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  • 1.  POLG2 gene and optic atrophy

    Posted 11-04-2025 12:49

    Greetings all,

     

    I have a 20 year old male with bilateral optic atrophy.  20/20 vision in both eyes with essentially normal VF - referred for "glaucoma" evaluation.  He has minimal complaints. Bilateral disc pallor and loss of NFL on OCT:  45/47 on Circumpapillary scan and 59/60 on ganglion cell OCT. I do not have any old records to say that any of this is new.

     

    I ordered Genedx 615 panel – only thing that came back positive was POLg2 gene autosomal dominant variant c.590 T>C p.(L197P) – heterozygous.

     

    Has anyone seen this particular variant in optic atrophy patient?  Is this significant or is it not related? I am inclined to just follow him given his lack of complaints.

     

    Thanks for your help.

     

    ELB

     

     

    Eric L. Berman, MD

    Dr. William A. and Sandra F. Johnson Endowed Chair in Neuro-Ophthalmology

    Director, Neuro-Ophthalmology Service

    Storm Eye Institute

    Medical University of South Carolina

     



  • 2.  RE: POLG2 gene and optic atrophy

    Posted 11-04-2025 13:17

    Usually the report will indicate if the variant is pathogenic, variant of uncertain significance (VUS), or benign. autosomal dominant POLG and POLG2 pathogenic variants tend to have early onset and more severe mitochondrial presentations including myopathies. POLG and POLG2 are nuclear genes for mitochondrial DNA polymerase so deficits can result in accumulation of mitochondrial DNA mutations.

    Best,


    Drew



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



  • 3.  RE: POLG2 gene and optic atrophy

    Posted 11-04-2025 16:04

    Interestingly, my fellow, Gizem Ulker Yilmazer, has submitted an abstract for presentation consideration at the upcoming NANOS meeting, which describes 2 patients with POLG associated optic neuropathy.  Hopefully, it will be accepted.

     

    Nick Hogan

    UT Southwestern Neuro-Ophthalmology and Ocular Pathology

     


    UT Southwestern

    Medical Center

    The future of medicine, today.



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