Rare Diseases Symptoms Automatic Extraction

Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome.

[wolf-hirschhorn syndrome]

The case presented is that of a 22-year-old male with Wolf-Hirschhorn syndrome who was referred with glaucoma refractory to medical treatment. Six other patients have been described with Wolf-Hirschhorn syndrome (WHS) and glaucoma, most being congenital glaucoma with diagnosis in infancy. We describe the first case of juvenile onset glaucoma in this syndrome. Our patient had narrow angles on gonioscopy, with ultrasound biomicroscopy revealing ciliary body cysts. We alert others to the possibility of this mechanism of secondary narrow angle glaucoma associated with this chromosomal deletion syndrome.

Diseases presenting "glaucoma" symptom

  • 22q11.2 deletion syndrome
  • aniridia
  • coats disease
  • cohen syndrome
  • krabbe disease
  • oculocutaneous albinism
  • oligodontia
  • proteus syndrome
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome

This symptom has already been validated