Literature DB >> 1395082

Prevalence of retinitis pigmentosa in Slovenia.

B Peterlin1, N Canki-Klain, V Morela, B Stirn, S Rainer, V Cerar.   

Abstract

Two hundred and twenty-nine symptomatic patients with retinitis pigmentosa were ascertained in Slovenia between 1986 and 1990. Twenty-three further patients were identified while data from 63 families (82 patients) were being collected. After correction for underascertainment, a prevalence of 1 in 6023 was estimated in the Slovene population (1,999,477 in 1990). The highest prevalence of 1 in 1902 was found in the age group 65 years and older. Of 63 analysed families, 17 (27%) showed autosomal dominant, 13 (21%) autosomal recessive, and one family (1.5%) X-linked inheritance; in 30 families (47.5%) isolated cases were found; and in two families the mode of inheritance was impossible to determine.

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Year:  1992        PMID: 1395082     DOI: 10.1111/j.1399-0004.1992.tb03222.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  13 in total

1.  Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento.

Authors:  Li Ma; Xun-Lun Sheng; Hui-Ping Li; Fang-Xia Zhang; Ya-Ni Liu; Wei-Ning Rong; Jian-Ling Zhang
Journal:  Int J Ophthalmol       Date:  2013-08-18       Impact factor: 1.779

2.  Genetic features of retinitis pigmentosa in Turkey.

Authors:  L S Atmaca; B S Sayli; N Akarsu; K Gündüz
Journal:  Doc Ophthalmol       Date:  1995       Impact factor: 2.379

Review 3.  A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies.

Authors:  F S Sorrentino; C E Gallenga; C Bonifazzi; P Perri
Journal:  Eye (Lond)       Date:  2016-08-26       Impact factor: 3.775

4.  Differential pattern of RP1 mutations in retinitis pigmentosa.

Authors:  Xin Zhang; Li Jia Chen; Jonathan P Law; Timothy Y Y Lai; Sylvia W Y Chiang; Pancy O S Tam; Kwan Yi Chu; Ningli Wang; Mingzhi Zhang; Chi Pui Pang
Journal:  Mol Vis       Date:  2010-07-15       Impact factor: 2.367

5.  Clinical and Rehabilitative Management of Retinitis Pigmentosa: Up-to-Date.

Authors:  Francesco Parmeggiani; Giovanni Sato; Katia De Nadai; Mario R Romano; Andrea Binotto; Ciro Costagliola
Journal:  Curr Genomics       Date:  2011-06       Impact factor: 2.236

6.  Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking.

Authors:  Marzio Chizzolini; Alessandro Galan; Elisabeth Milan; Adolfo Sebastiani; Ciro Costagliola; Francesco Parmeggiani
Journal:  Curr Genomics       Date:  2011-06       Impact factor: 2.236

7.  Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.

Authors:  Avigail Beryozkin; Gal Levy; Anat Blumenfeld; Segev Meyer; Prasanthi Namburi; Yair Morad; Libe Gradstein; Anand Swaroop; Eyal Banin; Dror Sharon
Journal:  Invest Ophthalmol Vis Sci       Date:  2016-03       Impact factor: 4.799

8.  Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.

Authors:  Lin Li; Yabin Chen; Xiaodong Jiao; Chongfei Jin; Dan Jiang; Mukesh Tanwar; Zhiwei Ma; Li Huang; Xiaoyin Ma; Wenmin Sun; Jianjun Chen; Yan Ma; Oussama M'hamdi; Gowthaman Govindarajan; Patricia E Cabrera; Jiali Li; Nikhil Gupta; Muhammad Asif Naeem; Shaheen N Khan; Sheikh Riazuddin; Javed Akram; Radha Ayyagari; Paul A Sieving; S Amer Riazuddin; J Fielding Hejtmancik
Journal:  Invest Ophthalmol Vis Sci       Date:  2017-04-01       Impact factor: 4.799

9.  Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.

Authors:  Avigail Beryozkin; Elia Shevah; Adva Kimchi; Liliana Mizrahi-Meissonnier; Samer Khateb; Rinki Ratnapriya; Csilla H Lazar; Anat Blumenfeld; Tamar Ben-Yosef; Yitzhak Hemo; Jacob Pe'er; Eduard Averbuch; Michal Sagi; Alexis Boleda; Linn Gieser; Abraham Zlotogorski; Tzipora Falik-Zaccai; Ola Alimi-Kasem; Samuel G Jacobson; Itay Chowers; Anand Swaroop; Eyal Banin; Dror Sharon
Journal:  Sci Rep       Date:  2015-08-26       Impact factor: 4.379

10.  Macular abnormalities in Italian patients with retinitis pigmentosa.

Authors:  Francesco Testa; Settimio Rossi; Raffaella Colucci; Beatrice Gallo; Valentina Di Iorio; Michele della Corte; Claudio Azzolini; Paolo Melillo; Francesca Simonelli
Journal:  Br J Ophthalmol       Date:  2014-02-13       Impact factor: 4.638

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