Visual acuity loss and clinical observations in a large series of patients with stargardt disease

Purpose To assess visual acuity impairment in Stargardt disease. Design Retrospective clinic-based cross-sectional study. Participants Three-hundred sixty-one patients with Stargardt disease. Methods Clinical findings in 361 patients were analyzed as part of a cross-sectional evaluation. Visual acuity at their most recent visit, fundus photographs, and electroretinographic findings were reviewed, and patients were categorized into four clinical phenotypes. Seventy-three patients with 20/40 or better vision and 38 patients with 20/50 to 20/100 vision in the better seeing eye at their initial visit who were followed for at least 1 year were included in a survival analysis. For analysis purposes, these latter patients were categorized into four 20-year age groups according to their age at initial visit. Main outcome measures Best-corrected visual acuity from the eye with better vision on the most recent visit was used in the cross-sectional analysis. For the survival analysis, best-corrected visual acuity was used from the eye with better vision on the initial visit. Results Eighty-two of the 361 patients (23%) had 20/40 or better acuity in at least one eye, 64 (18%) 20/50 to 20/100, and 199 (55%) 20/200 to 20/400, whereas 16 (4%) had worse than 20/400 in each eye at their most recent visit. In the patients with visual acuity of 20/40 or better, 59 (72%) had foveal sparing visible on ophthalmoscopic examination. The median time to develop visual acuity of 20/200 or worse was 22 years for the patients with 20/40 or better visual acuity at their initial visit. Those seen initially in the first two decades of life with this level of acuity showed a median time of 7 years to reach a visual acuity of 20/200 or worse compared with 22 years and 29 years for those who were initially seen at ages 21 to 40 or 41 to 60, respectively. Analyzing by the four 20-year age groups, the log rank statistic indicated significant differences in the survival experience among the four groups (P = 0.004). The median time to develop 20/200 vision or worse was 6 years for the patients with 20/50 to 20/100 visual acuity at their initial visit, and this result, based on the log rank statistic, was independent of age group at initial visit (P = 0.852). Conclusions In a large cohort of Stargardt patients, a cross-sectional analysis showed that almost a quarter had vision of 20/40 or better, whereas 4% had acuity of worse than 20/400. The presence of foveal sparing ophthalmoscopically was associated with a higher prevalence of 20/40 or better visual acuity. Survival analysis showed that the prognosis of patients who initially were seen with visual acuity of 20/40 or better is related to age at initial visit.