Acquired macular atrophy leads to the correct diagnosis of CLDN19-related disease in a child with nephropathy.

Biallellic CLDN19 pathogenic variants cause syndromic macular atrophy or pseudocoloboma (familial hypomagnesemia with hypercalciuria and nephrocalcinosis). Macular atrophic lesions in children with CLDN19-related disease have been reported as stable over follow-up, although it remains unclear whether they are congenital or acquired (developmental). This report highlights the case of an infant with nephropathy and high myopia for whom acquired macular atrophy redirected genetic studies and led to the diagnosis of CLDN19-related disease.