Ocular manifestations of focal dermal hypoplasia syndrome

Arch Ophthalmol. 1977 Nov;95(11):1997-2001. doi: 10.1001/archopht.1977.04450110091009.


Although 40 percent of patients with the focal dermal hypoplasia syndrome have ocular abnormalities, to our knowledge, only one case of this condition has been previously described in the ophthalmic literature. Two additional cases are presented, and the systemic and ocular findings are reviewed.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Eye Abnormalities*
  • Female
  • Humans
  • Intellectual Disability
  • Skin / pathology
  • Skin Abnormalities*
  • Syndactyly
  • Syndrome