Manifestation of the Rare Eye Disease, MacTel (IMAGE)

University of Utah Health

Manifestation of the Rare Eye Disease, MacTel

Caption

Multimodal imaging of three members of a family enrolled in the Utah Center for MacTel Genetics is shown. Patient one shows signs of advanced MacTel in all imaging modalities; this is evident in the FLIO image by the blue center ring. Patient two, his sister, carries the gene mutation for MacTel but her clinical imaging is unremarkable; her FLIO image is the only modality that shows early signs of MacTel (blue ring, see arrow). Patient three, another sister, does not carry the MacTel gene mutation, and her imaging is normal.

Credit

Lydia Sauer, MD

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