title: Optic nerve hypoplasia associated with pupillary light-near dissociation, spastic paraparesis and other non-ocular anomalies.
abstract: We report a case of bilateral optic nerve hypoplasia in a patient with pupillary light-near dissociation, spastic paraparesis with deep hyperreflexia, mild distal hypotrophy especially of lower limbs, bilateral pes cavus and signs of motor peripheral neuropathy. Other associated signs were rhinolalia, hypotrophy and fasciculations of the tongue and cardiomyopathy. We differentiate the condition from a number of hereditary ataxias and paraplegias. The clinical features of Strümpell-Lorrain spastic paraplegia and amyotrophic lateral sclerosis seem to resemble most closely that of our patient.
authors.affiliation: Clinica Oculistica, Università degli Studi di Padova.
authors.forename: D
authors.initials: D
authors.lastname: Doro
authors.forename: A
authors.initials: A
authors.lastname: Rossetti
authors.forename: P A
authors.initials: PA
authors.lastname: Battistella
authors.forename: P
authors.initials: P
authors.lastname: Fardin
authors.forename: F
authors.initials: F
authors.lastname: Moro
mesh_terms: D000015:Abnormalities, Multiple / Q000150:complications / Q000175:diagnosis; D002648:Child; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000175:diagnosis* / Q000503:physiopathology; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis; D006801:Humans; D008297:Male; D009896:Optic Atrophy / Q000150:complications / Q000175:diagnosis*; D010264:Paraplegia / Q000150:complications / Q000175:diagnosis*; D012025:Reflex, Pupillary; D013577:Syndrome