Table 2. Genotype-phenotype characteristics of families carrying rare CFH variants.

ID	AMD Disease Status	Genotype	CARMS Grade OD	CARMS Grade OS	Drusen Location
Pedigree A (CFH C192F)
III:2	Affected	G/T	4	4	Macula, temporal to the macula
IV:1	Affected	G/T	3B	3B	Macula, temporal to the macula, nasal to the optic disc, along the vascular arcade
IV:2	Affected	G/T	5B	3A	Macula, temporal to the macula
IV:3	Unaffected	G/G	1	1	None
IV:4	Affected	G/T	3B	3B	Macula, temporal to the macula
IV:5	Affected	G/T	3A	5B	Macula, temporal to the macula, along the temporal vascular arcade, superotemporal, inferotemporal, superonasal
IV:6	Affected	G/T	5B	5B	Macula, temporal to the macula
IV:7	Unaffected	G/G	1	1	None
Pedigree B (CFH IVS6+1G>A)
II:1	Affected	G/A	4	4	Macula, temporal to the macula, nasal to the optic disc, along the temporal vascular arcade, superotemporal, superonasal, inferonasal
II:2	Affected	G/A	4	4	Macula, temporal to the macula, nasal to the optic disc, along the temporal vascular arcade, superotemporal
Pedigree C (CFH R175P)
II:1	Affected	G/C	5B	3A	Macula, temporal to the macula, nasal to the optic disc, along the temporal vascular arcade, superotemporal, inferotemporal, superonasal, inferonasal
II:2	Affected	G/C	5B	5B	Macula, temporal to the macula, nasal to the optic disc, along the temporal vascular arcade, superotemporal, inferotemporal, superonasal, inferonasal
Pedigree D (CFH R127H)
II:1	Affected	G/G	5B	5B	Macula, temporal to the macula, nasal to the optic disc, along the temporal vascular arcade, superotemporal, inferotemporal, superonasal
II:2	Affected	G/A	4	4	None
III:1	Affected	G/A	5B	5B	Macula, temporal to the macula, nasal to the optic disc, along the temporal vascular arcade, superotemporal, inferotemporal, superonasal, inferonasal
III:2	Unaffected	G/G	1	1	None

AMD: Age-related macular degeneration; CARMS: Clinical Age-Related Maculopathy Staging²³; OD: right eye; OS: left eye.