Walsh & Hoyt: Opticoacoustic Nerve Atrophy with Dementia

Jensen described a 3-year-old boy and his two maternal uncles with a syndrome characterized by severe sensorineural hearing loss with onset in infancy, followed by progressive optic atrophy in the second or third decades and progressive dementia in adulthood. Subsequent autopsy studies revealed generalized degeneration of the central nervous system with extensive calcification. Diffuse wasting of skeletal muscles was also found. An X-linked recessive inheritance was proposed, but mitochondrial inheritance may be as likely.