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Article Synopsis
  • Pathogenic variants in the CLDN19 gene lead to Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC), which also includes eye-related issues.
  • A 25-year-old woman with FHHNC showed significant renal involvement and various eye problems, including high myopia and atrophic retinal plaques, alongside genetic testing that revealed a specific mutation in the CLDN19 gene.
  • The study suggests that FHHNC is linked to diverse ocular changes, and the described retinal issues in this patient may indicate a more favorable visual outlook than previously documented, highlighting the need for more research in this area.
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