CFH and inherited retinal dystrophy: Subsequently, each was recruited to the United Kingdom Inherited Retinal Dystrophy Consortium study, and whole-exome sequencing was conducted on DNA from the affected sibling pair of family A (A:II.1 and A:II.3), the proband of family B (B:II.2), and the affected mother (E.II.2) and son (E.I.1) of family E. In each family, an ultrarare (MAF, <0.0001) or novel heterozygous CFH variant was identified as the probable cause of disease (Table 1).