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.
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