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

چکیده

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…

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موضوعات مرتبط

• چشم پزشکی کودکان
• هوش مصنوعی در چشم پزشکی