title: Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome.
abstract: 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.
authors.affiliation: Ophthalmology Department, Sydney Eye Hospital, New South Wales, Australia. jeremydcurtin@gmail.com
authors.forename: Jeremy
authors.initials: J
authors.lastname: Curtin
authors.forename: Greg
authors.initials: G
authors.lastname: Moloney
authors.forename: John
authors.initials: J
authors.lastname: Grigg
authors.forename: Dorian
authors.initials: D
authors.lastname: Sharota Franzco
mesh_terms: D000959:Antihypertensive Agents / Q000627:therapeutic use; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D002924:Ciliary Body / Q000000981:diagnostic imaging / Q000473:pathology; D003560:Cysts / Q000000981:diagnostic imaging; D015812:Glaucoma, Angle-Closure / Q000175:diagnosis / Q000235:genetics*; D006068:Gonioscopy; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D033401:Microscopy, Acoustic; D014603:Uveal Diseases / Q000000981:diagnostic imaging; D054877:Wolf-Hirschhorn Syndrome / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
chemical_list: D000959:Antihypertensive Agents