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Am J Med Genet. 1988 Mar;29(3):597-605.

Optic nerve coloboma associated with renal disease.

Author information

1
Department of Ophthalmology, Wake Forest University, Winston-Salem, North Carolina.

Abstract

Optic nerve colobomas can occur as sporadic abnormalities, may be inherited as an autosomal dominant defect, occur as part of syndromes, and are rarely associated with cardiac malformations and midline encephaloceles. Karcher [1979] described a father and son with the "morning glory" optic disc anomaly and renal disease as a new association. We report on two brothers with optic nerve colobomas associated with renal disease. The ophthalmologic findings and renal histopathology are presented. This second familial occurrence suggests that the association of optic nerve coloboma and renal disease is a newly recognized syndrome.

PMID:
3377002
DOI:
10.1002/ajmg.1320290318
[Indexed for MEDLINE]

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