The study of the genetic influence in patients afflicted with detachment of the retina is one avenue toward an understanding of the pathogenesis of retinal detachment. Retinal detachment with a familial incidence and associated with an inherited defect in connective tissue is of particular interest, as increased understanding of the systemic abnormality may also contribute information about the fundamental ocular disease. It is the purpose of this report to record the association of familial retinal detachment and the Ehlers-Danlos syndrome.
The Ehlers-Danlos syndrome is an inherited disorder of connective tissue which is manifested clinically by hyperelastic, fragile skin and hyperlaxity of the joints. Wounds of the skin have a tendency to gape and poor healing and scarring is common. The fragile skin may split spontaneously over a large hematoma or upon suddenly twisting the wrist.1,2 The scars are mobile over the underlying tissues and most marked over
PEMBERTON JW, FREEMAN HM, SCHEPENS CL. Familial Retinal Detachment and the Ehlers-Danlos Syndrome. Arch Ophthalmol. 1966;76(6):817-824. doi:10.1001/archopht.1966.03850010819007