Table 1.
Summary of Demographic, Clinical and Genetic Data
| Patient | Eye | Sex | Age | Ethnicity | Inheritance | BCVA OD (Snellen) |
BCVA OS (Snellen) |
Gene | Mutation 1 | Mutation 2 | Mutation 3 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | OU | F | 15 | Caucasian | AR | 20/20 | 20/20 | ||||
| 2 | OU | F | 28 | Caucasian | AR | 20/20 | 20/20 | ||||
| 3 | OU | F | 54 | Caucasian | AR | 20/20 | 20/20 | ||||
| 4 | OU | M | 21 | Caucasian | AR | 20/40 | 20/40 | USH2A | p.T1238R | p.C3153* | |
| 5 | OD | M | 52 | Caucasian | AD | 20/30 | HM | RHO | D190N | ||
| 6† | OU | F | 25 | Hispanic | AR | 20/25 | 20/30 | CNGB1 | p.F1051Lfs*12 | p.F1051Lfs*12 | |
| 7 | OU | F | 53 | Caucasian | AR | 20/30 | 20/50 | ||||
| 8 | OS | M | 37 | Caucasian | AD | 20/50 | 20/25 | ||||
| 9 | OS | M | 7 | Hispanic | AR | 20/50 | 20/30 | ||||
| 10 | OU | F | 11 | Hispanic | AR | 20/25 | 20/25 | ||||
| 11 | OU | M | 59 | Caucasian | AD | 20/25 | 20/25 | RP1 | c.2285_2289delTAAAT | ||
| 12 | OU | M | 50 | Caucasian | AD | 20/20 | 20/20 | ||||
| 13 | OU | M | 22 | Caucasian | AR | 20/25 | 20/20 | ||||
| 14 | OD | M | 32 | Indian | AR | 20/30 | 20/20 | KIAA1549 | p.Y120A | p.S642L | |
| 15 | OD | F | 33 | Caucasian | AR | 20/20 | 20/20 | ||||
| 16 | OU | F | 16 | Caucasian | AD | 20/20 | 20/20 | RHO | c.937-27_-19delCCCTGACTC | ||
| 17 | OU | M | 20 | Hispanic | AR | 20/25 | 20/25 | ||||
| 18 | OD | F | 31 | Asian | AD | 20/20 | 20/20 | ||||
| 19 | OU | M | 33 | Hispanic | AR | 20/20 | 20/20 | ||||
| 20 | OU | F | 32 | Asian | AR | 20/25 | 20/20 | ||||
| 21 | OU | M | 56 | Caucasian | AD | 20/20 | 20/25 | ||||
| 22 | OD | M | 21 | Caucasian | AR | 20/25 | 20/40 | GPR98 | p.Q2301* | p.Q2301* | |
| 23 | OU | M | 68 | Caucasian | AR | 20/20 | 20/20 | ||||
| 24 | OU | M | 38 | Caucasian | AD | 20/20 | 20/20 | ||||
| 25 | OU | M | 29 | Caucasian | AD | 20/20 | 20/25 | RP1 | p.R667* | ||
| 26 | OU | F | 18 | Caucasian | AD | 20/25 | 20/25 | PRPF31 | p.L128* | ||
| 27 | OS | F | 38 | Caucasian | unknown | 20/25 | 20/25 | ||||
| 28 | OU | M | 61 | Caucasian | AD | 20/20 | 20/20 | ||||
| 29 | OU | M | 30 | Caucasian | XL | 20/30 | 20/40 | RPGR | p.Q732RfsX83 | ||
| 30 | OU | M | 13 | Caucasian | XL | 20/30 | 20/30 | RPGR | p.G436D | ||
| 31 | OU | M | 14 | Caucasian | AD | 20/30 | 20/40 | ||||
| 32† | OU | M | 22 | Hispanic | AR | 20/25 | 20/25 | CNGB1 | p.F1051Lfs*12 | p.F1051Lfs*12 | |
| 33 | OU | M | 57 | Caucasian | AR | 20/25 | 20/50 | USH2A | |||
| 34 | OU | M | 64 | Caucasian | unknown | 20/20 | 20/20 | ||||
| 35 | OU | M | 51 | Asian | AR | 20/20 | 20/20 | EYS | p.L2671Y | p.C2139Y | p.S547Rfs |
| 36 | OU | F | 31 | Caucasian | AR | 20/40 | 20/40 | RGR | p.S66R | p.S66R | |
| 37 | OU | F | 57 | Caucasian | AR | 20/20 | 20/20 | ||||
| 38 | OU | M | 16 | Indian | XL | 20/25 | 20/40 | RPGR | p.G68R | ||
| 39 | OU | F | 77 | Caucasian | AR | 20/25 | 20/30 | ||||
| 40 | OD | M | 43 | Caucasian | AD | 20/50 | 20/63 | ||||
| 41 | OU | M | 15 | Caucasian | AD | 20/20 | 20/20 | ||||
| 42 | OU | M | 19 | Caucasian | AD | 20/20 | 20/20 | ||||
| 43 | OU | F | 32 | Asian | AR | 20/20 | 20/20 | ||||
| 44 | OU | M | 44 | Hispanic | XL | 20/80 | 20/63 | RPGR | c.2236_2237delAG | ||
| 45 | OU | M | 30 | Caucasian | AR | 20/30 | 20/25 | ||||
| 46 | OU | M | 37 | Hispanic | AR | 20/50 | 20/40 | PDE6A | p.R102C | p.S303C | |
| 47 | OD | F | 11 | African American | AR | 20/30 | 20/25 | ||||
| 48 | OD | F | 53 | Caucasian | AD | 20/40 | 20/40 | RP1L1 | c.5334_5335delAC | ||
| 49 | OU | M | 75 | Caucasian | AD | 20/50 | 20/40 | RHO | p.G106R | ||
| 50 | OU | F | 28 | Caucasian | AR | 20/50 | 20/80 | FAM161B | p.V707YfsX9 | * | |
| 51 | OU | F | 35 | Caucasian | AD | 20/30 | 20/25 | KLHL7 | p.N145Y | ||
| 52 | OU | F | 49 | Caucasian | AR | 20/63 | 20/80 | ||||
| 53 | OU | F | 31 | Caucasian | unknown | 20/20 | 20/20 | ||||
| 54 | OU | M | 46 | Asian | AR | 20/50 | 20/20 | ||||
| 55 | OU | F | 19 | Caucasian | AR | 20/25 | 20/25 | ||||
| 56 | OU | F | 43 | Caucasian | unknown | 20/20 | 20/20 | ||||
| 57 | OU | F | 58 | Caucasian | AR | 20/50 | 20/160 | ||||
| 58 | OU | F | 36 | Caucasian | AD | 20/30 | 20/25 | RHO | p.R135I | p.R135R | |
| 59 | OU | M | 38 | Caucasian | unknown | 20/40 | 20/40 | ||||
| 60 | OU | M | 43 | Hispanic | AD | 20/50 | 20/20 |
BCVA, best corrected visual acuity; OD, right eye; OS, left eye; AD, autosomal dominant; AR, autosomal recessive: XL, X-linked,
*
indicates stop codon.
†
denotes sibling pair: P6 and P23