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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 …
VISUAL IMPAIRMENT IN RETINITIS PIGMENTOSA.
Vezinaw CM, Fishman GA, McAnany JJ. Vezinaw CM, et al. Retina. 2020 Aug;40(8):1630-1633. doi: 10.1097/IAE.0000000000002649. Retina. 2020. PMID: 31568063
PURPOSE: Retinitis pigmentosa (RP) is an inherited pigmentary retinal dystrophy where patients experience poor peripheral, night, and eventually central vision. ...The review was focused on the analysis of patients with 20/200 or worse vision in the better-seeing ey …
PURPOSE: Retinitis pigmentosa (RP) is an inherited pigmentary retinal dystrophy where patients experience poor peripheral, nig …
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R, Chan L, Oh JK, Cho A, Sparrow JR, Tsang SH. Jauregui R, et al. Sci Rep. 2020 Feb 25;10(1):3364. doi: 10.1038/s41598-020-60137-9. Sci Rep. 2020. PMID: 32098976 Free PMC article.
Retinitis pigmentosa (RP) is described as a bilateral disease with inter-eye symmetry that presents on short-wavelength fundus autofluorescence (SW-AF) imaging with hyperautofluorescent (hyperAF) rings with an ellipsoid shape and regular borders. ...We observed that …
Retinitis pigmentosa (RP) is described as a bilateral disease with inter-eye symmetry that presents on short-wavelength fundus …
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 …
Microvascular quantitative metrics in retinitis pigmentosa using optical coherence tomography angiography.
Duch Hurtado M, Vidal Oliver L, Marín Lambies C, Salom Alonso D. Duch Hurtado M, et al. Arch Soc Esp Oftalmol (Engl Ed). 2023 May;98(5):270-275. doi: 10.1016/j.oftale.2023.04.004. Epub 2023 Apr 7. Arch Soc Esp Oftalmol (Engl Ed). 2023. PMID: 37031736
AIMS: To describe the changes in vessel density (VD) using optical coherence tomography angiography (OCTA) of the different sectors in the macular area between retinitis pigmentosa (RP) patients and controls. METHODS: Observational case-control study. ...VD was sign …
AIMS: To describe the changes in vessel density (VD) using optical coherence tomography angiography (OCTA) of the different sectors in the m …
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 …
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 …
Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy.
Hadalin V, Buscarino M, Sajovic J, Meglič A, Jarc-Vidmar M, Hawlina M, Volk M, Fakin A. Hadalin V, et al. Int J Mol Sci. 2023 Feb 14;24(4):3840. doi: 10.3390/ijms24043840. Int J Mol Sci. 2023. PMID: 36835250 Free PMC article.
Genetic characteristics and a long-term clinical follow-up of 18 Slovenian retinitis pigmentosa GTPase regulator (RPGR) patients from 10 families with retinitis pigmentosa (RP) or cone/cone-rod dystrophy (COD/CORD) are reported. RP (eight families) was …
Genetic characteristics and a long-term clinical follow-up of 18 Slovenian retinitis pigmentosa GTPase regulator (RPGR) patien …
115 results