Summary of clinical findings and patient genotypes
| Family | Patient | Status | Age (years) | Visual acuity OD-OS | Photopic (cone) ERG | Sequence variants | |
|---|---|---|---|---|---|---|---|
| CNGA3 | CNGB3 | ||||||
| *Substitutions at non-conserved residues that are unlikely to be disease associated (see text). | |||||||
| Family 12 has additional 5′UTR and Asn27Ser mutations in CNGB3 as discussed in the Results section. | |||||||
| N, normal; A, affected individuals. | |||||||
| 1 | RM1 | A | 10 | 6/60–6/60 | Absent | 1148delC/595delG | |
| RM2 | A | 8 | 3/60–3/60 | Absent | 1148delC/595delG | ||
| RM3 | N | 28 | – | – | 1148delC/+ | ||
| RM4 | N | 26 | 6/6–6/6 | – | 595delG/+ | ||
| 2 | RM5 | A | 38 | 6/60–6/60 | Absent | 1148delC/1148delC | |
| 3 | RM6 | A | 39 | 6/60–3/60 | Absent | Arg223Trp/? | |
| RM7 | A | 28 | 6/60–6/60 | Absent | Arg223Trp/? | ||
| 4 | RM8 | A | 16 | 6/60–6/60 | Absent | Thr245Met/?* | |
| RM9 | N | 43 | – | – | Thr245Met/+ | ||
| 5 | RM10 | A | 44 | 3/60–3/60 | Absent | 1148delC/? | |
| RM11 | N | 70 | – | – | 1148delC/+ | ||
| 6 | RM12 | A | 15 | 6/36–6/36 | Absent | Gly548Arg/Gly548Arg | |
| 7 | RM13 | A | 9 | 3/60–3/60 | Absent | Arg23Stop/Arg23Stop | |
| RM14 | N | 37 | 6/6–6/6 | – | Arg23Stop/+ | ||
| RM15 | N | 52 | 6/6–6/6 | – | Arg23Stop/+ | ||
| 8 | RM16 | A | 19 | 6/60–6/60 | Absent | Gln196Stop/Gln196Stop | |
| RM17 | N | 40 | – | – | Gln196Stop/+ | ||
| 9 | RM18 | A | 26 | 6/36–6/36 | Absent | 1443insC/Arg569His | |
| 10 | RM19 | A | 19 | 6/36–6/36 | Absent | Arg221Stop/Arg221Stop | |
| 11 | RM20 | A | 14 | 6/60–6/60 | Absent | 1148delC/1148delC | |
| RM21 | A | 20 | 6/60–6/60 | Absent | 1148delC/1148delC | ||
| RM22 | N | 50 | – | – | 1148delC/+ | ||
| RM23 | N | 55 | – | – | 1148delC/+ | ||
| 12 | RM24 | A | 12 | 3/60–3/60 | Absent | Arg436Trp/? | |
| RM25 | N | 43 | 6/6–6/6 | – | Arg436Trp/+ | ||
| RM26 | N | 40 | – | – | +/? | ||
| 13 | RM27 | A | 34 | 6/36–6/36 | Absent | Phe525Asn/Phe525 Asn | |
| RM28 | A | 36 | 6/36–6/36 | Absent | Phe525Asn/Phe525 Asn | ||
| RM29 | N | 61 | – | – | Phe525Asn/+ | ||
| RM30 | N | 59 | – | – | Phe525Asn/+ | ||
| 14 | RM28 | A | 5 | 6/60–6/60 | Absent | 1148delC/1148delC | |
| 15 | RM29 | A | 6 | 6/60–6/60 | Absent | Phe547Leu/Phe547Leu | |
| 16 | RM30 | A | 2 | 6/60–6/60 | Absent | 1148delC/1148delC | |
| 17 | RM31 | A | 24 | 6/60–6/60 | Absent | 1148delC/1148delC | |
| 18 | RM32 | A | 5 | 6/60–6/60 | Absent | Phe547Leu/Phe547Leu | |
| 19 | RM33 | A | 12 | 6/60–6/60 | Absent | Ile307Val/?* | |
| RM34 | N | 30 | – | – | Ile307Val/+ | ||
| 20 | RM35 | A | 12 | 6/60–3/60 | Absent | No mutations detected | |
| 21 | RM36 | A | 32 | 6/60–6/60 | Absent | No mutations detected | |
| 22 | RM37 | A | 41 | 6/60–6/60 | Absent | No CNGA3 or CNGB3 mutations detected. | |
| RM38 | A | 20 | 6/60–6/60 | Absent | GNAT2 mutation identified.10 | ||
| RM39 | N | 33 | 6/6–6/6 | – | |||