FAMILY WITH OPTIC ATROPHY AND NEUROLOGICAL SYMPTOMS

Abstract

A family from central Sweden with a combination of optic atrophy and neurological symptoms was thoroughly investigated. Fifteen persons (9 men and 6 women) were definitely affected, and in a few additional cases the disease was suspected. The symptoms had an insidious onset during school age in most cases and the disease was found to be slowly progressive. The neurological signs consisted of a foot deformity (pes cavus), slight foot paresis and mild sensory disturbances, absent achilles reflexes, exaggerated deep tendon reflexes in the arms and knee jerks, a Babinski response and slight ataxia. The reduction in visual acuity was also slowly progressive and in few cases led to blindness. A color vision defect was noted in the mild cases. The visual fields showed slight concentric reductions and enlarged blind spots. In one branch of the family the symptoms were pronounced, while in another branch they were mild. In some of these cases a foot deformity or color vision defect was the only sign. The histopathological investigation of the central nervous system in 1 of the patients revealed an advanced degeneration of the optic nerves, optic tracts and lateral geniculate bodies, somewhat less advanced degeneration of the inferior olives, olivo-cerebellar tracts and cerebellar cortex and a mild degeneration of the medial posterior columns of the spinal cord. These changes correlated with clinical findings. The family described differs from any cases reported.