Ocular Features in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type: A Clinical and In Vivo Confocal Microscopy Study

PURPOSE: To investigate ocular anomalies in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT). DESIGN: Prospective, cross-sectional study. METHODS: Forty-four eyes of 22 consecutive patients with an established diagnosis of JHS/EDS-HT and 44 eyes of 22 age- and gender-matched control subjects. Administration of a standardized questionnaire (Ocular Surface Disease Index) and a complete ophthalmologic examination, including assessment of best-corrected visual acuity, slit-lamp biomicroscopy, intraocular pressure measurement, indirect ophthalmoscopy, tear-film break-up tin e, Schirmer I testing, axial length and anterior chamber depth measurement, corneal topography, corneal padhymetry, and confocal microscopy. Main outcome measures included comparing ocular anomalies in JHS/HIS-HT and control eyes. RESULTS: JHS/EDS-HT patients reported dry eye symptoms more commonly than controls (P < .0001). Scores of tear-film break-up time and Schirmer I test we re significantly lower in JHS/EDS-HT eyes (P < .0001). Minor lens opacities were significantly more common in the JHS/EDS-HT group (13.6%; P < .05). Pahologic myopia with abnormal vitreous was found in 7 JHS/EDS-HT eyes (15.9%) and 0 controls (P = .01). Corneas were significantly steeper and the best-fit sphere index was significantly higher in JHS/EDS-HT group (P < .01). By confocal microscopy, the JHS/EDS-HT group showed lower density of cells in the superficial epithelium (P < .001) and higher density of stromal keratocytes in anterior and posterior stroma (P <. 0001). CONCLUSIONS: The most consistent association of eye anomalies in the JHS/EDS-HT group included xerophthalmia, steeper corneas, pathologic myopia, and vitreous abnormalities, as well as a higher rate of minor lens opacities. These findings indicate the need for ophthalmologic survey in the assessment and management of patients with JHS/EDS-HT. (Am J Ophthalmol 2012;154:593-600. (C) 2012 by Elsevier Inc. All rights reserved.)