97th DOG Annual Meeting 1999
OCULAR MANIFESTATIONS OF EHLERS-DANLOS-SYNDROME
A. F. J. Freund, U. Schönherr, C. Y. Mardin
Introduction: The Ehlers-Danlos-Syndrome (EDS) is a rare, inherited disease entity comprising a heterogeneous group of 10 connective tissue disorders (types 1 to 10), all of which are associated with defective systemic collagen synthesis, thereby leading to hyperelasticity and fragility of skin, muscles and tendons, hypermobile joints, fragile blood vessels with easy bruising and hemorrhage and impaired wound healing in affected individuals. In addition, ocular manifestations of EDS have been described. The purpose of this study was to determine the frequency of ocular manifestations in EDS, to suggest measures for prevention and to provide follow-up recommendations.
Study population: 32 EDS-affected individuals were studied. 18 individuals were examined clinically, while 14 were evaluated using a standardized questionnaire.
Results: The following types of EDS were observed in the study population: type 2 in 36% of individuals, type 3 in 28%, type 1 in 16%, type 6 in 8%, type 4 in 8% and type 7 in 4%. 41% of patients had a positive family history for EDS. Ocular manifestations: dry eye syndrome in 63%, hyperextensible eyelids in 63%, myopia in 44% of patients (in 57% up to -3dpt, in 21.5% up to -6dpt and -9dpt, respectively), astigmatism in 28% (always less than 2dpt), strabismus in 35%, amblyopia in 22% (63% of all patients with strabismus had amblyopia) and epicanthus in 13%. Other findings were vitreoretinal peripheral degeneration of the retina. Keratoconus, blue sclerae, dislocated lens, retinal detachment or angoid streaks were not observed.
Conclusions: Ocular manifestations of EDS were mainly dry eye syndrome, myopia, strabism and hyperextensible eye lids. Although EDS-type 6 was originally described as predisposing patients to severe ocular changes, these changes were in fact not observed in our study population. Preventive measures in EDS will include consequent protection of the eye from trauma and definite therapy of the dry eye syndrome. A close follow-up of myopic degeneration is required as due to atrophic sclerae associated with EDS surgical repair of retinal detachment could prove technically very difficult. In children, we recommend close follow-ups for early recognition of microstrabismus and for prophylaxis of amblyopia.
Universitäts-Augenklinik, Schwabachanlage 6, D-91052 Erlangen, Germany