Karen Joos
Last active: 4/3/2019

Pediatric ptosis as a sign of treatable autonomic dysfunction.

Phillips L, Robertson D, Melson MR, Garland EM, Joos KM
Am J Ophthalmol. 2013 156 (2): 370-374.e2

PMID: 23622564 · PMCID: PMC3720787 · DOI:10.1016/j.ajo.2013.03.009

PURPOSE - 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.

DESIGN - 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.

Copyright © 2013 Elsevier Inc. All rights reserved.

MeSH Terms (18)

Adolescent Anti-Inflammatory Agents Arterial Pressure Autonomic Nervous System Diseases Blepharoptosis Deamino Arginine Vasopressin Diagnostic Techniques, Ophthalmological Dopamine beta-Hydroxylase Droxidopa Female Fludrocortisone Humans Intraocular Pressure Male Norepinephrine Prospective Studies Pupil Young Adult

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