https://www.cureus.com/articles/106272-de-novo-pax2-mutation-with-associated-papillorenal-syndrome-a-case-report-and-literature-review-of-penetrance-and-expressivity
We report the ocular findings of a Caucasian female with papillorenal syndrome (PAPRS) from a de novo PAX2 mutation. She presented to our clinic with early-onset end-stage renal disease. Ophthalmologic exam revealed bilateral band keratopathy, abnormal optic …
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