Article - OCULAR MANIFESTATIONS OF EHLERS-DANLOS-SYNDROME

February 27, 2004

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

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