title: Pediatric ptosis as a sign of treatable autonomic dysfunction.
abstract: OBJECTIVE
  To report the ophthalmic findings in young patients with dopamine β-hydroxylase deficiency and to assess them in the context of other reports in an attempt to discern if ophthalmic criteria may assist in early detection of this debilitating, yet treatable, disorder.
  
  
  METHODS
  Prospective, observational case series.
  
  
  METHODS
  An ophthalmic examination, including measuring intraocular and systemic blood pressures while supine, sitting, and standing, and eyelid function and pupillary function testing, was completed on 3 young patients with recently documented dopamine β-hydroxylase deficiency at a single institution.
  
  
  RESULTS
  Mean arterial blood pressures were 90.1 ± 18.5 mm Hg supine, 79.1 ± 25.7 mm Hg sitting, and 45.8 ± 11.6 mm Hg standing (P = .021). Mean intraocular pressures in these patients were 15.8 ± 1.0 mm Hg supine, 15.0 ± 3.6 mm Hg sitting, and 7.7 ± 2.3 mm Hg standing (P = .03). Mean palpebral fissure, levator function, and margin reflex distance were 8.2 ± 1.0 mm, 16.0 ± 0 mm, and 2.8 ± 0.6 mm, respectively. Measurable miosis was present in only 1 patient, and pupillary supersensitivity to 2.5% phenylephrine was not observed.
  
  
  CONCLUSIONS
  The ophthalmologic findings of the patients in this case series documented mild ptosis and striking orthostatic reductions in intraocular pressure and mean arterial blood pressure, as might be expected with a lack of intrinsic sympathetic function. Orthostatic intraocular pressure and mean arterial blood pressure may be a helpful early screening tool for autonomic dysfunction in children undergoing a ptosis evaluation.
authors.affiliation: Vanderbilt Eye Institute, Vanderbilt University, Nashville, TN 37232, USA.
authors.forename: Lara
authors.initials: L
authors.lastname: Phillips
authors.forename: David
authors.initials: D
authors.lastname: Robertson
authors.forename: Mark R
authors.initials: MR
authors.lastname: Melson
authors.forename: Emily M
authors.initials: EM
authors.lastname: Garland
authors.forename: Karen M
authors.initials: KM
authors.lastname: Joos
mesh_terms: D000293:Adolescent; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D062186:Arterial Pressure / Q000502:physiology; D001342:Autonomic Nervous System Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000503:physiopathology; D001763:Blepharoptosis / Q000175:diagnosis* / Q000188:drug therapy / Q000503:physiopathology; D003894:Deamino Arginine Vasopressin / Q000627:therapeutic use; D003941:Diagnostic Techniques, Ophthalmological; D004299:Dopamine beta-Hydroxylase / Q000172:deficiency; D015103:Droxidopa / Q000627:therapeutic use; D005260:Female; D005438:Fludrocortisone / Q000627:therapeutic use; D006801:Humans; D007429:Intraocular Pressure / Q000502:physiology; D008297:Male; D009638:Norepinephrine / Q000172:deficiency; D011446:Prospective Studies; D011680:Pupil / Q000502:physiology; D055815:Young Adult
chemical_list: D000893:Anti-Inflammatory Agents; D004299:Dopamine beta-Hydroxylase; D003894:Deamino Arginine Vasopressin; D015103:Droxidopa; D005438:Fludrocortisone; D009638:Norepinephrine