Table 2 of
Zhang, Mol Vis 2024; 30:175-187. Table 2 of
Zhang, Mol Vis 2024; 30:175-187.
Table 2. The clinical features and follow-up informations of 14 patients with CLN genes.
| Patient ID | Gender | Onset age (year) | Exam age (year) | BCVA LogMAR (OD/OS) | First symptoms | Macular alteration | ERG | Neurobehavioral symptom (onset age, year) | Gene | Variants | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| First | Last | First | Last | I | L | MF | EP | Others | ||||||||
| 067,020 | Male | 0.5 | NA | 3.5 | NA | NA | VL | MA, MS | NA | No | No | No | No | No | PPT1 | p.R164X/p.T94P |
| 010,707* | Male | 7 | NA | 11.5 | NA | 2.3/2.3 | VL, NB | MA, MS | rod:E; cone:SD | 8 | No | No | No | No | PPT1 | p.G113V/p.Q116H |
| 019,953 | Female | 13 | 19.3 | 25.2 | 1.3/1 | 2.7/2.7 | NB, VL | MA, MS | rod:E; cone:SD | 24 | 25 | 25 | No | SB, brain atrophy | PPT1 | p.W8X/p.S199G |
| 019,953-3 | Male | 15 | NA | 15.8 | NA | 0.4/0.4 | RVL, NB | MD, TD | rod:E; cone:SD | No | No | No | No | No | PPT1 | p.W8X/p.S199G |
| 019,309 | Male | 16 | NA | 31.4 | NA | 1/2.3 | NB, VL | MA, MS | NA | No | No | No | No | No | CLN3 | p.S69X/p.R405W |
| 0,191,609 | Female | 8 | 8.8 | 11.2 | 2.3/2.7 | 3.0/2.7 | RVL, NB | MA, MS | E | 11 | 11 | No | No | N&NT, EEG-ab(11) | CLN3 | p.S185P/c.963–13A>G |
| 0,191,730 | Male | 6 | 7.1 | 7.3 | 1.85/1.85 | 1.85/1.85 | RVL | MA, MS | SD | 7 | 7 | No | No | EEG-ab(7) | CLN3 | c.962+1G>A/e15–16del |
| 0,191,773 | Male | 6 | 6.5 | 8.6 | 1/1 | 1.7/1.7 | NB, RVL | BM to MA&MS | E | 7 | 8 | 8 | No | bipolar disorder | CLN3 | p.G280C/p.Y326Lfs*56 |
| 010,769* | Male | 6 | 6.6 | 7.0 | 1.7/1.7 | 2.0/2.0 | RVL, NB | BM to MA&MS | SD | 7 | 7 | No | No | No | CLN3 | p.R334H/c.906+5G>A |
| 010,272* | Male | 6 | 7.3 | 15.3 | 1.22/1.4 | 2.7/2.7 | RVL, NB | MA, MS | SD | 12 | 15 | 15 | 10 | N&NT(5) | CLN3 | p.R334H/c.906+5G>A |
| 010,124* | Male | 6 | NA | 7.3 | NA | 2.3/2.3 | VL, NB | MA, MS | E | No | No | No | No | No | MFSD8 | p.P449Sfs*72/p.A423G |
| 010,421* | Male | 5 | NA | 6 | NA | 1.1/1.1 | RVL, nystagmus | MA, MS | NA | 5 | (#8) | (#10) | 5 | bedridden&CA (#12) | MFSD8 | c.1351–1G>A/p.A464V |
| 010,777* | Female | 8 | 9.1 | 11.0 | 0.4/1 | 1.3/1.3 | VL | BM | SD | No | No | No | No | No | MFSD8 | c.1351–1G>A/p.E336K |
| 010,962* | Male | 13 | 13.5 | 20.4 | 0.82/0.92 | 1.52/1.52 | RVL | MA, MS | NA | No | No | No | No | No | MFSD8 | p.E336K/p.E336K |