OCULAR AND SYSTEMIC MANIFESTATIONS OF CEREBROTENDINOUS XANTHOMATOSIS

PURPOSE: Cerebrotendinous xanthomatosis is a storage disease that usua lly leads to severe mental and neurologic deterioration before the dia gnosis and start of treatment are established. We identified major ocu lar and systemic characteristics that may enable a diagnosis to be mad e earlier. METHODS: Ten patients (group 1) of the University Hospital Nijmegen, with a diagnosis of cerebrotendinous xanthomatosis, were re- examined for detailed ocular and major clinical manifestations. Meanwh ile, we looked for similar but undiagnosed cases in patients (group 2) who visited the Institute of Ophthalmology during a 12-month period. RESULTS: A diagnosis of cerebrotendinous xanthomatosis had been made i n the patients of group 1 at an average age of 40 years (range, 33 to 48 years). Subsequently, six new cases (group 2) were diagnosed in pat ients 7 to 37 years old (average age, 18 years), Bilateral cataract wa s the major ocular manifestation in all 16 patients, Small irregular c orticonuclear opacities, anterior polar cataracts, and dense posterior subcapsular cataracts were diagnosed at various ages (mean, 18 years; range, 4 to 40 years). Four patients showed clinical signs of optic n europathy, whereas retinal function was normal in all patients. Other major clinical signs included a history of chronic diarrhea (since chi ldhood), mental deterioration (mean age, 23 years), neurologic deterio ration (mean age, 31 years), and tendon xanthomas mas (mean age, 37 ye ars), CONCLUSIONS: Appropriate biochemical investigations for cerebrot endinous xanthomatosis should be performed in patients with unexplaine d juvenile or early-onset adult cataracts, especially if these catarac ts are associated with chronic diarrhea since infancy, mental retardat ion or deterioration, neurologic dysfunction, or xanthomas.