Section outline

  • Collapse Expand

    General

    Collapse all Expand all
  • Collapse Expand

    Grand Rounds

    A patient with a past ocular history of blurred vision in both eyes presents for formal evaluation. He has past medical history of mild developmental delay, short stature, left hearing loss since birth without use of hearing aid, and recently diagnosed renal hypoplasia with urinary protein leakage, improved after initiation of ramipril and allopurinol therapy. His exam was notable for pinhole visual acuity of 20/30 and 20/50 in the right and left eyes respectively. Intraocular pressure was 18 and 19. Slit lamp exam was grossly unremarkable. Dilated fundus exam was notable for left sided optic nerve hypoplasia with significant myelinated nerve fiber layer, bilateral abnormal retinal vasculature with increased tortuosity in the absence of systemic hypertension, and bilateral macular retinoschisis worse in left than right eye. Wide field fundus photos,,fundus autofluorescence, and OCT of the retina confirmed such findings. Patient had previously undergone molecular genetic testing in Switzerland and was found to be positive for a pathologic variant of PAX2, unifying his ophthalmology and renal findings. He continues on brinzolamide three times a day as previously prescribed by his home ophthalmologists in Geneva, along with the aforementioned oral medications prescribed by his nephrologist.

    Presentation Date: 09/03/2026
    Issue Date: 09/04/2026

    • Presenter: Claire D. Kim, MD URL
    • Faculty Discussant: Jesse Sengillo, MD URL

    • Continuing Medical Education (CME)

    • If you would like to get CME credits (0.25 AMA PRA Category 1 Credits™) for this lecture, please click here

    • Non-CME

    • Please click here if you don't want CME credits.