[Optic atrophy, sensorineural deafness and sensory neuropathy].
We present a patient with slowly progressing optic atrophy, sensorineural deafness and sensory neuropathy. Clinical examination and testing revealed the exclusively sensorineural nature of this syndrome. Nerve biopsy pointed to primary degeneration. Our review of the literature indicates that this syndrome is categorized as heredo-degenerative.
Monge Argiles
J A
JA
Sección de Neurología, Hospital General de Elche, Valencia.
Alom Poveda
J
J
Espinosa Martínez
J
J
Pérez Arroyo
M
M
Roca Estelles
M J
MJ
D000293:Adolescent; D001299:Audiometry; D001369:Axons / Q000473:pathology; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000175:diagnosis; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000473:pathology*; D006801:Humans; D009896:Optic Atrophy / Q000150:complications / Q000175:diagnosis / Q000473:pathology*; D013497:Sural Nerve / Q000503:physiopathology / Q000648:ultrastructure
Atrofia óptica, sordera neurosensorial y neuropatía sensitiva.