GENETIC AND DEMOGRAPHIC ANALYSIS OF RETINITIS PIGMENTOSA IN IRAN DURING 2007-2008

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AREF ESHGHI ERFAN; MASOUMI PARVANEH

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Journal: Medical Sciences Journal of Islamic Azad University,Tehran Medical Branch Year:2012 | Volume:22 | Issue:1 Page(s): 78-84

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Title

GENETIC AND DEMOGRAPHIC ANALYSIS OF RETINITIS PIGMENTOSA IN IRAN DURING 2007-2008

Author(s)

AREF ESHGHI ERFAN | MASOUMI PARVANEH | Issue Writer Certificate

Keywords

RETINITIS PIGMENTOSAQ2

ONSETQ3

INHERITANCEQ3

CONSANGUINITYQ2

IRANQ2

Abstract

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-heritage. In this study, we studied different INHERITANCE patterns of the disease and their relationship with other factors like consanguineous 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 consanguineous 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 offspring’s of consanguineous marriages. INHERITANCE categorized 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 offspring’s of consanguineous 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 consanguineous marriages among the patients' parents which hasn' t been reported to date, plays an important role in this fact.

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APA: Copy

AREF ESHGHI, ERFAN, & MASOUMI, PARVANEH. (2012). GENETIC AND DEMOGRAPHIC ANALYSIS OF RETINITIS PIGMENTOSA IN IRAN DURING 2007-2008. MEDICAL SCIENCES JOURNAL OF ISLAMIC AZAD UNIVERSITY, 22(1), 78-84. SID. https://sid.ir/paper/98782/en

Vancouver: Copy

AREF ESHGHI ERFAN, MASOUMI PARVANEH. GENETIC AND DEMOGRAPHIC ANALYSIS OF RETINITIS PIGMENTOSA IN IRAN DURING 2007-2008. MEDICAL SCIENCES JOURNAL OF ISLAMIC AZAD UNIVERSITY[Internet]. 2012;22(1):78-84. Available from: https://sid.ir/paper/98782/en

IEEE: Copy

ERFAN AREF ESHGHI, and PARVANEH MASOUMI, “GENETIC AND DEMOGRAPHIC ANALYSIS OF RETINITIS PIGMENTOSA IN IRAN DURING 2007-2008,” MEDICAL SCIENCES JOURNAL OF ISLAMIC AZAD UNIVERSITY, vol. 22, no. 1, pp. 78–84, 2012, [Online]. Available: https://sid.ir/paper/98782/en

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