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.

Strom et al.

Strom et al. BMC Medical Genetics 2012 13:67   doi:10.1186/1471-2350-13-67

Open Data