Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy.
The authors report a case of one patient from a family carrying the homoplasmic Leber hereditary optic neuropathy (LHON) G11778A mitochondrial DNA mutation with papilloedema 9 months prior to the acute stage of LHON and still present at the onset of visual loss. During the vision loss, the MRI demonstrated a T2 hyperintensity and an enhancement of the prechiasmal left optic nerve, suggesting the existence of an inflammatory mechanism. A retrospective review of the chart of two others members of the same family, with bilateral optic disc oedema at onset of the vision loss, suggests that the relationship of papilloedema and acute phase of LHON may not be just a coincidence, at least in this family. The visual loss related to LHON could have been triggered in the setting of the chronic papilloedema, associated with the intracranial hypertension.
Lamirel
Cédric
C
Département d'Ophtalmologie, CHU, 4 rue Larrey, F-49033 Angers, France. clamirel@hotmail.com
Cassereau
Julien
J
Cochereau
Isabelle
I
Vignal-Clermont
Catherine
C
Pajot
Olivier
O
Tanguy
Jean-Yves
JY
Zanlonghi
Xavier
X
Reynier
Pascal
P
Amati-Bonneau
Patrizia
P
Dubas
Frédéric
F
Bonneau
Dominique
D
Verny
Christophe
C
D000208:Acute Disease; D001766:Blindness / Q000209:etiology; D002533:Cerebral Angiography; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006801:Humans; D019586:Intracranial Hypertension / Q000473:pathology; D008279:Magnetic Resonance Imaging; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics / Q000473:pathology*; D009900:Optic Nerve / Q000473:pathology*; D010211:Papilledema / Q000473:pathology*; D055815:Young Adult
D004272:DNA, Mitochondrial