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:: Volume 22, Issue 1 (spring2012 2012) ::
MEDICAL SCIENCES 2012, 22(1): 78-84 Back to browse issues page
Genetic and demographic analysis of retinitis pigmentosa in Iran during 2007-2008
Erfan Aref Eshghi 1, Parvaneh Masoumi2
1- General practitioner, Islamic Azad University, Tehran Medical Branch, Tehran, Iran , Erfan1985@yahoo.com
2- PhD of Human Genetics, Department of Human genetics, Islamic Azad University, Tehran Medical Branch, Tehran, Iran
Abstract:   (19343 Views)
Background: RP (Retinitis Pigmentosa) is a genetic ophthalmic disease which affects patients in four ways categorized as autosomal dominant, autosomal recessive, X-linked recessive and non-herritage. In this study, we studied different inherritance patterns of the disease and their relationship with other factors like consanginious mating.
Materials and methods: In this descriptive study, 866 patients from "Iran RP Center" were analyzed statically on gender, ethnicity, education, onset of the disease, rate of progression, parental consanguinity, inheritance and underlying syndromes.
Results: 866 patients (40.4% female and 59.6% male) were studied. The first visual problems in approximately 70% of the patients were started in the first two decades of life. The mean age at onset was 11.15 years. Mean age at onset in patients with consanguinious parents was 9.4 years, but 15.3 years among others. The disease progressed slowly in 81.8%, rapidly in 9.3% and remained stationary in 8.9% of cases. 72.3% of cases were offsprings of consanginious marriages. Inheritance categorised as 2.5% autosomal dominant, 57.4% autosomal recessive, 8.9% X-linked recessive and 31.2% simplex. 92.3% of patients had non-syndromic RP. Among others, 4% classified as Usher syndrome, 1.2% Bardet biedel and 0.8% Leber congenital amaurosis.
Conclusion: This analysis showed that the main factor of prevalence of RP in Iran is consanguinity. Presentations start in young ages and offsprings of consanginious marriages are affected in younger ages than others. Ethnicity has no effect on prevalence of the disease. Autosomal dominant pattern of inheritance is dramaically at low rates in our society compared with others. It seems that high proportion of consanginious marriages among the patients' parents which hasn't been reported to date, plays an important role in this fact.
Keywords: Retinitis pigmentosa, Onset, Inheritance, Consanguinity, Iran
Full-Text [PDF 307 kb]   (6737 Downloads)    
Semi-pilot: Survey/Cross Sectional/Descriptive | Subject: Genetic
Received: 2012/04/3 | Published: 2012/04/15
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Aref Eshghi E, Masoumi P. Genetic and demographic analysis of retinitis pigmentosa in Iran during 2007-2008. MEDICAL SCIENCES 2012; 22 (1) :78-84
URL: http://tmuj.iautmu.ac.ir/article-1-545-en.html


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Volume 22, Issue 1 (spring2012 2012) Back to browse issues page
فصلنامه علوم پزشکی دانشگاه آزاد اسلامی واحد پزشکی تهران Medical Science Journal of Islamic Azad Univesity - Tehran Medical Branch
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