hypomagnesemia renal with ocular involvement
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Genetics
- associated with defects in CLDN19
Clinical manifestations
- progressive renal disease characterized by primary renal Mg+2 wasting with hypomagnesemia, hypercalciuria & nephrocalcinosis
- associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, myopia & nystagmus
- the renal phenotype is virtually undistinguishable from that of patients with HOMG3 with proven CLDN16 mutations
Laboratory
- serum magnesium: hypomagnesemia
- 24 hour urine calcium: hypercalciuria
- serum calcium generally normal