[Arthrogryposis multiplex congenita and retinitis pigmentosa]

Abstract

Background: Arthrogryposis multiplex congenita (AMC) is a heterogeneous pattern of symptoms consisting of clinically different types. AMC is a non-progressive condition, which is characterized by congenital contracture of several joints in different body areas and may also occur as a manifestation of other syndromes. In such syndromes retinopathy as an ophthalmological manifestation of AMC has been described in the literature in only two patients.

Case report: A 12-year-old girl with AMC presented with progressive visual loss since 1 year. Visual acuity was 0.5 in the right and 0.8 in the left eye. Visual fields were concentrically constricted. Funduscopy revealed an atrophic retinal pigment epithelium of the whole fundus with vital optic discs. In the scotopic electroretinogram (ERG) amplitudes were dramatically decreased or absent and cone signals were delayed. The multifocal ERG (mfERG) presented pathologically reduced amplitudes in the macular region as well as in the periphery. Examinations 5 and 8 years later revealed a reduction of visual acuity to 0.05 in the right and to 0.1 in the left eye, in addition the results of perimetry and of the Ganzfeld-ERG had deceased and the mfERG was no longer measurable.

Conclusion: This young female demonstrated an AMC in combination with retinitis pigmentosa, but other disease manifestations or cerebral retardation could not be found. We present here an unusual case of what seems to be a new athrogryposis syndrome.