Abstract

FR.12.06

Impaired saccadic ocular movements – important indices in treatment of Gaucher’s disease and Niemann-Pick C disease?

Heike M. Elflein, Susanne Pitz
Augenklinik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz

Gaucher’s disease and Niemann-Pick C disease are rare, autosomal recessive inherited lysosomal storage disorders. They are frequently associated with neuroophthalmologic manifestations like supranuclear gaze palsies: In neuronopathic Gaucher’s disease usually horizontal gaze palsies are seen, in Niemann- Pick C there is an initial loss of vertical gaze, subsequently followed by horizontal gaze palsy. Saccade testing and recording (latency, duration, and velocity) allows objective assessment of gaze palsies. The potential of different therapies (enzyme replacement and substrate reduction therapy) to improve these clinical neuroophthalmologic manifestations is of general interest.

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