Ocular features in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type: a clinical and in vivo confocal microscopy study.
OBJECTIVE
To investigate ocular anomalies in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT).


METHODS
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 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.


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 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).


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.
Department of Ophthalmology, Sapienza University, Umberto I Hospital, Rome, Italy. magda.gharbiya@tiscali.it
Magda
M
Gharbiya
Antonietta
A
Moramarco
Marco
M
Castori
Francesco
F
Parisi
Claudia
C
Celletti
Marco
M
Marenco
Isabella
I
Mariani
Paola
P
Grammatico
Filippo
F
Camerota
D000293:Adolescent; D000328:Adult; D003315:Cornea / Q000002:abnormalities; D019781:Corneal Topography; D003430:Cross-Sectional Studies; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000503:physiopathology; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007429:Intraocular Pressure / Q000502:physiology; D007593:Joint Instability / Q000151:congenital; D008297:Male; D018613:Microscopy, Confocal; D008875:Middle Aged; D047728:Myopia, Degenerative / Q000175:diagnosis; D010641:Phenotype; D011446:Prospective Studies; D012030:Refractive Errors / Q000175:diagnosis; D011795:Surveys and Questionnaires; D014792:Visual Acuity / Q000502:physiology; D014822:Vitreous Body / Q000002:abnormalities; D014985:Xerophthalmia / Q000175:diagnosis; D055815:Young Adult