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Quoted phrase not found in phrase index: "Retinitis pigmentosa 40"
Page 1
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ. Ganetzky RD, et al. Hum Mutat. 2019 May;40(5):499-515. doi: 10.1002/humu.23723. Epub 2019 Mar 4. Hum Mutat. 2019. PMID: 30763462 Free PMC article. Review.
The most common findings were reduced ATP synthesis rate, preserved ATP hydrolysis capacity, and abnormally increased mitochondrial membrane potential. However, no single biochemical feature was universally observed. Extensive heterogeneity exists among both clinical and b …
The most common findings were reduced ATP synthesis rate, preserved ATP hydrolysis capacity, and abnormally increased mitochondrial membrane …
Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK. Heath Jeffery RC, et al. Ophthalmic Genet. 2023 Aug;44(4):352-360. doi: 10.1080/13816810.2023.2196338. Epub 2023 Apr 4. Ophthalmic Genet. 2023. PMID: 37013444
BACKGROUND: To establish the proportion of patients with retinitis pigmentosa (RP) meeting the Australian fitness to drive (FTD) visual standards. ...BEVF testing is essential in the assessment of RP patients who are still driving. Phenotype and genotype predicto …
BACKGROUND: To establish the proportion of patients with retinitis pigmentosa (RP) meeting the Australian fitness to drive (FT …
Dominant ARL3-related retinitis pigmentosa.
Holtan JP, Teigen K, Aukrust I, Bragadóttir R, Houge G. Holtan JP, et al. Ophthalmic Genet. 2019 Apr;40(2):124-128. doi: 10.1080/13816810.2019.1586965. Epub 2019 Apr 1. Ophthalmic Genet. 2019. PMID: 30932721
PURPOSE: To clinically and genetically characterise a second family with dominant ARL3-related retinitis pigmentosa due to a specific ARL3 missense variant, p.(Tyr90Cys). ...Now the questionmark can be removed, and ARL3 should be added to the list of genes that may …
PURPOSE: To clinically and genetically characterise a second family with dominant ARL3-related retinitis pigmentosa due to a s …
Prediction of visual impairment in retinitis pigmentosa using deep learning and multimodal fundus images.
Liu TYA, Ling C, Hahn L, Jones CK, Boon CJ, Singh MS. Liu TYA, et al. Br J Ophthalmol. 2023 Oct;107(10):1484-1489. doi: 10.1136/bjo-2021-320897. Epub 2022 Jul 27. Br J Ophthalmol. 2023. PMID: 35896367 Free PMC article.
BACKGROUND: The efficiency of clinical trials for retinitis pigmentosa (RP) treatment is limited by the screening burden and lack of reliable surrogate markers for functional end points. ...RESULTS: In internal testing (JHU dataset, 2569 images, 462 eyes, 231 patien …
BACKGROUND: The efficiency of clinical trials for retinitis pigmentosa (RP) treatment is limited by the screening burden and l …
Morphological and functional involvement of the inner retina in retinitis pigmentosa.
Arrigo A, Aragona E, Perra C, Saladino A, Amato A, Bianco L, Pina A, Basile G, Bandello F, Battaglia Parodi M. Arrigo A, et al. Eye (Lond). 2023 May;37(7):1424-1431. doi: 10.1038/s41433-022-02139-7. Epub 2022 Jun 29. Eye (Lond). 2023. PMID: 35768721 Free PMC article.
BACKGROUND: To investigate the morphological retinal parameters associated with retinal sensitivity status in retinitis pigmentosa (RP) through a quantitative multimodal imaging approach. ...Quantitative parameters included the thickness of each retinal and choroida …
BACKGROUND: To investigate the morphological retinal parameters associated with retinal sensitivity status in retinitis pigmentosa …
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. ...Macular complications such as epiretinal membrane and cystoid macular edema wer …
PURPOSE: To report the genotypes and clinical features of RHO-associated retinitis pigmentosa (RHO-RP) in the Kyushu region of …
Longitudinal Microstructure Changes of the Retina and Choroid in Retinitis Pigmentosa.
Yoon CK, Bae K, Yu HG. Yoon CK, et al. Am J Ophthalmol. 2022 Sep;241:149-159. doi: 10.1016/j.ajo.2022.05.002. Epub 2022 May 9. Am J Ophthalmol. 2022. PMID: 35551907
PURPOSE: To investigate longitudinal changes in the retinal and choroidal microstructure of the macula in patients with retinitis pigmentosa (RP). DESIGN: Retrospective, observational cohort study. ...RPE atrophy and CVI reduction were observed at the …
PURPOSE: To investigate longitudinal changes in the retinal and choroidal microstructure of the macula in patients with retinitis …
Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
Kim DG, Joo K, Han J, Choi M, Kim SW, Park KH, Park SJ, Lee CS, Byeon SH, Woo SJ. Kim DG, et al. Genes (Basel). 2023 May 8;14(5):1057. doi: 10.3390/genes14051057. Genes (Basel). 2023. PMID: 37239417 Free PMC article.
Six patients with cone-rod dystrophy (CORD), two with macular dystrophy (MD), two with Leber congenital amaurosis (LCA), and one with retinitis pigmentosa (RP) were included. One patient (9.1%) had autosomal recessive inheritance, and the other ten patients (90.9%) …
Six patients with cone-rod dystrophy (CORD), two with macular dystrophy (MD), two with Leber congenital amaurosis (LCA), and one with ret …
Quality of Life and Economic Impacts of Retinitis Pigmentosa on Japanese Patients: A Non-interventional Cross-sectional Study.
Watanabe K, Aouadj C, Hiratsuka Y, Yamamoto S, Murakami A. Watanabe K, et al. Adv Ther. 2023 May;40(5):2375-2393. doi: 10.1007/s12325-023-02446-9. Epub 2023 Mar 22. Adv Ther. 2023. PMID: 36947329 Free PMC article.
INTRODUCTION: Retinitis pigmentosa (RP) is an inherited progressive disease, characterized by a loss of photoreceptors, and is the second leading cause of visual impairment in Japan. ...In working patients, work productivity loss was 26.2% per person and impairment …
INTRODUCTION: Retinitis pigmentosa (RP) is an inherited progressive disease, characterized by a loss of photoreceptors, and is …
Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients.
Kim YN, Song JS, Oh SH, Kim YJ, Yoon YH, Seo EJ, Seol CA, Lee SM, Choi JM, Seo GH, Keum C, Lee BH, Lee JY. Kim YN, et al. Sci Rep. 2020 Nov 11;10(1):19540. doi: 10.1038/s41598-020-75902-z. Sci Rep. 2020. PMID: 33177553 Free PMC article.
Due to the genotype-phenotype heterogeneity in retinitis pigmentosa (RP), molecular diagnoses and prediction of disease progression is difficult. This study aimed to report ocular and genetic data from Korean patients with PDE6B-associated RP (PDE6B-RP), and …
Due to the genotype-phenotype heterogeneity in retinitis pigmentosa (RP), molecular diagnoses and prediction of disease …
170 results