Table 1 of
Jones, Mol Vis 2017; 23:470-481. Table 1 of
Jones, Mol Vis 2017; 23:470-481.
Table 1. Clinical Characteristics and Genotypes of 3 families with multi-allelic inherited retinal dystrophy.
| Subject ID | Age | Sex | Acuity | Gene | mRNA ID, Protein ID | Allele 1 | Allele 2 | Phenotype |
|---|---|---|---|---|---|---|---|---|
| FAM1–2334 | 33 | F | 20/50 OD 20/60 OS | USH2A RP1 | NM_206933.2, NP_996816.2 NM_006269.1, NP_006260.1 | c.2029C>T, p.Cys419Phe Wild-type | c.2299delG, p.Glu767Serfs*21 Wild-type | RP with sensorineural hearing loss |
| FAM1–5908 | 68 | F | 20/20 OU | USH2A RP1 | NM_206933.2, NP_996816.2 NM_006269.1, NP_006260.1 | c.2029C>T, p.Cys419Phe Wild-type | Wild-type Wild-type | Unaffected |
| FAM1–10295 | 80 | M | NA | USH2A RP1 | NM_206933.2, NP_996816.2 NM_006269.1, NP_006260.1 | Wild-type c.2029C>T, p,Arg677Ter | Wild-type Wild-type | RP |
| FAM1–10347 | 54 | M | NA | USH2A RP1 | NM_206933.2, NP_996816.2 NM_006269.1, NP_006260.1 | Wild-type c.2029C>T, p,Arg677Ter | Wild-type Wild-type | RP |
| FAM2–8438 | 23 | F | 20/25 OU | PRPH2 PRPF8 USH2A | NM_000322.4, NP_00313.2 NM_006445.3, NP_006436.3 NM_206933.2, NP_996816.2 | Wild-type Wild-type c.2299delG, p.Glu767Serfs*21 | Wild-type Wild-type c.10342G>A, p.Glu3448Lys | RP |
| FAM2–10228 | 24 | F | 20/32 OD 20/40 OS | PRPH2 PRPF8 USH2A | NM_000322.4, NP_00313.2 NM_006445.3, NP_006436.3 NM_206933.2, NP_996816.2 | c.610T>C, p.Tyr204His c.5792C>T, p.Thr1931Met c.2299delG, p.Glu767Serfs*21 | Wild-type Wild-type Wild-type | RP |
| FAM2–10524 | 53 | F | 20/200 OD 20/400 OS | PRPH2 PRPF8 USH2A | NM_000322.4, NP_00313.2 NM_006445.3, NP_006436.3 NM_206933.2, NP_996816.22 | Wild-type c.5792C>T, p.Thr1931Met c.2299delG, p.Glu767Serfs*21 | Wild-type Wild-type Wild-type | RP |
| FAM2–9959 | 48 | F | 20/20 OD 20/25 OS | PRPH2 PRPF8 USH2A | NM_000322.4, NP_00313.2 NM_006445.3, NP_006436.3 NM_206933.2, NP_996816.2 | Wild-type Wild-type c.2299delG, p.Glu767Serfs*21 | Wild-type Wild-type Wild-type | Unaffected |
| FAM3–5250 | 32 | F | 20/500 OU | PRPH2 CRX | NM_000322.4, NP_00313.2 NM_000554.5, NP_000545.1 | c.647C>T, p.Pro216Leu del exons 3–4 | Wild-type Wild-type | Cone-rod dystrophy |
| FAM3–11704 | 4 | F | 20/20 OD 20/20 OS | PRPH2 CRX | NM_000322.4, NP_00313.2 NM_000554.5, NP_000545.1 | c.647C>T, p.Pro216Leu Wild-type | Wild-type Wild-type | Asymptomatic at ophthalmic exam |
| FAM3–10396 | 8 | M | 20/60 OD 20/25 OS | PRPH2 CRX | NM_000322.4, NP_00313.2 NM_000554.5, NP_000545.1 | Wild-type del exons 3–4 | Wild-type Wild-type | Cone-rod dystrophy |
| FAM3–10397 | 3 | F | 20/32 OD 20/32 OS | PRPH2 CRX | NM_000322.4, NP_00313.2 NM_000554.5, NP_000545.1 | c.647C>T, p.Pro216Leu del exons 3–4 | Wild-type Wild-type | Cone-rod dystrophy |
| FAM3–10398 | 6 | F | NA | PRPH2 CRX | NM_000322.4, NP_00313.2 NM_000554.5, NP_000545.1 | Wild-type del exons 3–4 | Wild-type Wild-type | No vision evaluation |
| FAM3–6275 | 54 | M | 20/20 OU | PRPH2 CRX | NM_000322.4, NP_00313.2 NM_000554.5, NP_000545.1 | c.647C>T, p.Pro216Leu Wild-type | Wild-type Wild-type | RP |
| FAM3–9566 | 59 | F | 20/32 OD 20/50 OS | PRPH2 CRX | NM_000322.4, NP_00313.2 NM_000554.5, NP_000545.1 | c.647C>T, p.Pro216Leu Wild-type | Wild-type Wild-type | RP |
| FAM3–6121 | 76 | M | 20/25 OD 20/40 OS | PRPH2 CRX | NM_000322.4, NP_00313.2 NM_000554.5, NP_000545.1 | c.647C>T, p.Pro216Leu Wild-type | Wild-type Wild-type | RP |
| FAM3–6173 | 50 | M | 20/20 OD 20/20 OS | PRPH2 CRX | NM_000322.4, NP_00313.2 NM_000554.5, NP_000545.1 | c.647C>T, p.Pro216Leu Wild-type | Wild-type Wild-type | RP |
| FAM3–6248 | 53 | F | 20/20 OD 20/32 OS | PRPH2 CRX | NM_000322.4, NP_00313.2 NM_000554.5, NP_000545.1 | c.647C>T, p.Pro216Leu Wild-type | Wild-type Wild-type | RP |