Table 1 Clinical Information and Genetic Findings of Putative Stargardt Disease Cases
From: Molecular diagnosis of putative Stargardt disease probands by exome sequencing
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 |