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  • 1.  Harding disease?

    Posted yesterday
    Seeking group input: LHON vs "Harding disease" overlap 
    Hi everyone, I'd appreciate input on a case that clinically looks like LHON, but with a few inflammatory/demyelinating features that are raising the question of LHON–MS overlap ("Harding disease").
    A 32-year-old Russian male presented with gradual vision loss over 2-3 months. Began with painful vision loss OD with initial dx with optic neuritis by neurology, treated with steroid with some response per patient. Then he lost vision OS with no pain. MRI brain wnl, MRI cervical spine with small nonenhancing lesion, CSF wnl. Current exam: VA 20/400 OU, sluggish pupil, color 1/11 OU, fundus with classic LHON pattern, temporal pallor+ peripapillary telangiectatic micoangiopathy. His genetic test came back positive for LHON 11778. He also has lost a patch of hair in the front of scalp and was diagnosed with alopecia areata within the last month. No vision loss in his maternal uncle or anyone with vision loss or autoimmune disease in the family.  My working questions for the group
    Does this still fit typical LHON despite the initial pain and steroid responive phase?
    Any treatment advice byond idebenone?
    Any ongoing clinical trial, I can enroll him?
    Thank you
    Nafiseh Hashemi, MD

    16542 Ventura Blvd #515
    Encino, CA 91436
    (818) 387-6565


  • 2.  RE: Harding disease?

    Posted yesterday
    Hello,

    LHON can be triggered by various insults on the optic nerve, and one of
    them is optic neuritis. People harboring an LHON variant may be at risk
    to convert to LHON, when they experience a demyelinating episode in the
    optic nerve.
    For me, this case classifies as LHON and could potentially benefit from
    idebenone.
    Concerning possible MS, perhaps a careful evaluation of the previous MRI
    or re-imaging will help to reach a diagnosis and enable DMT.
    I am not aware of current trials in this specific phenotype.

    Best,
    Berthold


    Original Message


  • 3.  RE: Harding disease?

    Posted yesterday
    Did the original MRI show optic nerve enhancement? Did the OCTs show the expected thinning weeks to months after optic neuritis?

    Many LHON patients will tell you on careful history for the first few months they have good days and bad days until they stop having good days. The "improvement" after steroids might have just been coincidental good days of LHON.

    It doesn't sound like this patient meets diagnostic criteria for MS even with the 2025 revised criteria and the diagnosis of optic neuritis needs substantial corroboration in light of the confirmed LHON.

    Even if this patient goes on to develop MS in the future, he sounds low risk for severe disability with no brain or spinal cord lesions at age 32 and the risks of immunosuppression are likely to outweigh the benefits at this time.

    Best, 

    Drew





    Original Message


  • 4.  RE: Harding disease?

    Posted 12 hours ago
    I wanted to ask about oligoclonal bands in CSF ?



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  • 5.  RE: Harding disease?

    Posted 8 hours ago
    Drew: MRI showed enhancement of right optic nerve, but there is no significant RNFL thinning in OCT, mainly GCL loss
    Sherif: CSF completely normal with no OCB

    Nafiseh Hashemi, MD

    16542 Ventura Blvd #515
    Encino, CA 91436
    (818) 387-6565



    Original Message


  • 6.  RE: Harding disease?

    Posted 7 hours ago
    Enhancement with painful visual loss would suggest optic neuritis , but wondering it may be non-demyelinating optic neuritis - parainfectious -in a case of LHON , double pathology ? Because LHON has response to steroids so , may be pseudo-Harding ?





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