P 274Arthrogryposis multiplex congenita and retinopathy case report
A. Schuster, N. Stübiger, E. Apfelstedt-Sylla, E. Zrenner
Background: Arthrogryposis multiplex congenita is a nonprogressive condition, which is characterized by congenital contracture of several joints on different body areas and may also occur as a manifestation of other syndromes. In such syndromes an ophthalmologic manifestation is described as blepharophimosis in Marden-Walker syndrome. Other ophthalmological findings are described in a few case reports (ophthalmoplegia, optic disc dysplasia, pathological changes of the retinal vessels, pigmentepitheliopathy and abnormal electroretinogram (ERG)).
Patient/Results: A 12-year-old girl with distal arthrogryposis multiplex congenita presented with progressive visual loss since one year. Visual acuity was 20/40 in OD and 20/25 in OS. Visual fields were concentrically constricted. Funduscopy revealed an atrophic retinal pigment epithelium on the whole fundus with vital discs. In the scotopic electroretinogram amplitudes were dramatically decreased or absent; cone signals were delayed. The multifocal ERG revealed pathologically reduced amplitudes as well in the macular region as in the periphery.
Discussion: The girl demonstrated arthrogryposis and retinopathy, other syndromal manifestations or cerebral retardation could not be seen. Here we present an unusual case of what seems to be a new arthrogryposis syndrome.
University Eye Hospital, Department of Pathophysiology of Vision and Neuroophthalmology, Schleichstraße 12, D-72076 Tübingen, Germany