Table 3.
Clinical characterization of patients with novel mutations in this study (except EYS).
| Patient | Gene | DNA variant | Protein variant | Diagnosis | Age of onset | Age at exam | VA_OD | VA_OU | RE_OD (diopter) |
RE_OU (diopter) |
Fundus | Visual field |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | ABCA4 | c.2593_2594insT | p.Y865L fs*20 | STGD | 10 | 36 | 0.03 | 0.01 | nc | nc | Macular degeneration | Peripheral islands |
|
| ||||||||||||
| 2 | CRX | c.118C>T | p.R40W | CORD | 65 | 70 | 0.15 | 0.2 | +1.0 | +0.75 | Perimacular RPE atrophy | Central scotoma |
|
| ||||||||||||
| 3 | PROM1 | c.1738A>C | p.N580H | CD | 37 | 37 | 1.2 | 0.3 | −3.5 | −3.0 | Macular degeneration | Central scotoma |
|
| ||||||||||||
| 4 | RDS/PRPH2 | c.346G>T | p.A116S | RP | 10 | 45 | 1.2 | 1.2 | nc | nc | Perimacular AF | 30° |
| 5 | c.44A>G | p.K15R | RP | na | na | LP | 0.2 | nc | −2.5 | WSA | 10° | |
| 6 | c.460A>C | p.K154Q | RP | 15 | na | 0.4 | 0.3 | −8.5 | −7.0 | WSA, BS, NV | na | |
|
| ||||||||||||
| 7 | RHO | c.302G>A | p.G101E | RP | 10 | 52 | 1.2 | 1.2 | +1.0 | +1.75 | WSA, BS, NV | na |
| 8 | c.36delC | p.P12S fs*35 | RP | 62 | 74 | 0.8 | 0.9 | nc | nc | WSA | 30° | |
|
| ||||||||||||
| 9 | RP11 | c.523delIC | p.Q175R fs*23 | RP | 16 | 48 | 0.6 | 0.02 | +0.25 | nc | WSA, BS, NV | 10° |
| 10 | c.1140_114insTC | p.G381S fs*33 | RP | 18 | 58 | 0.5 | 0.5 | +0.5 | +1.5 | WSA, BS, NV | 10° | |
| 11 | c.613_615delTAC | p.Y205* | RP | 10 | 66 | HM | LP | nc | nc | WSA, BS, NV | 10° | |
RP11, c.613_615delTAC mutation was found in 6 patients of 2 families.
PROM1, c.1738A>C mutation was found in other 2 RP patients with heterologous EYS and CRB1 alterations (see Table 7).
Patient 6 had antirecoverin Ab.
*Truncating and nonsense variants.
VA: visual acuity.
RE: refractive error.
nc: not correctable.
na: not available.
LP: light perception.
WSA: widespread RPE atrophy.
BS: bone-spickle.
NV: narrow vasculature.
HM: hand motion.