Dominant inheritance of optic pits

S. T. Stefko, P. Campochiaro, P. Wang, Y. Li, D. Zhu, E. I. Traboulsi

Research output: Contribution to journalArticlepeer-review

35 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)112-113
Number of pages2
JournalAmerican journal of ophthalmology
Issue number1
StatePublished - 1997
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology


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