TABLE 1.
Clinical characteristics of ABCA4 retinopathy probands with c.6480-35A>G.
| Patient ID (institution ID) | Sex | Age (yrs) | Initial symptom, age (yrs) | Initial clinical diagnosis | Age at last examination (yrs) | Visual acuity (logMAR) | Foveal photoreceptors | Fundus autofluorescence abnormalities | Electroretinogram | |
|---|---|---|---|---|---|---|---|---|---|---|
| OS | OD | |||||||||
| A:II-6 (RP145) | F | 67 | 21 | Stargardt disease | 67 | 1.3 | 1.3 | Loss of photoreceptors in foveal region | Patchy areas of hypo-autofluorescence in the posterior pole. Preservation of peripapillary regions | Severe cone and rod responses (57 years) |
| B:II-1 (MD-1378) | F | 51 | 41 | Stargardt disease | 48 | 0 | 0 | Loss of photoreceptors in perifoveal region | Area of RPE atrophy and hypo-autofluorescence | Severe alterations of rod responses and moderate–severe alterations in cones |
F, female; OD, right eye; OS, left eye; RPE, retinal pigment epithelium; yrs, years.