Pubblicazioni scientifiche

The cornea in classic type Ehlers-Danlos syndrome: macro- and micro-structural changes.

Invest Ophthalmol Vis Sci. 2013/10

Villani E, Garoli E, Bassotti A, Magnani F, Tresoldi L, Nucci P, Ratiglia R.

Scienze Cliniche e di Comunità, University of Milan. Eye Clinic San Giuseppe Hospital of Milan, Via m. Fanti, 6, Milan, 20122, Italy.

PURPOSE:
To analyze in vivo corneal morphology and ultrastructural features in patients with classic Ehlers-Danlos syndrome (EDS). Methods: Fifty patients with classic EDS and 50 age- and gender-matched control subjects were studied. A clinical evaluation was made with the Ocular Surface Disease Index (OSDI) questionnaire and a complete ophthalmic examination, including assessment of the best-corrected visual acuity and refraction, slit-lamp biomicroscopy, tear break-up time, intraocular pressure, Schirmer test without topical anesthesia, and corneal diameter. Scheimpflug camera topography and in vivo confocal microscopy (IVCM) were used to investigate corneal morphology and corneal ultrastructural features respectively. Results: Classic EDS patients, compared to controls, had thinner and steeper corneas (P<0.001 and P<0.05, respectively; independent samples t-test). IVCM showed, in these patients, thinner stromas, lower keratocyte densities (P<0.001), increased applanation-related stromal folds (P<0.001; Mann-Whitney U test), and increased endothelial hyper-reflective dots (P<0.05). The study group also had increased symptoms (OSDI score: P<0.01, independent samples t-test) and signs (tear break-up time and Schirmer test: P<0.001 and P<0.05, respectively) of tear film dysfunction. Conclusions: Patients with classic EDS had macro- and micro-structural changes of the cornea, which is a target tissue of the disease. These findings should be considered to optimize clinical management of these patients and to evaluate the opportunity of adding ocular findings to the classic EDS diagnostic criteria.

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