ID - Gender | Age (Age at diagnosis) | Ethnicity | Variant | Retinal Pigment Migration | CME | BCVA at first visit | BCVA at most recent visit |
---|---|---|---|---|---|---|---|
P1 - M | 68 (45) | Scottish | c.472 T > C: p.(Cys158Arg)* heterozygous | Yes, up to arcades | OS | 20/25, 20/30 | 20/63, 20/32 |
P2 - F | 49 (21) | Irish | c.458C > T: p.(Ala153Val) heterozygous | Yes, up to arcades | None | 20/150, 20/150 | 20/CF @ 2 ft., 20/CF @ 4 ft |
P3 - F | 39 (32) | Korean | c.433A > G: p.(Asn145Asp) heterogyzous | Yes, up to arcades | OU | 20/20, 20/25 | 20/30, 20/30 |
P4 - F | 59 (32) | Caucasian (unspecified) | c.472 T > C: p.(Cys158Arg)* heterozygous [SNRNP200 c.983-8G > A heterozygous] | Yes, up to arcades | OS | 20/50, 20/40 |  |
P5 - F | 39 (33) | Irish | c.433A > T: p.(Asn145Tyr)* heterozygous | Yes, up to arcades | OU | 20/30, 20/30 | 20/40, 20/40 |