Phenotypic expansion of KCNJ13- associated snowflake vitreoretinal degeneration.
Noy AshkenazyJesse D SengilloPrashanth G IyerCatherin I NegronNicolas A YannuzziAudina M BerrocalPublished in: Ophthalmic genetics (2022)
This case expands on the spectrum of clinical features in SVD, including retinoschisis and FTMH. It also characterizes optical coherence tomography findings in this rare disease entity. We emphasize the importance of using panel-based genetic testing to clinically distinguish and further define atypical vitreoretinopathies.