Familial congenital cornea guttata with anterior polar cataracts.
We examined 21 members of a family with a syndrome of cornea guttata and anterior polar cataracts. Twelve members had both ocular abnormalities. An affected woman underwent penetrating keratoplasty at age 28 years. Light microscopy of the corneal button showed changes consistent with cornea guttata and corneal edema. The combination of cornea guttata and anterior polar cataracts appears to form a well-defined ocular syndrome that is inherited in an autosomal dominant fashion.
Center for Sight, Georgetown University Medical Center, Washington, D.C.
E I
EI
Traboulsi
R J
RJ
Weinberg
D000328:Adult; D002386:Cataract / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D003315:Cornea / Q000473:pathology; D003316:Corneal Diseases / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D004487:Edema / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D010375:Pedigree