Phakic DSAEK in a Child for Endothelial Dystrophy
10-year-old presenting with extreme photosensitivity and vision loss at age 8, diffuse corneal thickening (800 um range) and hearing loss. No response to immunomodulation with Cellcept for suspected Cogan Syndrome. Genetic testing was negative for Harboyan syndrome and other CHED mutations. Serology (IgM) was positive for HSV and she had some transient improvement in light sensitivity and central corneal thickness with topical trifluoridine, but PCR of anterior chamber aspirate was negative for HSV, CMV, VZV, and EBV.
Retinal and optic nerve exam was normal. There were nonspecific globally reduced amplitudes on electroretinogram.
Descemet's stripping was very challenging in surgery, but immunohistochemistry of a small sample of Descemet's membrane showed staining of cytokeratin with A1/3, indicating epithelializationof the endothelium consistent with either bilateral iridocorneal endothelial (ICE) syndrome (bilateral) or posterior polymorphous dystrophy (PPMD).