PURPOSE: To report the familial occurrence of optic pits and to screen the candidate PAX2 gene for mutations in this family. METHODS: Clinical family study. Standard mutation analysis of the PAX2 exons. RESULTS: Unilateral optic pits were present in three generations of one family and were inherited in an autosomal dominant fashion. No mutations in the PAX2 gene, responsible for the renal-optic coloboma syndrome, were found. CONCLUSION: Unilateral optic pits may be inherited in an autosomal dominant fashion and not in association with mutation in the PAX2 gene.
PURPOSE: To report the familial occurrence of optic pits and to screen the candidate PAX2 gene for mutations in this family. METHODS: Clinical family study. Standard mutation analysis of the PAX2 exons. RESULTS: Unilateral optic pits were present in three generations of one family and were inherited in an autosomal dominant fashion. No mutations in the PAX2 gene, responsible for the renal-optic coloboma syndrome, were found. CONCLUSION: Unilateral optic pits may be inherited in an autosomal dominant fashion and not in association with mutation in the PAX2 gene.
Authors: John H Fingert; Robert A Honkanen; Suma P Shankar; Louisa M Affatigato; Mary A Ehlinger; Michael D Moore; Lee M Jampol; Val C Sheffield; Edwin M Stone; Wallace L M Alward Journal: Am J Ophthalmol Date: 2007-03-19 Impact factor: 5.258
Authors: Thiago Gonçalves dos Santos Martins; Diogo Gonçalves dos Santos Martins; Ana Luiza Fontes de Azevedo Costa Journal: Einstein (Sao Paulo) Date: 2015-03-03