Table 1.
Clinical and genetic characteristics of patients in this study with Stargardt disease (STGD).
| Patient | Sex | Age | VA | Fundoscopy | SD-OCT Features | CMT (µm) | Genotype (ABCA4 Mutations) |
|---|---|---|---|---|---|---|---|
| Case 1 | Female | 54 years | OD: 1.0 | OU: Macular atrophy, flecks | OU: inner and outer retinal layer thinning/loss, ELM defect, ISe band defect, thinner RPE/ Bruchs complex, hyperreflective material located at the RPE level | OD 33 | c.5882G > A p.(Gly1961Glu) |
| OS: 1.0 | OS 31 | c.6089G > A p.(Arg2030Gln) | |||||
| Case 2 * | Male | 59 years | OD: l.2 | OU: Macular atrophy, flecks | OU: inner and outer retinal layer thinning/loss, ELM defect, ISe band defect, thinner RPE/ Bruchs complex, hyperreflective material located at the RPE level | OD 70 | c.4352+1A > G NA |
| OS: 1.2 | OS 65 | c.5882G > A p.Gly1961Glu | |||||
| Case 3 * | Male | 56 years | OD: 0.8 | OU: Macular atrophy flecks | OU: ELM defect, ISe band defect, photoreceptor outer segments defects,thinner RPE/ Bruchs complex, yperreflective material located at the RPE level | OD 120 | c.4352 + 1A > G NA |
| OS: 0.8 | OS 125 | c.5882G > A p.Gly1961Glu | |||||
| Case 4 | Female | 55 years | OD: 1.0 | OU: Macular atrophy, flecks | OU: inner and outer retinal layer thinning/loss, ELM defect, ISe band defect, thinner RPE/ Bruchs complex, hyperreflective material located at the RPE level | OD 32 | c.6077T > C p.(Leu2026Pro) |
| OS: 1.0 | OS 45 | c.4352þ1G > A p.(Ser1418_Pro1451delinsArg) | |||||
| Case 5 | Female | 57 years | OD: 0.9 | OU: Macular atrophy, flecks | OU: inner and outer retinal layer thinning/loss, ELM defect, ISe band defect, thinner RPE/ Bruchs complex, hyperreflective material located at the RPE level | OD 65 | c.5882G > A p.(Gly1961Glu) |
| OS: 1.1 | OS 20 | c.4234C > T p.(Gln1412 *) | |||||
| Case 6 | Female | 20 years | OD: 1.0 | OU: Macular atrophy, flecks | OU: ELM defect, ISe band defect, photoreceptor outer segments defects, thinner RPE/ Bruchs complex, hyperreflective material located at the RPE level | OD 78 | c.6112C > T p.(Arg2038Trp) |
| OS: 1.0 | OS 72 | c.4462T > C p.(Cys1488Arg) | |||||
| Case 7 | Female | 63 years | OD: 0.9 | OU: Macular atrophy, flecks | OD: ELM defect, ISe band defect, photoreceptor outer segments defects, thinner RPE/ Bruchs complex, hyperreflective material located at the RPE level | OD 85 | c.206G > A p.(Trp69 *) |
| OS: NA | OS: NA | OS: NA | c.3113C > T p. (Ala1038Val) | ||||
| Case 8 | Male | 47 years | OD: 1.2 | OU: Macular atrophy | OU: inner and outer retinal layer thinning/loss, ELM defect, ISe band defect, thinner RPE/ Bruchs complex | OD 52 | c.3322C>T p.(Arg1108Cys) |
| OS: 1.2 | OS 69 | c.6112C>T p.(Arg2038Trp) | |||||
| Case 9 | Male | 23 years | OD: 1.1 | OU: Macular atrophy, flecks | OU: ELM defect, ISe band defect, photoreceptor outer segments defects,thinner RPE/ Bruchs complex, hyperreflective material located at the RPE level | OD 43 | c.1622T>C p.(Leu541Pro) |
| OS: 1.1 | OS 59 | c.6437G>A p.(Gly2146Asp) |
VA, visual acuity; SD-OCT, Spectral Domain OCT; CMT, central macular thickness; RPE, retinal pigment epithelium; ELM, external limiting membrane; ISe, inner segment ellipsoid; NA, not available; * These two patients are brothers.