hypomagnesemia renal with ocular involvement
hypomagnesemia renal with ocular involvement
A progressive nephropathy characterised by renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis, and severe ocular defects—e.g., bilateral chorioretinal scars, macular colobomata, myopia and nystagmus.Molecular pathology
CLDN19 mutations cause HOMGO.