Renal hypomagnesemia 5 with ocular involvement
Renal hypomagnesemia 5 with ocular involvement
Definition
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.
Also known as FHHNC with severe ocular involvement, FHHNCOI, hypercalciuria-bilateral macular coloboma syndrome, Meier-Blumberg-Imahorn syndrome — per MONDO