Article
Molecular genetic analysis in autosomal dominant keratoconus.
Cornea - 1 Jul 1992
Rabinowitz Y S, Maumenee I H, Lundergan M K, Puffenberger E, Zhu D, Antonarakis S, Francomano C A
Abstract excerpt
Members in three generations of a family whose propositus had keratoconus were examined by biomicroscopy, with a corneoscope and a computer-assisted videophoto-keratoscope. Keratoconus was detected in eight of 15 family members with vertical transmission consistent with autosomal dominant inheritance. Affected individuals displayed variable topographic features. Abortive "nipple-type" cones were identified in...
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