Leber's hereditary optic neuropathy--case report and literature review.
BACKGROUND
Leber's hereditary optic neuropathy is an important cause of progressive painless visual loss among young male patients.


OBJECTIVE
To report on a case of a young patient with a clinical and neurophysiological condition suggestive of Leber's hereditary optic neuropathy, confirmed by genetic testing.


METHODS
We describe a 17-year-old male with progressive bilateral visual loss. Two maternal uncles had had similar patterns of visual loss. The patient had a history of smoking and alcohol abuse. Neuro-ophthalmological examination revealed visual acuity of 20/800 in both eyes, with decreased direct and consensual pupillary light reflexes. Fundus examination demonstrated pale optic discs. The visual evoked potential test showed signs of conduction disturbances in both optic nerves and campimetric study showed complete visual loss in all fields of both eyes. A diagnosis of bilateral optic neuropathy with a clinical suspicion of Leber's hereditary optic neuropathy was made. A blood sample was submitted to genetic analysis in relation to the principal mutations of this disorder, and homoplasmic mutation in 11778 was detected, thereby confirming the diagnosis of Leber's hereditary optic neuropathy.
Teive
Hélio Afonso Ghizoni
HA
Neurology Outpatient Clinic, Neurology Service, Department of Internal Medicine, Universidade Federal do Paraná, Curitiba, Paraná, Brazil. hagteive@mps.com.br
Troiano
André Ribeiro
AR
Raskin
Salmo
S
Werneck
Lineu César
LC
D000293:Adolescent; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008297:Male; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011379:Prognosis
D004272:DNA, Mitochondrial