Related Experiment Video
Updated: Jun 6, 2026

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
Published on: September 22, 2017
[Hereditary optic atrophies]
C Scherer1, V Procaccio, M Ferre
1Département de neurologie, CHU d'Angers, Angers, France.
Introduction:
Hereditary optic neuropathies, resulting from retinal ganglion cell degeneration, are a heterogeneous group of diseases ranging from asymptomatic forms to legal blindness.
State Of Knowledge:
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.
Prospects And Conclusion:
Both optic neuropathies usually isolated are sometimes associated with extraocular symptoms, especially neurological symptoms, thus justifying a systematic neurological evaluation and brain imaging.
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