Congenital Hereditary Endothelial Dystrophy

A young patient presented with progressive “eye color changes” noted for at least 2 years. Her parents also noted increasing photophobia and her eyes turning inwards for extended periods of time. Her exam was notable for best corrected visual acuity of 20/50 in the right eye and 20/80 in the left eye with corneal edema worse in the left than right eye without obvious stromal suppuration or Descemet break or lesions. Her anterior chambers were deep with flat and reactive irises without any notable atypical findings. Her intraocular pressures were consistently between 10-20 mm Hg in both eyes. Her extraocular movements were full but a small angle esotropia was found concerning for sensory strabismus. On exam under anesthesia, her axial lengths were below 21mm in both eyes and posterior segment looked largely normal, but the corneal haze prevented an accurate retinoscopy in the left eye. The pachymetry was 739mm in the right eye and 854mm in the left eye. There was significant stromal thickening associated with posterior stromal hyperreflectivity and a thickened endothelium on the anterior segment optical coherence tomography of both eyes. This patient was diagnosed with congenital hereditary endothelial dystrophy. Genetic testing revealed a de-novo mutation in the ZNF143 gene of unknown significance. On follow up 2 months later, the patient’s vision worsened to 20/150 with associated worsening edema in the left eye while the right eye exam findings remained stable. Due to decreasing vision and concern for amblyopia, the patient underwent a successful Descemet’s stripping endothelial keratoplasty in the left eye using techniques for visualization including light pipe, trypan blue staining, and stripping under air. At post-operative month 4, after intensive patching, vision improved to 20/70 OS with a clear cornea except for minimal posterior central stromal scarring with improved pachymetry of 575 mm.

Presentation Date: 09/01/2022

Issue Date: 09/09/2022