DIAGNOSTIC PROCEDURES AND OPHTHALMOLOGIC FINDINGS IN JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS (BATTEN-MAYOU)

Background: Juvenile neuronal ceroid lipofuscinosis (JNCL) is importan t to the ophthalmologist, since eye symptoms are usually the first evi dence of the disease and permit establishment of an early diagnosis. T he disorder usually begins with a dramatic loss of vision between age 4 and 10 due to bulls-eye maculopathy followed by rapid degeneration o f the retina and pigment epithelium. Blindness results within 1 to 3 y ears after onset of symptoms. The further course of the disease is mai nly determined by degradation of the CNS with motor and intellectual d eficits. Most patients die before the age of 30. Methods: A case of tw o sisters is presented to demonstrate eye findings and diagnostic proc edures, emphasizing electrophysiologic and morphologic tests (peripher al blood smear,histology). Results: Both sisters reported the first de crease in vision at the ages of 8 and 6 respectively; visual acuity at time of visit was light projection (20/400). Both had tapetoretinal d egeneration with optic disc atrophy, narrowed vessels, pigment epithel iopathy and bullseye maculopathy. The ERG was almost extinguished in t he older sister and greatly reduced in the younger one (scotopic more than photopic). Histologically, vacuolated lymphocytes were found in t he peripheral blood smear, as were intracellular inclusions of the fin gerprint and curvilinear type in the conjunctival biopsy. Conclusion: During the course of JNCL, it is very common for the vision to be affe cted at the age of 6-7. The correct diagnosis, however, is often made yea rs later when massive neurologic symptoms such as seizures appear. When there is sudden loss of vision in a child of this age combined w ith a tapetoretinal degeneration, a biopsy or at least a peripheral bl ood smear should be performed.