FACTORS INFLUENCING THE DELAYED DIAGNOSIS OF STARGARDT DISEASE AND IMPACT ON THERAPEUTIC OPPORTUNITIES.

Abstract

To characterize the delay between symptom onset and diagnosis in patients with early-, intermediate-, and late-onset Stargardt disease (STGD) and identify possible factors contributing to this delay. Chart review was conducted for patients with confirmed STGD molecular diagnosis seen by an inherited retinal disease (IRD) specialist at a tertiary academic institution. Eighty-seven patients were included. Average time from symptom onset to first IRD specialist visit was 10.95 years (SD = 12.74). Average time between seeing a subspecialist and IRD specialist was 8.09 years (SD = 12.2), with the intermediate-onset group having a significantly longer delay (mean 13.1 years) compared with early-onset (mean 5.01 years, P = 0.025) and late-onset group (mean 3.1 years, P = 0.02). Visual acuity significantly decreased between seeing a subspecialist and IRD specialist ( P = 0.047). Patients with late-onset STGD were more likely to have intact subfoveal ellipsoid zone compared with early and intermediate-onset patients. Patients with STGD face long delays from symptom onset to molecular diagnosis, with progressive vision loss and missed opportunities for clinical trial enrollment. Contributing factors include age of onset, types of initial symptoms, and transitions in care from subspecialist to IRD specialist. Multimodal screening, more streamlined referral pathways, expedited genetic testing, and greater awareness of highly variable STGD phenotypes may mitigate these delays.