Congenital macular scars in siblings from CLDN19 mutations

J AAPOS. 2021 Oct;25(5):316-318. doi: 10.1016/j.jaapos.2021.05.008. Epub 2021 Aug 20.


We report 2 consecutive siblings who presented with unilateral and bilateral macular scars, respectively (initially presumed in the older sibling to be from congenital toxoplasmosis), who also developed chronic kidney disease. Both underwent genetic testing and were positive for a mutation in CLDN19, confirming the diagnosis of familial hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement. One of our patients had the unique finding of mild foveal hypoplasia, which is not typically associated with CLDN19 mutations.

Publication types

  • Case Reports

MeSH terms

  • Cicatrix / congenital*
  • Claudins* / genetics
  • Eye Diseases, Hereditary / diagnosis*
  • Eye Diseases, Hereditary / genetics
  • Humans
  • Macula Lutea / pathology*
  • Mutation
  • Renal Tubular Transport, Inborn Errors / diagnosis*
  • Renal Tubular Transport, Inborn Errors / genetics
  • Siblings


  • CLDN19 protein, human
  • Claudins

Supplementary concepts

  • Hypomagnesemia 5, Renal, with Ocular Involvement