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  • 1.  Bilateral optic atrophy

    Posted 05-05-2025 22:04
      |   view attached

    Hello everyone! 

    I appreciate any thoughts regarding this case. 

    31 year old female with bilateral optic atrophy. She started noticing some blurry vision around January 2025 difficulty reading small prints, seek help a few months later. Exam: 20/70 0D and 20/60 OS with correction, pale optic nerves bilaterally. Visual fields OU with a para central scotoma predominantly temporal. GCL/IPL: 32OD and 64 OS; RNFL103 0D 96OS. Normal MRI of the brain, orbits and spinal cord; all autoimmune labs were negative, including NMO and MOG. 
    no family history of any optic neuropathies. Her genetic test came back positive for mitochondrial DNA mutation. See attachment. 
    Has anyone had experience with this variant? I believe she won't qualify for the genetic therapy. Besides genetic counseling (now she is 6weeks pregnant) and idebenone treatment, any other suggestions? 
    thanks, 

    Helena



    ------------------------------
    Wen Y. Helena Wu-Chen, MD, FAAN
    LGHP Neurology Clerkship Site Director
    LGHP Neurology | Neuro-ophthalmology
    Adjunct Assistant Professor of Neurology, Lewis Katz School of Medicine, Temple University
    Neuroscience Institute
    2150 Harrisburg Pike, Suite 200A
    Office: 717-396-9167 Fax: 717-396-9064
    ------------------------------


  • 2.  RE: Bilateral optic atrophy

    Posted 05-06-2025 08:38

    While I don't have any experience with the MT-ATP6 gene, I certainly have had a number of patients with POLG and optic atrophy. As this can be autosomal dominant, I'm not sure why the report says it "does not establish a molecular diagnosis". In any case, I don't think there's much you can offer, other than the usual mitochondrial disorder advice to avoid tobacco and alcohol, and live a healthy lifestyle.

    Lulu

     

    Lulu Bursztyn

    Comprehensive and neuro-ophthalmology

    Western University, London, Ontario

    lulu.bursztyn@sjhc.london.on.ca

    519-646-6214

     


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  • 3.  RE: Bilateral optic atrophy

    Posted 05-06-2025 10:05

    These sound like fairly small central scotomas, these would be more typical for nuclear optic neuropathy rather than mitochondrial, or toxic / nutritional. Did you do a work-up for toxic and nutritional causes?

    The report states no molecular diagnosis because none of the mitochrondrial or dominant genes are of known pathogenicity.

    mt-ATP6 is usually associated with much more severe phenotypes, most commonly NARP (neuropathy, ataxia, and retinitis pigmentosa) as well as developmental delay and myopathy phenotypes. You'd want to examine family members (mom, maternal grandmother, maternal aunts / uncles, siblings, and children) to see if they manifest any findings.

    POLG is a mitochondrial DNA maintenance gene, so if this was manifesting in a mitochondrial syndrome, you would expect to see large mitochondrial deletions, you may need a muscle biopsy to see this. POLG is often more common to see CPEO rather than isolated optic neuropathy.

    Best,

    Drew



    ------------------------------
    Andrew Carey
    Associate Professor
    Wilmer Eye Institute, Johns Hopkins Medicine
    Baltimore MD
    ------------------------------

    Original Message


  • 4.  RE: Bilateral optic atrophy

    Posted 05-06-2025 10:22
    No experience with the MT-ATP6 gene , all the papers say that it has more systemic implications , does your patient have numbness, tingling, or pain in the arms and legs/ muscle weakness/ataxia?
    With this level of (83%)hetroplasmy- NARP syndrome is seen and more than 90% Leigh kind of presentation . Should do ERG to r/o RP

    LHON like optic neuropathy is also noted, but isolated without systemic involvement with this level of hetroplasmy maybe new. 

    Best
    Shikha

    Dr Shikha Bassi
    Sankara Nethralaya 
    Chennai
    India



    Original Message


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