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188 results

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Quoted phrase not found in phrase index: "Retinitis pigmentosa 33"
Page 1
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P. Birtel J, et al. Sci Rep. 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. Sci Rep. 2018. PMID: 29555955 Free PMC article.
Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for identifying mutations in patient with retinitis pigmentosa, which shows similar genetic heterogeneity. To detect the genetic causes of disease in patients with MD/CCRD, we implemented a tw …
Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for identifying mutations in patient with retinitis pigm …
Retinitis pigmentosa.
Pagon RA. Pagon RA. Surv Ophthalmol. 1988 Nov-Dec;33(3):137-77. doi: 10.1016/0039-6257(88)90085-9. Surv Ophthalmol. 1988. PMID: 3068820 Review.
The prevalence of retinitis pigmentosa is between 1/3000 and 1/5000 making it one of the most common causes of visual impairment in all age groups. ...Syndromes in which retinitis pigmentosa is a manifestation are summarized....
The prevalence of retinitis pigmentosa is between 1/3000 and 1/5000 making it one of the most common causes of visual impairme …
RETINITIS PIGMENTOSA SINE PIGMENTO: Clinical Spectrum and Pigment Development.
Lee EK, Lee SY, Ma DJ, Yoon CK, Park UC, Yu HG. Lee EK, et al. Retina. 2022 Apr 1;42(4):807-815. doi: 10.1097/IAE.0000000000003367. Retina. 2022. PMID: 34907125
PURPOSE: To investigate the clinical findings, natural course, and pigment development of patients with retinitis pigmentosa (RP) sine pigmento using multimodal imaging. METHODS: We reviewed the medical records of 810 consecutive patients with RP and assessed serial …
PURPOSE: To investigate the clinical findings, natural course, and pigment development of patients with retinitis pigmentosa ( …
Longitudinal Microstructure Changes of the Retina and Choroid in Retinitis Pigmentosa.
Yoon CK, Bae K, Yu HG. Yoon CK, et al. Am J Ophthalmol. 2022 Sep;241:149-159. doi: 10.1016/j.ajo.2022.05.002. Epub 2022 May 9. Am J Ophthalmol. 2022. PMID: 35551907
PURPOSE: To investigate longitudinal changes in the retinal and choroidal microstructure of the macula in patients with retinitis pigmentosa (RP). DESIGN: Retrospective, observational cohort study. ...RESULTS: Significant decreases (median [interquartile range]) in …
PURPOSE: To investigate longitudinal changes in the retinal and choroidal microstructure of the macula in patients with retinitis …
Choroidal Patterns in Retinitis Pigmentosa: Correlation with Visual Acuity and Disease Progression.
Arrigo A, Bordato A, Romano F, Aragona E, Grazioli A, Bandello F, Battaglia Parodi M. Arrigo A, et al. Transl Vis Sci Technol. 2020 Mar 18;9(4):17. doi: 10.1167/tvst.9.4.17. eCollection 2020 Mar. Transl Vis Sci Technol. 2020. PMID: 32818104 Free PMC article.
PURPOSE: The main aim was to identify different choroidal patterns in retinitis pigmentosa (RP) and to assess their clinical and anatomical meanings after 1 year of follow-up. ...Choroidal patterns 1, 2, and 3 were identified in 20 (44%), 15 (33%), and 10 (23 …
PURPOSE: The main aim was to identify different choroidal patterns in retinitis pigmentosa (RP) and to assess their clinical a …
Retinitis pigmentosa and the rhodopsin gene.
Shokravi MT, Dryja TP. Shokravi MT, et al. Int Ophthalmol Clin. 1993 Spring;33(2):219-28. doi: 10.1097/00004397-199303320-00020. Int Ophthalmol Clin. 1993. PMID: 8325735 Review. No abstract available.
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Feenstra HM, Al-Khuzaei S, Shah M, Broadgate S, Shanks M, Kamath A, Yu J, Jolly JK, MacLaren RE, Clouston P, Halford S, Downes SM. Feenstra HM, et al. Genes (Basel). 2022 Aug 10;13(8):1423. doi: 10.3390/genes13081423. Genes (Basel). 2022. PMID: 36011334 Free PMC article.
Background: This study aimed to compare phenotypegenotype correlation in patients with Usher syndrome (USH) to those with autosomal recessive retinitis pigmentosa (NS-ARRP) caused by genes associated with Usher syndrome. ...The patients were divided into three genot …
Background: This study aimed to compare phenotypegenotype correlation in patients with Usher syndrome (USH) to those with autosomal recessiv …
Abnormal stereopsis and reduced retinal sensitivity in patients with retinitis pigmentosa.
Vingolo EM, Limoli PG, Steigerwalt RDJ, Carlesimo SC, Salvatore S. Vingolo EM, et al. Int Ophthalmol. 2020 Jan;40(1):179-184. doi: 10.1007/s10792-019-01166-w. Epub 2019 Aug 28. Int Ophthalmol. 2020. PMID: 31463623
PURPOSE: The aim of the study was to evaluate retinal sensitivity and stereoacuity (SA) in retinitis pigmentosa (RP) patients. METHODS: Twenty-six patients with RP were examined, mean age 36.4 7.21 (SD) years old and best corrected visual acuity better than 0.15 log …
PURPOSE: The aim of the study was to evaluate retinal sensitivity and stereoacuity (SA) in retinitis pigmentosa (RP) patients. …
CRB1 mutations in inherited retinal dystrophies.
Bujakowska K, Audo I, Mohand-Saïd S, Lancelot ME, Antonio A, Germain A, Léveillard T, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Sahel JA, Bhattacharya SS, Zeitz C. Bujakowska K, et al. Hum Mutat. 2012 Feb;33(2):306-15. doi: 10.1002/humu.21653. Epub 2011 Dec 27. Hum Mutat. 2012. PMID: 22065545 Free PMC article. Review.
Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod-cone dystrophy, also called retinitis pigmentosa (RP). Moreover, retinal dystrophies resulting from CRB1 mutations …
Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (L …
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
Kimchi A, Khateb S, Wen R, Guan Z, Obolensky A, Beryozkin A, Kurtzman S, Blumenfeld A, Pras E, Jacobson SG, Ben-Yosef T, Newman H, Sharon D, Banin E. Kimchi A, et al. Ophthalmology. 2018 May;125(5):725-734. doi: 10.1016/j.ophtha.2017.11.014. Epub 2017 Dec 22. Ophthalmology. 2018. PMID: 29276052
PURPOSE: To analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descent, aiming to identify genotype-phenotype correlations. DESIGN: Cohort study. PARTICIPANTS: Retinitis pigmentosa patients from 230 …
PURPOSE: To analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descent, …
188 results