Ocular features in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type: a clinical and in vivo confocal microscopy study

To investigate ocular anomalies in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT).Prospective, cross-sectional study.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 time, Schirmer I testing, axial length and anterior chamber depth measurement, corneal topography, corneal pachymetry, and confocal microscopy. Main outcome measures included comparing ocular anomalies in JHS/EDS-HT and control eyes.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 were 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). Pathologic 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).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.