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