Dominant inheritance of optic pits.
case_series · Level IV
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- Record sourced from PubMed, PMID 9222245.
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Abstract
To report the familial occurrence of optic pits and to screen the candidate PAX2 gene for mutations in this family. Clinical family study. Standard mutation analysis of the PAX2 exons. 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. Unilateral optic pits may be inherited in an autosomal dominant fashion and not in association with mutation in the PAX2 gene.
Medical subject headings
- Optic Disk
- Optic Nerve Diseases