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Quoted phrase not found in phrase index: "Retinitis pigmentosa 60"
Page 1
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM. Zampaglione E, et al. Genet Med. 2020 Jun;22(6):1079-1087. doi: 10.1038/s41436-020-0759-8. Epub 2020 Feb 10. Genet Med. 2020. PMID: 32037395 Free PMC article.
The NGS data were used to detect CNVs with ExomeDepth and gCNV and the results were compared with CNV detection with a single-nucleotide polymorphism (SNP) array. Likely causal CNV predictions were validated by quantitative polymerase chain reaction (qPCR). ...
The NGS data were used to detect CNVs with ExomeDepth and gCNV and the results were compared with CNV detection with a single-nucleotide pol …
Mitochondrial cytopathies.
El-Hattab AW, Scaglia F. El-Hattab AW, et al. Cell Calcium. 2016 Sep;60(3):199-206. doi: 10.1016/j.ceca.2016.03.003. Epub 2016 Mar 4. Cell Calcium. 2016. PMID: 26996063 Review.
Currently, there are no satisfactory therapies available for mitochondrial disorders that significantly alter the course of the disease. Therapeutic options include symptomatic treatment, cofactor supplementation, and exercise....
Currently, there are no satisfactory therapies available for mitochondrial disorders that significantly alter the course of the disea …
Cataract surgery in retinitis pigmentosa.
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A. Chatterjee S, et al. Indian J Ophthalmol. 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. Indian J Ophthalmol. 2021. PMID: 34146021 Free PMC article.
PURPOSE: The aim of this study was to evaluate visual outcomes of cataract surgery in patients with retinitis pigmentosa. METHODS: This retrospective case series includes a review of the medical records of all patients with retinitis pigmentosa undergo …
PURPOSE: The aim of this study was to evaluate visual outcomes of cataract surgery in patients with retinitis pigmentosa. METH …
Cone rod dystrophies.
Hamel CP. Hamel CP. Orphanet J Rare Dis. 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. Orphanet J Rare Dis. 2007. PMID: 17270046 Free PMC article. Review.
CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the macular region. In contrast to typical retinitis pigmentosa (RP), also called the rod cone dystrophies (RCDs) resulting from the primary loss in rod phot …
CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the macular region. In contrast …
Uveitis in children.
Pivetti-Pezzi P. Pivetti-Pezzi P. Eur J Ophthalmol. 1996 Jul-Sep;6(3):293-8. doi: 10.1177/112067219600600313. Eur J Ophthalmol. 1996. PMID: 8908437
Juvenile rheumatoid arthritis is the most common identifiable etiology of pediatric anterior uveitis (28%). However, its long-term prognosis is not satisfactory and ophthalmic surveillance protocols are necessary especially for ANA and HLA DR11 positive girls with the pauc …
Juvenile rheumatoid arthritis is the most common identifiable etiology of pediatric anterior uveitis (28%). However, its long-term progno …
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA. Schwartz SG, et al. Cochrane Database Syst Rev. 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. Cochrane Database Syst Rev. 2020. PMID: 32573764 Free PMC article.
BACKGROUND: Retinitis pigmentosa (RP) comprises a group of hereditary eye diseases characterized by progressive degeneration of retinal photoreceptors. ...Visual field loss is progressive and affects central vision later in the disease course. The worldwide p …
BACKGROUND: Retinitis pigmentosa (RP) comprises a group of hereditary eye diseases characterized by progressive degeneration o …
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 …
Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5.
Fujinami-Yokokawa Y, Yang L, Joo K, Tsunoda K, Liu X, Kondo M, Ahn SJ, Li H, Park KH, Tachimori H, Miyata H, Woo SJ, Sui R, Fujinami K. Fujinami-Yokokawa Y, et al. Genes (Basel). 2023 Sep 26;14(10):1869. doi: 10.3390/genes14101869. Genes (Basel). 2023. PMID: 37895218 Free PMC article.
Different severities were observed in terms of disease onset and the prognosis of visual acuity reduction. This multicentre large cohort study furthers our understanding of the phenotypic and genotypic spectra of patients with macular dystrophy and normal fundus. Evidently …
Different severities were observed in terms of disease onset and the prognosis of visual acuity reduction. This multicentre large coh …
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 …
Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, Michaelides M. Daich Varela M, et al. Ophthalmology. 2023 Dec;130(12):1327-1335. doi: 10.1016/j.ophtha.2023.07.027. Epub 2023 Aug 5. Ophthalmology. 2023. PMID: 37544434 Free PMC article.
RESULTS: The prevalence of IRD-related CLV was 0.5%; 54% of patients had isolated retinitis pigmentosa (RP), 21% had early-onset severe retinal dystrophy, and less frequent presentations were syndromic RP, sector RP, cone-rod dystrophy, achromatopsia, PAX6-related d …
RESULTS: The prevalence of IRD-related CLV was 0.5%; 54% of patients had isolated retinitis pigmentosa (RP), 21% had early-ons …
100 results