Ring dermoid syndrome. A new syndrome of autosomal dominantly inherited, bilateral, annular limbal dermoids with corneal and conjunctival extension

Arch Ophthalmol. 1980 Jun;98(6):1059-61. doi: 10.1001/archopht.1980.01020031049007.

Abstract

A new hereditary syndrome of bilateral ocular dermoids is described in five patients from three generations of a single family. There were no associated extraocular anomalies. The choristomas involved the limbus for 360 degrees, extended anteriorly onto the cornea, and extended posteriorly about 5 mm within the conjunctiva for 360 degrees. Additional clinical findings of diagnostic value were conjunctival plaques of keratinization, hairs, and corneal lipid deposition. An irregular corneal astigmatism, amblyopia, and concomitant strabismus were secondary features. The unique bilateral, annular configuration of the dermoids is pathognomonic of this syndrome. Early surgical intervention is indicated to try to improve the visual prognosis and cosmesis. At surgery, the conjunctival portion of one case was easily resected in toto, but the limbal portion required partial excision. Histopathological examination confirmed the clinical diagnosis of dermoid choristoma.

Publication types

  • Case Reports

MeSH terms

  • Dermoid Cyst / genetics*
  • Eye Neoplasms / genetics*
  • Humans
  • Infant
  • Male
  • Pedigree
  • Syndrome