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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. ...CONCLUSION: Retinitis …
The most common retinal dystrophy associated with PACD was retinitis pigmentosa (RP) followed by RP with retinoschisis. The ho …
CRISPRi-Mediated Treatment of Dominant Rhodopsin-Associated Retinitis Pigmentosa.
Burnight ER, Wiley LA, Mullin NK, Adur MK, Lang MJ, Cranston CM, Jiao C, Russell SR, Sohn EH, Han IC, Ross JW, Stone EM, Mullins RF, Tucker BA. Burnight ER, et al. CRISPR J. 2023 Dec;6(6):502-513. doi: 10.1089/crispr.2023.0039. CRISPR J. 2023. PMID: 38108516
Rhodopsin (RHO) mutations such as Pro23His are the leading cause of dominantly inherited retinitis pigmentosa in North America. As with other dominant retinal dystrophies, these mutations lead to production of a toxic protein product, and treatment will require knoc …
Rhodopsin (RHO) mutations such as Pro23His are the leading cause of dominantly inherited retinitis pigmentosa in North America …
Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alstrom syndrome.
Dassie F, Lorusso R, Benavides-Varela S, Milan G, Favaretto F, Callus E, Cagnin S, Reggiani F, Minervini G, Tosatto S, Vettor R, Semenza C, Maffei P. Dassie F, et al. Am J Med Genet A. 2021 Mar;185(3):732-742. doi: 10.1002/ajmg.a.62029. Epub 2021 Jan 7. Am J Med Genet A. 2021. PMID: 33410256
In particular, 53% of patients showed difficulties in the auditory working memory test. We found ideomotor and buccofacial apraxia in 74% of patients. "Mild phenotype" patients performed better on auditory working memory and ideomotor apraxia test than "typical phenotype" …
In particular, 53% of patients showed difficulties in the auditory working memory test. We found ideomotor and buccofacial apraxia in 74 …
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. ...
PURPOSE: To report the genotypes and clinical features of RHO-associated retinitis pigmentosa (RHO-RP) in the Kyushu region of …
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.
METHODS: In this prospective cross-sectional study, 22 patients with genetically confirmed CRB1-RD (aged 6-74 years), and who had a decimal best-corrected visual acuity (BCVA) 0.05 at the last visit, were studied clinically with ETDRS BCVA, corneal topography, spectral-dom …
METHODS: In this prospective cross-sectional study, 22 patients with genetically confirmed CRB1-RD (aged 6-74 years), and who had a d …
Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): further linkage data, heterogeneity testing, and risk estimation.
Clayton JF, Wright AF, Jay M, McKeown CM, Dempster M, Jay BS, Bird AC, Bhattacharya SS. Clayton JF, et al. Hum Genet. 1986 Oct;74(2):168-71. doi: 10.1007/BF00282083. Hum Genet. 1986. PMID: 2876947
Further linkage data relating X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28) is presented in this paper. ...
Further linkage data relating X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28) is presented in this paper. ...
Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome.
Steffann J, Gigarel N, Corcos J, Bonnière M, Encha-Razavi F, Sinico M, Prevot S, Dumez Y, Yamgnane A, Frydman R, Munnich A, Bonnefont JP. Steffann J, et al. J Med Genet. 2007 Oct;44(10):664-9. doi: 10.1136/jmg.2006.048553. Epub 2007 Jun 1. J Med Genet. 2007. PMID: 17545557 Free PMC article.
BACKGROUND: Mitochondrial DNA (mtDNA) mutations cause a wide range of serious genetic diseases with maternal inheritance. Because of the high transmission risk and the absence of therapy in these disorders, at-risk couples often ask for prenatal diagnosis (PND). ...METHODS …
BACKGROUND: Mitochondrial DNA (mtDNA) mutations cause a wide range of serious genetic diseases with maternal inheritance. Because of the hig …
An evaluation of genetic carriers of Usher's syndrome.
Holland MG, Cambie E, Kloepfer W. Holland MG, et al. Am J Ophthalmol. 1972 Nov;74(5):940-7. doi: 10.1016/0002-9394(72)91215-9. Am J Ophthalmol. 1972. PMID: 4539460 No abstract available.