Clinical characteristics and <i>CLDN19</i> mutations of patients with FHHNC with severe ocular defects.

Listed are the means of all available results for each patient. F, female; M, male; ND, not determined; CPD, chronic peritoneal dialysis; +, present; −, absent. aAge at onset of symptoms in years; bIn years; cIn mg/dl; dIn mg/kg per day; eUrinary tract infections; fGFR, ml/min per 1.73 m2; gMa, Myopia; MC, Macular colobomata; CR, Chorioretinitis; H, hypermetropia; MD, macular degeneration; HR, hypopigmented retina; A, astigmatism. *Families in which segregation of mutations was demonstrated. Both parents were shown to be heterozygous for the respective mutations.