Anophthalmia in the focal dermal hypoplasia syndrome

Arch Ophthalmol. 1990 Jan;108(1):96-100. doi: 10.1001/archopht.1990.01070030102038.


We examined an orbital exenteration specimen from an anophthalmic patient with focal dermal hypoplasia. Eyelid angiofibromas were evident and immunoperoxidase studies for human papilloma virus were negative. Orbital tissue contained a ductal cyst, chronic inflammation of the lacrimal duct and sac, rudimentary conjunctival fornices, lacrimal gland, striated muscle, and adipose tissue. Microscopic examination revealed a posteriorly located cystic structure with uveal and lens remnants. Neuroectodermal structures consistent with retina, optic nerve, or meninges were not observed, thus representing true anophthalmia. These findings remain as the only histopathologic description of ocular tissues in patients with focal dermal hypoplasia.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anophthalmos / diagnosis
  • Anophthalmos / etiology*
  • Anophthalmos / pathology
  • Ectodermal Dysplasia / complications*
  • Eye / pathology
  • Female
  • Focal Dermal Hypoplasia / complications*
  • Focal Dermal Hypoplasia / pathology
  • Humans
  • Orbit / pathology
  • Syndrome
  • Ultrasonography