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; RT, renal transplant; +, 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. *Families in which segregation of mutations was demonstrated. Both parents were shown to be heterozygous for the respective mutations except in families F7 and F8 in which only the mother’s sample was available.