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Quoted phrase not found in phrase index: "Retinitis pigmentosa 64"
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USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.
Zhu T, Chen DF, Wang L, Wu S, Wei X, Li H, Jin ZB, Sui R. Zhu T, et al. Br J Ophthalmol. 2021 May;105(5):694-703. doi: 10.1136/bjophthalmol-2019-315786. Epub 2020 Jul 16. Br J Ophthalmol. 2021. PMID: 32675063
AIMS: To reveal the Usher syndrome type IIA (USH2A) gene variant profile in a large cohort of Chinese patients with non-syndromic retinitis pigmentosa (RP) or Usher syndrome type II (USH2) and to explore the genotype-phenotype correlation. ...The most common variant …
AIMS: To reveal the Usher syndrome type IIA (USH2A) gene variant profile in a large cohort of Chinese patients with non-syndromic retinit …
Thicknesses of the retina and choroid in children with retinitis pigmentosa.
Li C, Peng C, Zhang C, Li N. Li C, et al. BMC Ophthalmol. 2023 Jan 17;23(1):25. doi: 10.1186/s12886-023-02772-0. BMC Ophthalmol. 2023. PMID: 36650468 Free PMC article.
PURPOSE: To compare the retinal thicknesses (RT) and choroidal thicknesses (CT) in retinitis pigmentosa (RP) children with those of healthy children using enhanced depth imaging (EDI) optical coherence tomography (OCT). ...METHOD: A retrospective analysis was perfor …
PURPOSE: To compare the retinal thicknesses (RT) and choroidal thicknesses (CT) in retinitis pigmentosa (RP) children with tho …
Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.
Conti GM, Vaclavik V, Rivolta C, Escher P, Schorderet DF, Munier FL, Tran HV. Conti GM, et al. Ophthalmic Res. 2024;67(1):172-182. doi: 10.1159/000536036. Epub 2023 Dec 29. Ophthalmic Res. 2024. PMID: 38160664 Free article.
The pediatric cohort had a family molecular diagnosis rate of 64.4% and the 5 most common mutated genes per family were RS1 (9.2%), ABCA4 (7.7%), CNGB3 (7.7%), CACNA1F (6.2%), CEP290 (4.6%). ...
The pediatric cohort had a family molecular diagnosis rate of 64.4% and the 5 most common mutated genes per family were RS1 (9.2%), A …
Syndromic Retinitis Pigmentosa: A 15-Patient Study.
Holanda IP, Rim PHH, Rare Genomes Project Consortium, Guaragna MS, Gil-da-Silva-Lopes VL, Steiner CE. Holanda IP, et al. Genes (Basel). 2024 Apr 20;15(4):516. doi: 10.3390/genes15040516. Genes (Basel). 2024. PMID: 38674450 Free PMC article.
Retinitis pigmentosa is a group of genetically determined retinal dystrophies characterized by primary photoreceptor apoptosis and can occur in isolated or syndromic conditions. This study reviewed the clinical data of 15 patients with syndromic retinitis …
Retinitis pigmentosa is a group of genetically determined retinal dystrophies characterized by primary photoreceptor apoptosis …
Hyperautofluorescent Ring Pattern in Retinitis Pigmentosa: Clinical Implications and Modifications Over Time.
Antropoli A, Arrigo A, Bianco L, Cavallari E, Bandello F, Battaglia Parodi M. Antropoli A, et al. Invest Ophthalmol Vis Sci. 2023 Sep 1;64(12):8. doi: 10.1167/iovs.64.12.8. Invest Ophthalmol Vis Sci. 2023. PMID: 37669062 Free PMC article.
PURPOSE: The purpose of this study was to investigate the relation among hyperautofluorescent ring patterns, visual acuity (VA), and optical coherence tomography (OCT) features in patients with retinitis pigmentosa (RP), and to describe its modifications over time. …
PURPOSE: The purpose of this study was to investigate the relation among hyperautofluorescent ring patterns, visual acuity (VA), and optical …
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ. Stephenson KAJ, et al. Invest Ophthalmol Vis Sci. 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. Invest Ophthalmol Vis Sci. 2023. PMID: 37466950 Free PMC article.
PURPOSE: Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive (AR) syndromic inherited retinal degenerations (IRDs) representing 50% of deaf-blindness. All subtypes include retinitis pigmentosa, sensorineural hearing loss, and vestibular …
PURPOSE: Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive (AR) syndromic inherited retinal degenerations (IR …
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.
Zhu T, Shen Y, Sun Z, Han X, Wei X, Li W, Lu C, Cheng T, Zou X, Li H, Cao Z, Gao H, Ma X, Luo M, Sui R. Zhu T, et al. Am J Ophthalmol. 2023 Apr;248:96-106. doi: 10.1016/j.ajo.2022.11.023. Epub 2022 Dec 7. Am J Ophthalmol. 2023. PMID: 36493848
Four retinal dystrophy phenotypes were confirmed: Leber congenital amaurosis (LCA, 46/61), early-onset severe retinal dystrophy (EOSRD, 4/61), retinitis pigmentosa (RP, 10/61), and cone-rod dystrophy (CORD, 1/61). ...The most recurrent alterations in the IRD and SCP …
Four retinal dystrophy phenotypes were confirmed: Leber congenital amaurosis (LCA, 46/61), early-onset severe retinal dystrophy (EOSRD, 4/61 …
Association between retinitis pigmentosa and an increased risk of primary angle closure glaucoma: A population-based cohort study.
Hung MC, Chen YY. Hung MC, et al. PLoS One. 2022 Sep 9;17(9):e0274066. doi: 10.1371/journal.pone.0274066. eCollection 2022. PLoS One. 2022. PMID: 36083972 Free PMC article.
BACKGROUND: Retinitis pigmentosa (RP) is the most frequent retinal hereditary dystrophy and result in blindness if progresses. ...According to the univariate Cox regression analysis, the hazard of PACG development was significantly greater in the RP group, with an u …
BACKGROUND: Retinitis pigmentosa (RP) is the most frequent retinal hereditary dystrophy and result in blindness if progresses. …
Progression of Pentosan-Polysulfate Sodium-Associated Retinopathy: Intermediate Follow-Up.
Leung EH, Levie-Sprick A, Sharma S, Lee GD, Cho H, Yee DC, Mukkamala K. Leung EH, et al. Ophthalmic Surg Lasers Imaging Retina. 2023 Jul;54(7):388-394. doi: 10.3928/23258160-20230522-02. Epub 2023 Jun 1. Ophthalmic Surg Lasers Imaging Retina. 2023. PMID: 37310751

RESULTS: A total of 97 patients were included (33 with PPS-associated retinopathy and 64 without). The average follow-up was 29.4 months, overall cumulative dose was 1,220 910 g (1,730 870 vs 959 910; P < 0.0001), and total PPS duration was 12.1 7.1 years (16.0.2 6.1 vs

…
RESULTS: A total of 97 patients were included (33 with PPS-associated retinopathy and 64 without). The average follow-up was 29.4 mon …
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. ...
PURPOSE: To report the genotypes and clinical features of RHO-associated retinitis pigmentosa (RHO-RP) in the Kyushu region of …
95 results