Retinal abnormalities in ophthalmoplegic lipidosis.

Ophthalmoplegic lipidosis is a recently recognised neurovisceral storage disease which is also described as 'a neurovisceral storage disease with vertical supranuclear opthalmoplegia" or as 'juvenile dystonic lipidosis.'23 The clinical presentation varies, but there appear to be 3 groups of patients: firstly, those who present in infancy with failure to thrive, jaundice, and hepatosplenomegaly; secondly, those presenting in childhood with dementia and ataxia; thirdly, those who present as unexplained hepatosplenomegaly between the ages of 5 and 9 years. In the infantile group splenomegaly is moderate and death may be rapideven before the neurological involvement is apparent. The older children may present with ataxia and dementia and may have minimal visceral involvement, though there is frequently a history of neonatal jaundice. The hepatosplenomegaly varies not only between patients but also in time in individual patients, even regression having been described.4 Vertical supranuclear opthalmoplegia is a common later finding and may be the key to the clinical diagnosis.' Usually predominantly affecting downwards saccades, the disease may also be associated with a selective disorder of vertical pursuit eye movements and defects of horizontal eye movement, and supranuclear convergence defects have been described. ' Diagnosis at the clinical level depends on the recognition of intellectual impairment, paresis of vertical gaze, ataxia, dysphagia, and dysarthria. Hepatosplenomegaly is variable, and fits may become prominent later. Bone marrow examination shows large foamy macrophages with a coarse vacuolated cytoplasm containing several darkly staining inclusions and occasional erythrocytes. Rarely, cells con-