Table 1 of
de Freitas Cenachi, Mol Vis 2025; 31:45-54. Table 1 of
de Freitas Cenachi, Mol Vis 2025; 31:45-54.
Table 1. Mutations and clinical features of patients with RPE 65-associated retinal dystrophy.
| Patient | Gender | Genetic variant details | Consanguinity in parents | Age and mode at onset of signals and symptoms | Current age and signals and symptoms | Current Best corrected visual acuity (OD/OS) | Refractive examination (OD/OS) |
|---|---|---|---|---|---|---|---|
| 1 | Male | c.1022T>C; p.(Leu341Ser) | No | 3 months of life; Nystagmus and difficulty of fixing and following the light | 25 y.o.; Nystagmus, nyctalopia and photophobia | Hand movements; Counting fingers close to the face | +1,50 - 1,00 x 135; +1,50 - 0,50 x 45 |
| 2 | Male | c.1022T>C; p.(Leu341Ser) | No | Since birth; Decreased vision | 8 y.o.; Nyctalopia and Strabismus | 20/63; 20/200 | +1,50 -1,00 x 170; +1,50 -1,50 x 10 |
| 3 | Male | c.1022T>C; p.(Leu341Ser) | No | 1 month of life; Decreased vision | 3 y.o.; Nystagmus and nyctalopia | 20/400; 20/400 | +6,00 -1,00 x 180; +6,00 - 0,50 x180 |
| 4 | Female | c.1022 T>C;p.(Leu341Ser) and c.560G>A;p.(Gly187Glu) | No | Close to 2 Years of life; Decreased vision, light sensibility | 20 y.o.; Light sensibility | 20/250; 20/320 | +2,50 -1,00 x 14; +3,00 -1,75 x 175 |
| 5 | Male | c.370CT>C;p.(Arg124*) and c.1022 T>C;p.(Leu341Ser) | No | 3 Years of life. | 23 y.o. | 20/100; 20/200 | -8,50 -2,00 x 15; -7,50 -1,50 x 165 |
| 6 | Female | c.11+5 G>A and c.1520C>T; p.(Ala507Val) | No | Before 9 year-old; Diminished vision and difficulty with night vision | 12 y.o.; Nyctalopia | 20/60; 20/60 | +0,75 -1,00 x 20; +0,75 -1,00 x 160 |
| 7 | Female | c.271C>T; p. (Arg91Trp) and c.560G>A; p.(Gly187Glu) | No | The third decade; Nyctalopia | 59 y.o.; Nyctalopia | 20/60; 20/60 | -6,00 -1,00 x160; -5,50 -1,00 x165 |