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Related Experiment Video

Updated: Jul 6, 2026

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

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Published on: September 22, 2017

Reversible optic neuropathy with OPA1 exon 5b mutation.

Karen Cornille¹, Dan Milea, Patrizia Amati-Bonneau

¹Institut National de la Santé et de la Recherche Médicale U583, Institut des Neurosciences de Montpellier, Université de Montpellier I et II, Montpellier, France.

Annals of Neurology

|March 25, 2008

Summary

A novel OPA1 mutation (R247H) in exon 5b caused optic neuropathy with partial visual recovery. This finding expands the known spectrum of OPA1-associated optic neuropathies and suggests spontaneous recovery is possible.

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Area of Science:

Genetics and Molecular Biology
Ophthalmology
Cell Biology

Background:

Optic neuropathies are a group of diseases characterized by damage to the optic nerve, often leading to vision loss.
Mutations in the OPA1 gene are a known cause of dominant optic atrophy, a hereditary optic neuropathy.
The OPA1 gene encodes a mitochondrial dynamin GTPase involved in mitochondrial fusion and maintenance.

Observation:

A patient presented with bilateral optic neuropathy and subsequent partial spontaneous visual recovery.
A novel mutation, c.740G>A (R247H), was identified in the OPA1 gene, specifically within alternate spliced exon 5b.
Fibroblasts from the patient and an unaffected father carrying the R247H mutation exhibited distinct mitochondrial abnormalities.

Findings:

The R247H mutation in OPA1 resulted in a highly tubular mitochondrial network in patient fibroblasts.
Cells with the R247H mutation showed increased susceptibility to apoptosis (programmed cell death).
Oxidative phosphorylation was uncoupled, and the OPA1 protein profile was altered, supporting the mutation's pathogenicity.

Implications:

The clinical spectrum of OPA1-associated optic neuropathies is broader than previously recognized.
The R247H mutation highlights the role of OPA1 exon 5b in optic nerve health.
Spontaneous visual recovery may occur in patients with OPA1-associated optic neuropathies, particularly those with exon 5b mutations.