients. .. …
PURPOSE: To report the clinical course and high resolution images of autosomal recessive retinitis pigmentosa (RP) asso …
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
Saudubray JM, Martin D, de Lonlay P, Touati G, Poggi-Travert F, Bonnet D, Jouvet P, Boutron M, Slama A, Vianey-Saban C, Bonnefont JP, Rabier D, Kamoun P, Brivet M. Saudubray JM, et al. J Inherit Metab Dis. 1999 Jun;22(4):488-502. doi: 10.1023/a:1005556207210. J Inherit Metab Dis. 1999. PMID: 10407781 Review.
Chronic neurologic presentation was rare, except in LCHAD deficiency (retinitis pigmentosa and peripheral neuropathy). Renal presentation (tubulopathy) and transient renal failure were observed in 27% of patients. ...The long-term dietary therapy aims to prevent per …
Chronic neurologic presentation was rare, except in LCHAD deficiency (retinitis pigmentosa and peripheral neuropathy). Renal p …
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. ...CONCLU …
BACKGROUND AND OBJECTIVE: To evaluate the progression of retinitis pigmentosa (RP) caused by mutations in either PDE6A or PDE6 …
Characterization of Visual Function, Interocular Variability and Progression Using Static Perimetry-Derived Metrics in RPGR-Associated Retinopathy.
Tee JJL, Yang Y, Kalitzeos A, Webster A, Bainbridge J, Weleber RG, Michaelides M. Tee JJL, et al. Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2422-2436. doi: 10.1167/iovs.17-23739. Invest Ophthalmol Vis Sci. 2018. PMID: 29847648 Free PMC article.
PURPOSE: To characterize bilateral visual function, interocular variability and progression by using static perimetry-derived volumetric and pointwise metrics in subjects with retinitis pigmentosa associated with mutations in the retinitis pigmentosa G …
PURPOSE: To characterize bilateral visual function, interocular variability and progression by using static perimetry-derived volumetric and …
45 results