change. Ocular and Systemic Manifestations

• PURPOSE: Cerebrotendinous xanthomatosis is a storage disease that usually leads to severe mental and neurologic deterioration before the diagnosis and start of treatment are established. We identi fied major ocular and systemic characteristics that may enable a diagnosis to be made earlier. • METHODS: Ten patients (group 1) of the U ni' versity Hospital Nijmegen, with a diagnosis of cerebrotendinous xanthomatosis, were re-exam-ined for detailed ocular and major clinical mani festations. Meanwhile, 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 xan thomatosis had been made in 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 patients 7 to 37 years old (average age, 18 years). Bilateral cataract was the major ocular manifestation in all 16 patients. Small irregular corticonuclear opacities, anterior polar cataracts, and dense posterior subcapsular cata racts were diagnosed at various ages (mean, 18 years; range, 4 to 40 years). Four patients showed clinical signs of optic neuropathy, whereas retinal function was normal in all pa-Aeeepted for publication June 9, 1995. From the Institutes of Ophthalmology (Drs. Cruysherf » am