ID | Age (years) | Onset (years) | Sex | BCVA OD logMAR | BCVA OS logMAR | Fishman STGD classification | Mutation 1 | Mutation 2 | Mutation 3 |
1* | 40 | 10 | F | 2 | 2 | 1 | c.5196+2T>C (Splice) | c.5882G>A (p.Gly1961Glu) | |
2 | 23 | 15 | F | 2 | 2 | 1 | c.2041C>T (p.Arg681Xaa (het.)) | c.5882G>A (p.Gly1961Glu) | |
3 | 23 | 17 | F | 1.3 | 1 | 1 | c.1622T>C (p.Leu541Pro) | c.3113C>T (p.Ala1038Val) | c.5882G>A (p.Gly1961Glu) |
4 | 27 | 23 | M | 1 | 1 | 1 | c.4462T>C (p.Cys1488Arg) | c.5882G>A (p.Gly1961Glu) | |
5 | 28 | 24 | F | 1 | 1 | 1 | c.2588G>C (p.Gly863Ala, Splice) | c.2828G>A (p.Arg943Gln) | c.5603A>T (p.Asn1868Ile) |
6 | 39 | 31 | M | 1.3 | 1 | 1 | c.5461-10T>C (Unknown) | c.5882G>A (p.Gly1961Glu) | |
7 | 37 | 36 | F | 0.3 | 0.1 | 1 | c.3322C>T (p.Arg1108Cys) | c.5882G>A (pGly1961Glu) | |
8 | 52 | 42 | F | 1 | 1 | 1 | c.2894A>G (p.Asn965Ser) | c.5882G>A (p.Gly1961Glu) | |
9 | 49 | 48 | M | 0.3 | 0.1 | 1 | c.2588G>C (p.Gly863Ala) | c.2588G>C (p.Gly863Ala) | |
10 | 22 | 13 | M | 1 | 1 | 1 | c.3322C>T (p.Arg1108Cys) | c.5882G>A (p.Gly1961Ala) | |
11 | 25 | 14 | M | 1 | 1 | 1 | c.5882G>A (p.Gly1961Glu) | c.6238_6239delTC (p.Ser2080HisfsX16) | |
12† | 18 | 9 | M | 1.3 | 1 | 2 | c.2588G>C (p.Gly863Ala, Splice) | c.6238_6239delTC (p.Ser2080HisfsX16) | |
13† | 23 | 14 | F | 1.3 | 1.3 | 2 | c.2588G>C (p.Gly863Ala, Splice) | c.6238_6239delTC (p.Ser2080HisfsX16) | |
14 | 23 | 21 | M | 0.6 | 0.6 | 2 | c.2588G>C (p.Gly863Ala, Splice) | c.858+2T>A (Unknown) | |
15 | 28 | 19 | F | 2 | 2 | 3 | c.1622T>C (p.Leu541Pro) | c.3113C>T (p.Ala1038Val) | |
16* | 51 | 22 | M | 1.2 | 1.1 | 3 | c.5196+2T>C (Splice) | c.5882G>A (p.Gly1961Glu) | |
17 | 40 | 23 | F | 0.9 | 0.9 | 3 | c.5413A>G (p.Asn1805Asp) | c.5714+5G>A (Unknown) | |
18* | 57 | 27 | F | 0.9 | 0.8 | 3 | c.5196+2T>C (Splice) | c.5882G>A (p.Gly1961Glu) | |
19 | 74 | 27 | M | 1.3 | 1.3 | 3 | c.5882G>A (p.Gly1961Glu) | Deletion exon 18–19 | |
20 | 30 | 27 | M | 1.3 | 1.3 | 3 | c.1622T>C (p.Leu541Pro) | c.3113C>T (p.Ala1038Val) | |
21 | 52 | 25 | F | 1.3 | 1.3 | 3 | c.2692G>T (p.Glu898Xaa) | c.5461-10T>C (Unknown) | c.5606C>T (p.Pro1869Leu) |
22 | 59 | 50 | F | −0.1 | 0.1 | 3 | c.4610C>T (Unknown) | c.5461-10T>C (Unknown) | |
23 | 52 | 14 | F | 2.3 | 2.3 | 4 | c.2931G>A (p.Gly978Ser) | c.5714+5G>A (Unknown) |
*Siblings.
†Siblings.
BCVA, best corrected visual acuity; F/M, female/male; OD, right eye (oculus dexter); OS, left eye (oculus sinister); STGD, Stargardt disease.