International Journal of Medical Laboratory

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Beigi F, Vahidi Mehrjardi M Y, Manaviat M R, Ashrafzadeh H R, Ghasemi N. Study of Patterns of Inheritance in Affected Patients with Retinitis Pigmentosa in Iranian Populations. IJML 2020; 7 (1) :9-14
URL: http://ijml.ssu.ac.ir/article-1-326-en.html

Background and Aims: Retinitis pigmentosa (RP) is the most common form of inherited retinal degeneration, photoreceptors loss of which in the retina causes visual loss. The purpose of the present study was to determine patterns of inheritance in RP patients in Yazd to help the health professional for designing suitable laboratory testing for the high risk families.
Materials and Methods: Thirty affected RP patients referred to the Genetics Clinic of Research and Clinical Center for Infertility, in Yazd Medical Sciences University from 2010-2016. Full medical and family histories were taken from all family members. Ophthalmology examinations were performed in members of the families including electroretinogram, fundus photography, visual-field measurements and spectral domain optical coherence tomography.
Results: In this study, the most commonly pattern was inheritance of autosomal recessive. The patients were diagnosed as having Usher syndrome, Bardet-Biedl syndrome and Posterior Column Ataxia with Retinitis Pigmentosa. The study also reported a patient with Kreans-Sayer syndrome, a mitochondrial disease.
Conclusions: We identified different inheritance patterns in RP patients. Identifying patterns of inheritance is important for pre-marriage and pre-conception genetic counselling.