[HTML][HTML] Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy

P Heiduschka, S Schnichels… - … & visual science, 2010 - iovs.arvojournals.org
Purpose.: The main disease features of autosomal dominant optic atrophy (ADOA) are a
bilateral reduction of visual acuity, cecocentral scotoma, and frequently tritanopia, which …

[HTML][HTML] Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy

N Fuhrmann, S Schimpf, Y Kamenisch… - Molecular …, 2010 - Springer
Background Up to the 1950s, there was an ongoing debate about the diversity of hereditary
optic neuropathies, in particular as to whether all inherited optic atrophies can be ascribed to …

Les atrophies optiques héréditaires

C Scherer, V Procaccio, M Ferré, V Guillet, P Reynier… - Revue …, 2010 - Elsevier
Résumé Introduction Les atrophies optiques héréditaires forment un groupe hétérogène de
maladies responsables d'une dégénérescence des cellules ganglionnaires de la rétine …

[PDF][PDF] Research article Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy

N Fuhrmann, S Schimpf, Y Kamenisch… - 2010 - molecularneurodegeneration …
Background: Up to the 1950s, there was an ongoing debate about the diversity of hereditary
optic neuropathies, in particular as to whether all inherited optic atrophies can be ascribed to …