Table 1.
Clinical characteristics of 36 patients with optical gaps
| ID | Age/Sex | Diagnosis | Gene | Variant | Age of Onset | BCVA (OD, OS) | Symmetry |
|---|---|---|---|---|---|---|---|
| P1 | 26/M | Stargardt | ABCA4 | c.4139C>T:p.Pro1380Leu, c.5882G>A:p.Gly1961Glu |
20 | 20/60, 20/60 | Y |
| P2 | 26/F | Stargardt | ABCA4 | c.1622T>C:p.Leu541Pro, c.5882G>A:p.Gly1961Glu |
24 | N/A | Y |
| P3 †,§ | 26/F | Stargardt | ABCA4 | c.1622T>C:p.Leu541Pro, c.5882G>A:p.Gly1961Glu |
18 | 20/250, 20/250 | N |
| P4 †,§ | 23/F | Stargardt | ABCA4 | c.1622T>C:p.Leu541Pro, c.5882G>A:p.Gly1961Glu |
15 | 20/80, 20/80 | N |
| P5§ | 25/F | Stargardt | ABCA4 | c.286A>G:p.Asn96Asp, c.5882G>A:p.Gly1961Glu |
24 | 20/40, 20/30 | N |
| P6§ | 27/F | Stargardt | ABCA4 | c.5882G>A:p.Gly1961Glu, c.6448T>C:p.Cys2150Arg |
15 | 20/150, 20/150 | Y |
| P7§ | 23/M | Stargardt | ABCA4 | c.5882G>A:p.Gly1961Glu, c.5318C>T:p.Ala1773Val |
22 | 20/40, 20/30 | Y |
| P8§ | 23/F | Stargardt | ABCA4 | c.4139C>T:p.Pro1380Leu, c.5882G>A:p.Gly1961Glu |
18 | 20/40, 20/30 | Y |
| P9 | 23/M | Stargardt | ABCA4 | c.1622T>C:p.Leu541Pro, c.5882G>A:p.Gly1961Glu |
23 | N/A | N |
| P10 | 25/F | Stargardt | ABCA4 | c.5882G>A:p.Gly1961Glu, c.5196+1056A>G |
21 | 20/50, 20/100 | Y |
| P11§ | 13/M | Stargardt | ABCA4 | c.2461T>A:p.Trp821Arg, c.6448T>C:p.Cys2150Arg |
11 | 20/150, 20/200 | Y |
| P12 | 26/M | Stargardt | ABCA4 | c.3065A>G:p.Glu1022Gly, c.5882G>A:p.Gly1961Glu |
26 | 20/30, 20/30 | 3 |
| P13* | 30/M | Achromatopsia | CNGA3 | c.1391T>G:p.Leu464Arg, c.1621C>A:p.Leu541Phe |
25 | 20/125, 20/125 | Y |
| P14* | 63/M | Achromatopsia | CNGA3 | c.829C>T p.Arg277Cys, c.847C>T:p.Arg283Trp |
N/A | 20/150, 20/150 | Y |
| P15 | 45/F | Achromatopsia | CNGA3 | c.1702G>A:p.Gly568Arg, c.1823T>A: p.Leu608Gln |
Childhood | 20/100, 20/100 | Y |
| P16* | 34/M | Achromatopsia | CNGA3 | c.830G>A:p.Arg277His, c.1070A>G:p.Tyr357Cys |
N/A | 20/100, 20/150 | Y |
| P17* | 23/M | Achromatopsia | CNGA3 | c.1391T>G:p.Leu464Arg, c.1641C>A:p.Phe547Leu |
1.5 | 20/50, 20/50 | Y |
| P18 | 47/M | Achromatopsia | CNGA3 | c.1669G>A:p.Gly557Arg, c.667C>G:p.Arg223Gly |
5 | 20/150, 20/125 | Y |
| P19* | 32/M | Achromatopsia | CNGB3 | c.1432C>T p.Arg478Ter, c.1432C>T p.Arg478Ter |
23 | 20/160, 20/200 | Y |
| P20* | 46/F | Achromatopsia | CNGB3 | c.1056–3C>G het | Childhood | 20/80, 20/80 | Y |
| P21†, ‡ |
12/F | Achromatopsia | ATF6 | c.970C>T:p.Arg324Cys, c.970C>T:p.Arg324Cys |
6 | 20/200, 20/200 | Y |
| P22 †,‡ | 23/M | Achromatopsia | ATF6 | c.970C>T:p.Arg324Cys, c.970C>T:p.Arg324Cys |
18 | 20/63, 20/100 | Y |
| P23 †,‡ | 18/F | Achromatopsia | ATF6 | c.970C>T:p.Arg324Cys, c.970C>T:p.Arg324Cys |
12 | 20/100, 20/63 | Y |
| P24 | 32/M | Achromatopsia | PDE6C | c.1759T>C:p.Tyr587His, c.1759T>C:p.Tyr587His |
Childhood | 20/100, 20/150 | Y |
| P25 | 56/F | Occult Macular Dystrophy | RP1L1 | c.133C>T:p.Arg45Trp, c.449C>T:p.Thr150Ile |
51 | 20/100, 20/125 | Y |
| P26 | 65/M | Occult Macular Dystrophy | RP1L1 | c.133C>T:p.Arg45Trp | 49 | 20/70, 20/60 | Y |
| P27† | 25/M | Occult Macular Dystrophy | RP1L1 | c.133C>T:p.Arg45Trp | N/A | N/A | Y |
| P28† | 23/M | Occult Macular Dystrophy | RP1L1 | c.133C>T:p.Arg45Trp | 12 | 20/80, 20/80 | Y |
| P29 | 43/F | Occult Macular Dystrophy | RP1L1 | c.133C>T:p.Arg45Trp | 33 | 20/60, 20/60 | Y |
| P30 | 77/F | Cone Dystrophy | GUCA1A | c.526C>T:p.Leu176Phe | 45 | 20/125, 20/200 | N |
| P31 | 66/M | Macular Dystrophy | GUCY2D | c.2516C>T:Thr839Met | 64 | 20/100, 20/80 | Y |
| P32 | 24/F | Cone Dystrophy | GUCY2D | c.2513G>A:p.Arg838His | 24 | N/A | N |
| P33 | 49/F | Macular Dystrophy | PRPH2 | c.424C<T:p.Arg142Trp | Childhood | 20/50, 20/50 | Y |
| P34 | 56/F | Macular Dystrophy | PRPH2 | c.514C>T p.Arg172Trp | 56 | 20/60, 20/60 | Y |
| P35 | 41/M | Cone Dystrophy | RAB28 | c.136G>C:p.Gly46Arg, c.70G>C: p.Gly24Arg |
42 | 20/70, 20/70 | N |
| P36 | 51/F | Cone Dystrophy | PITPNM3 | c.227_229del:p.Gly76del | 45 | 20/80, 20/CF | N |
BCVA – best corrected visual acuity, OD – right eye, OS – left eye, N/A – not available
†-
sibling pairs: P3 & P4 and P21, P22, & P23 and P27 & P28
§-
Subject previously reported by Noupuu et al.
*
Subject previously reported by Greenberg et al.
‡
Subject previously reported by Kohl et al