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Quoted phrase not found in phrase index: "Retinitis pigmentosa 70"
Page 1
Genetic dissection of non-syndromic retinitis pigmentosa.
Bhardwaj A, Yadav A, Yadav M, Tanwar M. Bhardwaj A, et al. Indian J Ophthalmol. 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. Indian J Ophthalmol. 2022. PMID: 35791117 Free PMC article. Review.
Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. ...It is so complicated that it is known as "fever of unknown origin". For prognosis and proper management of the disease, it is necessary to understand its genetic heterogeneity so tha …
Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. ...It is so complicated that it is known as "fever o …
Approach to inherited retinal diseases.
Ratra D, Ozdek S, Raviselvan M, Elchuri S, Sharma T. Ratra D, et al. Indian J Ophthalmol. 2022 Jul;70(7):2305-2315. doi: 10.4103/ijo.IJO_314_22. Indian J Ophthalmol. 2022. PMID: 35791111 Free PMC article. Review.
The patient and the family members are often anxious about further vision loss. They are eager to know the prognosis and chance of further worsening of the vision. It is important for every eye specialist to educate himself/herself about the basics of IRD. It would help to …
The patient and the family members are often anxious about further vision loss. They are eager to know the prognosis and chance of fu …
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M. Georgiou M, et al. Ophthalmology. 2023 Apr;130(4):413-422. doi: 10.1016/j.ophtha.2022.11.015. Epub 2022 Nov 22. Ophthalmology. 2023. PMID: 36423731 Free PMC article.
PURPOSE: To review and describe in detail the clinical course, functional and anatomic characteristics of RP2-associated retinal degeneration. ...Twenty-eight disease-causing variants were identified, with 20 not previously clinically characterized. Fifty-three patients (9 …
PURPOSE: To review and describe in detail the clinical course, functional and anatomic characteristics of RP2-associated retinal dege …
Retinal oximetry: Metabolic imaging for diseases of the retina and brain.
Stefánsson E, Olafsdottir OB, Eliasdottir TS, Vehmeijer W, Einarsdottir AB, Bek T, Torp TL, Grauslund J, Eysteinsson T, Karlsson RA, Van Keer K, Stalmans I, Vandewalle E, Todorova MG, Hammer M, Garhöfer G, Schmetterer L, Šín M, Hardarson SH. Stefánsson E, et al. Prog Retin Eye Res. 2019 May;70:1-22. doi: 10.1016/j.preteyeres.2019.04.001. Epub 2019 Apr 15. Prog Retin Eye Res. 2019. PMID: 30999027 Review.
This provides an objective biomarker for glaucomatous damage. In retinitis pigmentosa, an association exists between advanced atrophy, worse visual field and higher retinal venous oxygen saturation, lower arteriovenous difference. This biomarker may allow measuremen …
This provides an objective biomarker for glaucomatous damage. In retinitis pigmentosa, an association exists between advanced …
Research progress on human genes involved in the pathogenesis of glaucoma (Review).
Wang HW, Sun P, Chen Y, Jiang LP, Wu HP, Zhang W, Gao F. Wang HW, et al. Mol Med Rep. 2018 Jul;18(1):656-674. doi: 10.3892/mmr.2018.9071. Epub 2018 May 23. Mol Med Rep. 2018. PMID: 29845210 Free PMC article. Review.
A large number of studies have suggested that genetic factors are involved in the occurrence and development of glaucoma, and even affect the drug sensitivity and prognosis of glaucoma. In the present review, 22 loci of glaucoma are presented, including the relevant genes …
A large number of studies have suggested that genetic factors are involved in the occurrence and development of glaucoma, and even affect th …
Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.
Sen P, Srikrupa N, Maitra P, Srilekha S, Porkodi P, Gnanasekaran H, Bhende M, Khetan V, Mathavan S, Bhende P, Ratra D, Raman R, Rao C, Sripriya S. Sen P, et al. Indian J Ophthalmol. 2023 Jun;71(6):2512-2520. doi: 10.4103/IJO.IJO_2579_22. Indian J Ophthalmol. 2023. PMID: 37322672 Free PMC article.
PURPOSE: Inherited retinal dystrophies (IRD) are a heterogeneous group of retinal diseases leading to progressive loss of photoreceptors through apoptosis. Retinitis pigmentosa (RP) is considered the most common form of IRD. ...CONCLUSION: NGS-based genetic testing …
PURPOSE: Inherited retinal dystrophies (IRD) are a heterogeneous group of retinal diseases leading to progressive loss of photoreceptors thr …
Experiences of genetic testing among individuals with retinitis pigmentosa.
Krauss E, Macher J, Capasso J, Bernhardt B, Ali-KhanCatts Z, Levin A, Brandt R. Krauss E, et al. Ophthalmic Genet. 2022 Oct;43(5):633-640. doi: 10.1080/13816810.2022.2096243. Epub 2022 Jul 7. Ophthalmic Genet. 2022. PMID: 35796432
BACKGROUND: Retinitis pigmentosa (RP) is a genetically heterogeneous retinal dystrophy which results in progressive vision loss. ...Participants with both positive and negative genetic testing reported persistent uncertainty regarding their prognosis for visu …
BACKGROUND: Retinitis pigmentosa (RP) is a genetically heterogeneous retinal dystrophy which results in progressive vision los …
Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up.
Lisbjerg K, Bertelsen M, Lyng Forman J, Grønskov K, Prener Holtan J, Kessel L. Lisbjerg K, et al. Ophthalmic Genet. 2023 Apr;44(2):139-146. doi: 10.1080/13816810.2022.2123006. Epub 2022 Sep 26. Ophthalmic Genet. 2023. PMID: 36164253
BACKGROUND/AIMS: To investigate the natural history of PRPF31-related retinitis pigmentosa (RP11). MATERIALS AND METHODS: We identified individuals with RP11 and collected retrospective data from disease onset to present date including genetics, demographic data, Go …
BACKGROUND/AIMS: To investigate the natural history of PRPF31-related retinitis pigmentosa (RP11). MATERIALS AND METHODS: We i …
The nephronophthisis complex: clinical and genetic aspects.
Hildebrandt F, Waldherr R, Kutt R, Brandis M. Hildebrandt F, et al. Clin Investig. 1992 Sep;70(9):802-8. doi: 10.1007/BF00180751. Clin Investig. 1992. PMID: 1450635 Review.
Although they are almost indistinguishable clinically and pathologically, the two conditions are separated by a characteristic age of onset (11.5 years in NPH vs. 28.5 years in MCD) and by the mode of inheritance (autosomal recessive in NPH vs. autosomal dominant in MCD). An asso …
Although they are almost indistinguishable clinically and pathologically, the two conditions are separated by a characteristic age of onset …
High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.
Bellingrath JS, Ochakovski GA, Seitz IP, Kohl S, Zrenner E, Hanig N, Prokisch H, Weber BH, Downes SM, Ramsden S, MacLaren RE, Fischer MD. Bellingrath JS, et al. Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4457-4466. doi: 10.1167/iovs.17-22077. Invest Ophthalmol Vis Sci. 2017. PMID: 28863407
PURPOSE: Mutations in retinitis pigmentosa GTPase regulator (RPGR) cause 70% to 90% of X-linked retinitis pigmentosa (XLRP3) cases, making this gene a high-yield target for gene therapy. ...VA and foveal thickness, followed by perimetry III4e, were the …
PURPOSE: Mutations in retinitis pigmentosa GTPase regulator (RPGR) cause 70% to 90% of X-linked retinitis pigmentosa …
71 results