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.