Adams-Oliver syndrome associated with refractory glaucoma

J AAPOS. 2024 Aug;28(4):103950. doi: 10.1016/j.jaapos.2024.103950. Epub 2024 Jun 10.

Abstract

Adams-Oliver syndrome (AOS) is a rare inherited disorder characterized by aplasia cutis congenita, cutis marmorata telangiectatica congenita, and terminal limb defects. Ocular associations have been rarely reported. We report a 6-month-old boy with AOS associated with refractory glaucoma, megalocornea, and anterior polar cataract. To our knowledge, this is the first case of glaucoma to be reported in association with AOS.

Publication types

  • Case Reports

MeSH terms

  • Cataract / congenital
  • Cataract / diagnosis
  • Ectodermal Dysplasia* / complications
  • Ectodermal Dysplasia* / diagnosis
  • Ectodermal Dysplasia* / genetics
  • Eye Diseases, Hereditary
  • Genetic Diseases, X-Linked
  • Glaucoma* / complications
  • Glaucoma* / congenital
  • Glaucoma* / diagnosis
  • Humans
  • Infant
  • Intraocular Pressure / physiology
  • Limb Deformities, Congenital / diagnosis
  • Limb Deformities, Congenital / genetics
  • Male
  • Scalp Dermatoses / congenital
  • Scalp Dermatoses / diagnosis
  • Scalp Dermatoses / genetics

Supplementary concepts

  • Adams Oliver syndrome
  • Megalocornea