title: Bilateral giant retinal tears in a pediatric patient with leukemia inhibitory factor receptor deficiency (Stuve-Wiedemann syndrome).
abstract: OBJECTIVE
  To describe a case of retinal detachment in a patient with Stuve-Wiedemann syndrome.
  
  
  METHODS
  This report is a retrospective observational case report. The patient's demographics include age, gender, and race, as well as visual acuity, ophthalmic examination, and surgical intervention were extracted from the medical record. For immunohistochemistry studies, a sample of normal human retina from an enucleated specimen was obtained from the Pathology laboratory. A leukemia inhibitory factor receptor/CD118 antibody was obtained from Santa Cruz Biotechnology.
  
  
  RESULTS
  A 13-year-old Hispanic boy with known history of Stuve-Wiedemann syndrome (confirmed by genetic testing) presented with bilateral rhegmatogenous retinal detachments secondary to bilateral giant retinal tears. He underwent multiple surgical repairs in both eyes, resulting in successful reattachment in the right eye and an intractable closed funnel detachment in the left eye.
  
  
  CONCLUSIONS
  This is the first case of vitreoretinal pathology reported in Stuve-Wiedemann syndrome. Using immunohistochemistry staining, the authors found ubiquitous expression of leukemia inhibitory factor receptor protein in the normal human retina. They hypothesize that leukemia inhibitory factor receptor mutation may cause intrinsic weakness of the neurosensory retina predisposing it to injury.
authors: *Casey Eye Institute, Oregon Health and Science University, Portland, Oregon; and †Alkek Eye Center, Jamail Specialty Care Center, Houston, Texas.
authors: Neal V
authors: NV
authors: Palejwala
authors: Andrew J
authors: AJ
authors: Stempel
authors: J Timothy
authors: JT
authors: Stout
mesh_terms: D000293:Adolescent; D005097:Exostoses, Multiple Hereditary / Q000150:complications*; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications*; D053606:Receptors, OSM-LIF / Q000172:deficiency*; D012163:Retinal Detachment / Q000209:etiology*; D012167:Retinal Perforations / Q000209:etiology*; D012189:Retrospective Studies
chemical_list: D053606:Receptors, OSM-LIF