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Quoted phrase not found in phrase index: "Retinitis pigmentosa 46"
Page 1
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T. Ma J, et al. Hum Genomics. 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. Hum Genomics. 2023. PMID: 36597107 Free PMC article.
In accordance with the American College of Medical Genetics and Genomics, pathogenic, likely pathogenic and variants of uncertain significance accounted for 34.3%, 19.3% and 46.4% of all detected variants, respectively. The most common genes included GJB2, SLC26A4, MYO15A, …
In accordance with the American College of Medical Genetics and Genomics, pathogenic, likely pathogenic and variants of uncertain significan …
Clinical presentation and macular morphology in retinitis pigmentosa patients.
Okonkwo ON, Hassan AO, Agweye CT, Victor U, Akanbi T. Okonkwo ON, et al. Ann Afr Med. 2023 Oct-Dec;22(4):451-455. doi: 10.4103/aam.aam_181_22. Ann Afr Med. 2023. PMID: 38358145 Free PMC article.
BACKGROUND: Optical coherence tomography (OCT) is a noninvasive, frequently used imaging technology that enables detailed viewing of retina anatomy. It is used to monitor disease progression in retinitis pigmentosa (RP) eyes, including detecting changes in retinal t …
BACKGROUND: Optical coherence tomography (OCT) is a noninvasive, frequently used imaging technology that enables detailed viewing of retina …
Clinical and Genetic Analysis of Retinitis Pigmentosa with Primary Angle Closure Glaucoma in the Chinese Population.
Wang DD, Gao FJ, Hu FY, Cao WJ, Xu P, Huang Y, Sun XH, Wu JH. Wang DD, et al. Curr Eye Res. 2022 Sep;47(9):1339-1345. doi: 10.1080/02713683.2022.2085303. Epub 2022 Aug 3. Curr Eye Res. 2022. PMID: 35924323
PURPOSE: Retinitis pigmentosa (RP) constitutes a class of common inherited retinal dystrophies. ...RESULTS: In total, 18 patients with acute PACG and 21 patients with chronic PACG were included in this study; their age at examination was 50.54 12.99 years (range, 25 …
PURPOSE: Retinitis pigmentosa (RP) constitutes a class of common inherited retinal dystrophies. ...RESULTS: In total, 18 patie …
Clinical Presentation and Demographic Distribution of Retinitis Pigmentosa in India and Implications for Potential Treatments: Electronic Medical Records Driven Big Data Analytics: Report I.
Parameswarappa DC, Das AV, Dave VP, Agarwal K, Natarajan R, Jalali S. Parameswarappa DC, et al. Semin Ophthalmol. 2022 Apr 3;37(3):284-290. doi: 10.1080/08820538.2021.1957126. Epub 2021 Aug 17. Semin Ophthalmol. 2022. PMID: 34404308
AimTo describe the clinical presentation and demographic distribution of retinitis pigmentosa in patients presenting to a multi-tier ophthalmology hospital network in India and implications for potential treatments.DesignCross-sectional hospital-based study.MethodsT …
AimTo describe the clinical presentation and demographic distribution of retinitis pigmentosa in patients presenting to a mult …
Non-malignant uveitis masquerade syndromes.
Kubicka-Trzaska A, Romanowska-Dixon B. Kubicka-Trzaska A, et al. Klin Oczna. 2008;110(4-6):203-6. Klin Oczna. 2008. PMID: 18655463 Review.
The authors review most common non-malignant conditions which may be considered masquerades such as: retained intraocular foreign body, rhegmatogenous retinal detachment, myopic degeneration, pigment dispersion syndrome, ocular ischemic syndrome, infectious intraocular inflammati …
The authors review most common non-malignant conditions which may be considered masquerades such as: retained intraocular foreign body, rheg …
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. ...Glaucoma was managed medic …
The most common retinal dystrophy associated with PACD was retinitis pigmentosa (RP) followed by RP with retinoschisis. The ho …
ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.
Korkmaz E, Lipska-Ziętkiewicz BS, Boyer O, Gribouval O, Fourrage C, Tabatabaei M, Schnaidt S, Gucer S, Kaymaz F, Arici M, Dinckan A, Mir S, Bayazit AK, Emre S, Balat A, Rees L, Shroff R, Bergmann C, Mourani C, Antignac C, Ozaltin F, Schaefer F; PodoNet Consortium. Korkmaz E, et al. J Am Soc Nephrol. 2016 Jan;27(1):63-8. doi: 10.1681/ASN.2014121240. Epub 2015 May 12. J Am Soc Nephrol. 2016. PMID: 25967120 Free PMC article.
Patients with ADCK4 mutations showed a largely renal-limited phenotype, with three subjects exhibiting occasional seizures, one subject exhibiting mild mental retardation, and one subject exhibiting retinitis pigmentosa. ADCK4 nephropathy presented during adolescenc …
Patients with ADCK4 mutations showed a largely renal-limited phenotype, with three subjects exhibiting occasional seizures, one subject exhi …
Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.
Jin J, Liang L, Jin K, Zhang HJ, Liu R, Shen Y. Jin J, et al. Brain Topogr. 2022 Jul;35(4):525-535. doi: 10.1007/s10548-021-00885-7. Epub 2022 Jan 10. Brain Topogr. 2022. PMID: 35006499
To study the associations between RDH12 gene mutations, fundus types, and clinical manifestations. In total, 46 patients with inherited eye diseases caused by RDH12 gene mutations were included in this study. ...Of the 46 patients, retinitis pigmentosa …
To study the associations between RDH12 gene mutations, fundus types, and clinical manifestations. In total, 46 patients with inherit …
Retinitis pigmentosa in Usher syndrome in India: Electronic medical records driven big data analytics: Report III.
Parameswarappa DC, Das AV, Doctor MB, Natarajan R, Agarwal K, Jalali S. Parameswarappa DC, et al. Indian J Ophthalmol. 2022 Jul;70(7):2540-2545. doi: 10.4103/ijo.IJO_2272_21. Indian J Ophthalmol. 2022. PMID: 35791152 Free PMC article.
PURPOSE: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in patients with Usher syndrome (USH). METHODS: This is a cross-sectional observational hospital-based study including patients presenting between March 2012 and …
PURPOSE: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in patients with Ushe …
123 results