Clinical characteristics and CLDN19 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; RT, renal transplant; 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;gN, Nystagmus; Ma, Myopia; MC, Macular colobomata; CR, Chorioretinitis; MS, Macular scar.*Families in which segregation of mutations was demonstrated. Both parents were shown to be heterozygous for the respective mutations.