en Related Fields Related Fields مقاله کامل Full Length/Original Article <p><strong>Background:</strong> Inherited retinal diseases (IRDs) are a group of genetic disorders with high degrees of clinical, genetic and allelic heterogeneity. IRDs generally show progressive retinal cell death resulting in gradual vision loss. IRDs constitute a broad spectrum of disorders including retinitis pigmentosa and Leber congenital amaurosis. In this study, we performed genotyping studies to identify the underlying mutations in three Iranian families. <strong>Methods:</strong> Having employed homozygosity mapping and Sanger sequencing, we identified the underlying mutations in the crumbs homologue 1 gene. The CRB1 protein is a part of a macromolecular complex with a vital role in retinal cell polarity, morphogenesis, and maintenance.<strong> Results: </strong>We identified a novel homozygous variant (c.1053_1061del; p.Gly352_Cys354del) in one family, a combination of a novel (c.2086T>C; p.Cys696Arg) and a known variant (c.2234C>T, p.Thr745Met) in another family and a homozygous novel variant (c.3090T>A; p.Asn1030Lys) in a third family. <strong>Conclusion:</strong> This study shows that mutations in <em>CRB1 </em>are relatively common in Iranian non-syndromic IRD patients.</p> Retinal degeneration, Retinitis pigmentosa, Leber congenital amaurosis, Mutation, Iran 294 302 http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-2438-3&slc_lang=en&sid=1 Mohammad Ghofrani Yes Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran. Mahin Yahyaei No Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran. Han G. Brunner No Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Frans P.M. Cremers No Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Morteza Movasat No Eye Research Center, Tehran University of Medical Sciences, Farabi Eye Hospital, Tehran, Iran Muhammad Imran Khan No Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands Mohammad Keramatipour No Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran