Table 1.
Clinical Information and Genetic Findings of Putative Stargardt Disease Cases
| Sample | Age Sex | Acuity OD Acuity OS | Clinical Notes | ERG Findings | Color vision | ABCA4variants | PRPH2variants | Other variants |
|---|---|---|---|---|---|---|---|---|
| STGD-01 |
19 Male |
20/400 20/160 |
Peripapillary sparing, discrete flecks; nummular atrophy |
Normal rod Abnormal cone |
No testing |
p.N965S p.R2038W |
. |
. |
| STGD-02 |
15 Female |
20/160 20/100 |
Few yellowish Flecks without autofluorescence |
Normal rod Normal cone |
Abnormal |
p.Q636X p.G1961E* |
. |
. |
| STGD-03 |
58 Female |
20/50 20/16 |
No significant atrophy |
Abnormal rod Abnormal cone |
No testing |
. |
p.W25C p.Q276X |
. |
| STGD-04 |
51 Male |
20/20 20/20 |
Peripapillary sparing both eyes; “stellate” pattern |
Abnormal rod Abnormal cone |
Abnormal |
. |
p.G167S |
. |
| STGD-05 |
55 Female |
20/25 20/20 |
Central atrophy with out-branching; "stellate" pattern |
Normal rod Normal cone |
Normal |
. |
p.T236X |
. |
| STGD-06 |
34 Female |
20/200 20/200 |
Classic Stargardt |
Normal rod Abnormal cone |
No testing |
p.V989A |
. |
. |
| STGD-07 |
41 Male |
20/40 20/640 |
Flecks, peripapillary sparing, central geographic atrophy |
Normal rod Abnormal cone |
No testing |
. |
. |
. |
| STGD-08 |
37 Male |
20/40 20/400 |
No peripapillary sparing/flecks; irregular geographic atrophy with RPE changes; thickening on OCT |
Normal rod Normal cone |
Abnormal |
. |
. |
CRB1 p.K801X |
| STGD-09 | 61 Male | 20/25 20/25 | "Horseshoe" pattern of atrophy | Normal rod Normal cone | No testing | . | . | ELOVL4 p.A311T |
“Age” is age at ascertainment. Abbreviations: ERG - Electroretinogram; RPE - Retinal pigment epithelium; OD - right eye; OS - left eye. * Variant previously observed by dideoxy sequencing. “Variants” indicates putatively causal variants and does not include predicted benign or common (polymorphic) variants.