title: The spectrum of cavitary optic disc anomalies in a family.
abstract: The current classification of cavitary optic disc anomalies including the morphologically related entities--optic nerve pit, morning glory disc anomaly, coloboma of the optic nerve, and retinochoroidal coloboma involving the optic nerve--is inexact and confusing. Traditionally, these disc abnormalities have been regarded as distinct morphologic anomalies. Thirty-five members of a five-generation kindred with autosomal dominantly inherited optic disc anomalies were examined. Observed abnormalities in this pedigree comprised a spectrum of morphologic variants ranging from large anomalous discs to typical pits and colobomas. The findings in this family suggest a variable expression of a single autosomal dominant defect rather than the chance occurrence of three separate, distinct, but morphologically similar entities occurring in a single pedigree.
authors.affiliation: Department of Ophthalmology, Wake Forest University, Bowman Gray School of Medicine, Winston-Salem, NC 27103.
authors.forename: M M
authors.initials: MM
authors.lastname: Slusher
authors.forename: R G
authors.initials: RG
authors.lastname: Weaver
authors.forename: C M
authors.initials: CM
authors.lastname: Greven
authors.forename: T K
authors.initials: TK
authors.lastname: Mundorf
authors.forename: L F
authors.initials: LF
authors.lastname: Cashwell
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003103:Coloboma / Q000235:genetics*; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006801:Humans; D008875:Middle Aged; D009898:Optic Disk / Q000002:abnormalities*; D010375:Pedigree; D012163:Retinal Detachment / Q000235:genetics; D014792:Visual Acuity; D014794:Visual Fields