-
Purpose:
Stargardt disease (SD) is the most common inherited macular dystrophy. This study seeks to identify factors contributing to delayed presentation to Inherited Retinal Degeneration (IRD) Services.
-
Methods:
IRB-approved retrospective study included 87 patients with molecularly confirmed SD. Medical records from June 2016 to May 2024 were reviewed. Patients were classified into Early (G1), Intermediate (G2), and Late Onset (G3) groups based on age-of-symptom onset. Clinical data, including demographics, Social Vulnerability Index (SVI), LogMAR visual acuity (VA), and imaging features, were analyzed. Primary outcomes were intervals from: symptom onset to Retina specialist (S-R), Retina specialist to IRD Service (R-IRD), and onset to IRD Service (S-IRD). Chi-Square and Pearson correlation analysis was performed.
-
Results:
G1 (n=33) had a mean age-of-onset of 6.5 ± 2.08 years, G2 (n=37) 25.4 ± 10.9 years, and G3 (n=17) 55.1 ± 6.19 years. VA mean at the first Retina and IRD encounter: G1: 0.8 to 1.0 (p=0.006), G2: 0.4 to 0.6 (p=0.04), and G3: 0.2 to 0.4 (p=0.001). Subfoveal Ellipsoid Zone absence at first IRD evaluation was highest in G1 (90%), followed by G2 (75%) and G3 (30%) (p < 0.001). S-IRD intervals for G1, G2, and G3 were 4.5, 11 and 5, respectively.
-
Conclusions:
In contrast to the late-onset subgroup, early and intermediate-onset SD patients reach IRD clinics with advanced central vision loss and compromised foveal photoreceptor integrity. Improved SD screening methods are needed to allow these patients to reach IRD clinics in time to have better chances of responding to future treatments.