Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
M Girón-OrtegaM J Morillo SánchezMarina Soto-SierraM MenaGuillermo AntiñoloM Ramos-JiménezM López-DomínguezEnrique Rodríguez-de-la-Rúa-FranchPublished in: Ophthalmic genetics (2024)
FHHNC is associated with various ocular alterations. The unique retinal disorders described in this article suggest a more favorable visual prognosis compared to those previously reported in the literature. Determining the phenotypic diversity of this disease may aid in the diagnosis and management of future cases.