Hereditary optic neuropathies: from clinical signs to diagnosis

Inherited optic atrophy must be considered when working up any optic nerve involvement and any systemic disease with signs of optic atrophy, even with a negative family history. There are two classical forms: dominant optic atrophy, characterized by insidious, bilateral, slowly progressive visual lo...

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Bibliographic Details
Published inJournal francais d'ophtalmologie Vol. 36; no. 10; p. 886
Main Authors Meunier, I, Lenaers, G, Hamel, C, Defoort-Dhellemmes, S
Format Journal Article
LanguageFrench
Published France 01.12.2013
Subjects
Diagnosis, Differential
Diagnostic Techniques, Ophthalmological
Humans
Optic Atrophies, Hereditary - diagnosis
Optic Atrophies, Hereditary - genetics
Optic Atrophy, Hereditary, Leber - diagnosis
Optic Atrophy, Hereditary, Leber - therapy
Pedigree
Physical Examination
Leber's optic atrophy
Dominant optic atrophy
ADN mitochondrial
Syndrome de Wolfram
Wolfram syndrome
OPA1
Télangiectasies papillaires
Optic nerve head telangiectasias
Mitochondrial DNA
Atrophie optique dominante
Neuropathie optique de Leber
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Summary:Inherited optic atrophy must be considered when working up any optic nerve involvement and any systemic disease with signs of optic atrophy, even with a negative family history. There are two classical forms: dominant optic atrophy, characterized by insidious, bilateral, slowly progressive visual loss and temporal disc pallor, and Leber's optic atrophy, characterized by acute loss of central vision followed by the same event in the fellow eye within a few weeks to months, with disc hyperemia in the acute phase. Family history is critical for diagnosis. In the absence of family history, the clinician must rule out an identifiable acquired cause, i.e. toxic, inflammatory, perinatal injury, traumatic or tumoral, with orbital and brain imaging (MRI). Recessive optic atrophies are more rare and more severe and occur as part of multisystemic disorders, particularly Wolfram syndrome (diabetes mellitus, diabetes insipidus, and hearing loss). Effective treatments are limited; alcohol and smoking should be avoided. A cyclosporine trial (taken immediately upon visual loss in the first eye) is in progress in Leber's optic atrophy to prevent involvement of the fellow eye.
ISSN:1773-0597
DOI:10.1016/j.jfo.2013.05.007