Table 3: Clinical characterization of patients with novel mutations in this study (except EYS).

Patient GeneDNA variantProtein variantDiagnosisAge of onsetAge at examVA_ODVA_OURE_OD
FundusVisual field

1ABCA4c.2593_2594insTp.Y865L fs*20STGD10360.030.01ncncMacular degenerationPeripheral islands

2CRXc.118C>Tp.R40WCORD65700.150.2+1.0+0.75Perimacular RPE atrophy Central scotoma

3PROM1c.1738A>Cp.N580HCD37371.20.3−3.5−3.0Macular degenerationCentral scotoma

4RDS/PRPH2c.346G>Tp.A116SRP10451.21.2ncncPerimacular AF30°
6c.460A>Cp.K154QRP15na0.40.3−8.5−7.0WSA, BS, NVna

7RHOc.302G>Ap.G101ERP10521.21.2+1.0+1.75WSA, BS, NVna
8c.36delCp.P12S fs*35RP62740.80.9ncncWSA30°

9RP11c.523delICp.Q175R fs*23RP16480.60.02+0.25ncWSA, BS, NV10°
10c.1140_114insTCp.G381S fs*33RP18580.50.5+0.5+1.5WSA, BS, NV10°
11c.613_615delTACp.Y205*RP1066HMLPncncWSA, BS, NV10°

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.