Tehran University of Medical Sciences Acta Medica Iranica 0044-6025 56 2 2018 02 17 84 89 EN Mehran Zarei-Ghanavati Farabi Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran. Reza Ghaffari Farabi Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran. Hoda Abedkhojasteh Farabi Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran. Kasra Raoufian Department of General Surgery, Sina Hospital, Mashhad, Iran. Reza Raoofian Legal Medicine Research Center, Legal Medicine Organization, Tehran, Iran. Masoumehe Mohebbi Farabi Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran. Mansour Heidari Department of Molecular Biology and Genetics, Islamic Azad University, Bushehr Branch, Bushehr, Iran. AND Experimental Medicine Research Center, Tehran University of Medical Sciences, Tehran, Iran. 2017 06 01 2017 11 08 Non-syndromic aniridia (iris hypoplasia) as an autosomal dominant eye disorder results from the chromosomal abnormalities and mutations within the paired box gene 6 (PAX6). The aim of this study was to investigate on the clinical and the underlying genetic alteration in PAX6 gene in a large pedigree with five generations of Iranian family with an autosomal dominant aniridia. Here, we reported unique clinical features in terms of presenting nystagmus, ptosis, minimal iris abnormality, foveal hypoplasia and late-onset clinical limbal stem cell deficiency. Genomic DNA was extracted from the affected members and polymerase chain reaction (PCR) was conducted using specific primers to amplify coding sequence of PAX6. Then, PCR products were subjected to bidirectional dye terminator sequencing. A heterozygous transversion mutation A→T (c.1268A>T, p.*423Lext*15) in exon 13 of PAX6 was identified in all affected individuals, but not in the healthy members. This is the first report of non-stop mutation in PAX6 gene in an Iranian family accompanied with an isolated form of unusual congenital aniridia running within this family. https://acta.tums.ac.ir/index.php/acta/article/view/6500 https://acta.tums.ac.ir/index.php/acta/article/download/6500/5050