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1230 OCULAR INVOLVEMENT IN NIEMANN-PICK DISEASE, TYPE B

Niemann-Pick disease (NPD) is a heterogeneous group of disorders usually designated types A-E. Each type is characterized by the accumulation of excessive sphingomyelin. This classification scheme fails for an ever-growing number of NPD patients. We report a 7½ year old male with type B Niemann-Pick disease with normal neurological and intellectual function, but who does have cherry red spots. This patient represents the fourth case of a child with the clinical and biochemical findings of type B NPD, but with evidence of involvement of neural tissue. These patients may represent a distinct clinical variant of NPD, in whom the natural history has not yet been elucidated. The existence of this subset of type B NPD has implications for genetic and biochemical studies in NPD, as well as for genetic and prognostic counseling of families.