[Hereditary optic atrophies].
BACKGROUND
Hereditary optic neuropathies, resulting from retinal ganglion cell degeneration, are a heterogeneous group of diseases ranging from asymptomatic forms to legal blindness.


BACKGROUND
Two most frequent phenotypes are Kjer's disease, an autosomal dominant optic atrophy caused by OPA1 gene mutations, and Leber's disease due to maternally inherited mitochondrial DNA mutations.
Both optic neuropathies usually isolated are sometimes associated with extraocular symptoms, especially neurological symptoms, thus justifying a systematic neurological evaluation and brain imaging.
Département de neurologie, CHU d'Angers, Angers, France.
C
C
Scherer
V
V
Procaccio
M
M
Ferre
V
V
Guillet
P
P
Reynier
P
P
Amati-Bonneau
F
F
Dubas
D
D
Bonneau
C
C
Verny
D004272:DNA, Mitochondrial / Q000235:genetics; D020558:GTP Phosphohydrolases / Q000235:genetics; D006801:Humans; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics / Q000473:pathology; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics / Q000473:pathology; D012165:Retinal Ganglion Cells / Q000473:pathology
D004272:DNA, Mitochondrial; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human