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Two patients with severe corneal disease in KID syndrome

Shozo Sonoda1, Eisuke Uchino, Koh-Hei Sonoda

  • 1Department of Ophthalmology, Kagoshima University, Japan. shou@m3.kufm.kagoshima-u.ac.jp

American Journal of Ophthalmology
|January 1, 2004
PubMed

Insights

Two Japanese patients with Keratitis, Ichthyosis, and Deafness (KID) syndrome experienced severe corneal issues. Topical eye drops effectively managed their corneal conditions, suggesting a treatable ocular surface regulation disorder.

Area of Science:

  • Ophthalmology
  • Genetics
  • Dermatology

Background:

  • Keratitis, Ichthyosis, and Deafness (KID) syndrome is a rare genetic disorder.
  • Patients with KID syndrome often present with severe ocular surface abnormalities.

Observation:

  • Two independent Japanese patients with KID syndrome presented with significant corneal disease.
  • Patient 1, a 5-year-old boy, had diffuse superficial punctate keratopathy and neovascularization.
  • Patient 2, a 64-year-old man, exhibited stromal keratitis and corneal ulceration.

Findings:

  • Both patients showed diminished tear production and reduced areas of palisades of Vogt.
  • Genetic analysis revealed a GJB2 gene mutation in Patient 1 but not in Patient 2.
  • Corneal conditions were effectively managed with topical eye drops, including corticosteroids and antibiotics.

Implications:

  • The ocular surface regulating system may be impaired in KID syndrome, leading to corneal complications.
  • Topical ocular therapies can effectively manage corneal manifestations in KID syndrome.
  • Further research into the genetic and molecular basis of ocular involvement in KID syndrome is warranted.
Abstract

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