1. OCULAR MANIFESTATIONS OF PORETTI-BOLTSHAUSER SYNDROME: FINDINGS FROM MULTIMODAL IMAGING AND ELECTROPHYSIOLOG

    OCULAR MANIFESTATIONS OF PORETTI-BOLTSHAUSER SYNDROME: FINDINGS FROM MULTIMODAL IMAGING AND ELECTROPHYSIOLOG

    Background/Purpose: Poretti-Boltshauser syndrome is a rare, nonprogressive neurologic syndrome with characteristic cerebellar cysts on neuroimaging due to mutations in LAMA1 . The ophthalmic findings in Poretti-Boltshauser syndrome are not well described. Here, we report the ophthalmic findings from multimodal imaging and electrophysiology of a patient with genetically confirmed Poretti-Boltshauser syndrome . Methods: A 3-year-old boy with confirmed mutations in LAMA1 underwent examination under anesthesia with electroretinography and multimodal imaging including fundus photography, fluorescein angiography , optical coherence tomography , and optical coherence tomography angiography . Results: Dilated fundus examination was notable for retinal vascular anomalies, including a large area of nonperfusion in the temporal ...

    Read Full Article

    Login to comment.

  1. Categories

    1. Applications:

      Art, Cardiology, Dentistry, Dermatology, Developmental Biology, Gastroenterology, Gynecology, Microscopy, NDE/NDT, Neurology, Oncology, Ophthalmology, Other Non-Medical, Otolaryngology, Pulmonology, Urology
    2. Business News:

      Acquisition, Clinical Trials, Funding, Other Business News, Partnership, Patents
    3. Technology:

      Broadband Sources, Probes, Tunable Sources
    4. Miscellaneous:

      Jobs & Studentships, Student Theses, Textbooks
  2. Topics Mentioned

  3. Authors