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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 …
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 …
Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies.
Sung YC, Yang CH, Yang CM, Lin CW, Huang DS, Huang YS, Hu FR, Chen PL, Chen TC. Sung YC, et al. Genes (Basel). 2020 Nov 27;11(12):1421. doi: 10.3390/genes11121421. Genes (Basel). 2020. PMID: 33261146 Free PMC article.
In this cohort, ABCA4-associated retinal degeneration presented as Stargardt disease 1 (STGD1, 62.16%), retinitis pigmentosa (32.43%), and cone-rod dystrophy (5.41%). STGD1 could be further divided into central and dispersed types. ...Forty-two ABCA4 variants were i …
In this cohort, ABCA4-associated retinal degeneration presented as Stargardt disease 1 (STGD1, 62.16%), retinitis pigmentosa ( …
Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.
Kierdaszuk B, Kaliszewska M, Rusecka J, Kosińska J, Bartnik E, Tońska K, Kamińska AM, Kostera-Pruszczyk A. Kierdaszuk B, et al. Genes (Basel). 2020 Dec 31;12(1):54. doi: 10.3390/genes12010054. Genes (Basel). 2020. PMID: 33396418 Free PMC article.
Clinical, electrophysiological, neuroradiological, and morphological data of 84 patients were analyzed. Genetic studies of mitochondrial DNA (mtDNA) were performed in all patients. ...
Clinical, electrophysiological, neuroradiological, and morphological data of 84 patients were analyzed. Genetic studies of mitochondr …
Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.
Burstedt M, Jonsson F, Köhn L, Burstedt M, Kivitalo M, Golovleva I. Burstedt M, et al. Acta Ophthalmol. 2013 Aug;91(5):437-44. doi: 10.1111/j.1755-3768.2012.02431.x. Epub 2012 May 2. Acta Ophthalmol. 2013. PMID: 22551409 Free article.
PURPOSE: To evaluate phenotypes caused by different RLBP1 mutations in autosomal recessive retinitis pigmentosa of Bothnia type. METHODS: Compound heterozygotes for mutations in the RLBP1 gene [c.677T>A]+[c.700C>T] (p.M226K+p.R234W), n = 10, aged 7-84 y …
PURPOSE: To evaluate phenotypes caused by different RLBP1 mutations in autosomal recessive retinitis pigmentosa of Bothnia typ …
Retinal optogenetic therapies: clinical criteria for candidacy.
Jacobson SG, Sumaroka A, Luo X, Cideciyan AV. Jacobson SG, et al. Clin Genet. 2013 Aug;84(2):175-82. doi: 10.1111/cge.12165. Epub 2013 May 13. Clin Genet. 2013. PMID: 23590195
Severe blinding retinal degenerative diseases have been without treatments that could improve vision until recently. Gene therapy has been in clinical trials for certain inherited retinopathies in which photoreceptors are retained despite severe visual loss. ...Measurement …
Severe blinding retinal degenerative diseases have been without treatments that could improve vision until recently. Gene therapy has …
Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy.
Florian A, Ludwig A, Stubbe-Dräger B, Boentert M, Young P, Waltenberger J, Rösch S, Sechtem U, Yilmaz A. Florian A, et al. J Cardiovasc Magn Reson. 2015 May 22;17(1):40. doi: 10.1186/s12968-015-0145-x. J Cardiovasc Magn Reson. 2015. PMID: 26001801 Free PMC article.

Compared to controls, MM patients showed significantly higher maximal wall thickness (10 3 vs. 8 2 mm, p = 0.005) and concentricity (LV mass to end-diastolic volume: 0.84 0.27 vs. 0.67 0.11, p < 0.0001) with frequent presence of non-ischemic LGE (30% vs. 0%, p = 0.001).

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Compared to controls, MM patients showed significantly higher maximal wall thickness (10 3 vs. 8 2 mm, p = 0.005) and concentricity (LV mass …