Ocular Manifestations of Congenital/Inherited Diseases

This patient is a 40-year-old man with a history of abetalipoproteinemia (Bassen-Kornweig syndrome), diagnosed at age 9. Neurologic complications have included ataxia, retinal degeneration, peripheral neuropathy, progressive leg weakness, dysarthria, and intermittent bladder incontinence. On his neuro-ophthalmologic examination, visual acuity was 20/200 in the right eye and 20/40 in the left eye. (The patient's acuity measurements have varied over the years, depending in part on his level of cooperation.) The pupils were sluggish bilaterally without an afferent defect. Visual fields were constricted, with bilateral central scotomas. Extraocular movements showed slow abducting saccades with adduction nystagmus. There were mild bilateral third nerve palsies greater on the right with bilateral aberrant lid regeneration. Ophthalmoscopy showed optic atrophy with large clumps of retinal pigment deposition and angioid streaks. The remainder of the neurologic examination demonstrated tongue atrophy, choreoathetoid movements, sensory neuropathy involving large and small fiber modalities, and corticospinal tract dysfunction. Laboratory data included an electroretinogram revealing decreased b-wave velocities in both eyes with a delay in the 30 hertz flicker stimulus. An EMG showed a chronic sensory neuropathy. MRI of the brain is normal. The patient has been a subject of a previous report (Cohen DA, Bosley TM, Savino PJ, et all: Primary aberrant regeneration of the oculomotor nerve: occurrence in a patient with abetalipoproteinemia. Arch Neurol 1985; 42:821-823). Pair with 92_02, 92_03, 92_04, 92_05, and 92_06. Disease/Diagnosis: Bassen-Kornweig Syndrome.