An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4

National Eye Institute

Investigators

Abstract

We have longitudinal data on patient one over two years; Patients 2-5 (mother + 3 adult children) have been seen at the NEI clinic 3 times over a 1 year period. The three adult siblings (all in their 50’s) show advanced atrophy on Optos imaging with large areas of definitely decreased autofluorescence (DDAF) The median area of atrophy at baseline for these three patients (6 eyes) was 28.2 mm2 [range = 11.7 - 33.7 mm2]. For comparison, clinical trials of Stargardt disease typically limit recruitment to patients with areas of atrophy below 12 mm2 at baseline. The median sqrt rate of atrophy expansion was 0.23 mm/y [0.2 – 0.44 mm/y], well within the range of what we have observed in our study of ABCA4 related retinopathy. Patient 1 and Patient 5 (the 70+ year old mother of the three siblings) did not present with measurable DDAF. As an alternative, we quantitated the area of loss of photoreceptors from the OCT by measuring loss of the EZ band (see example from Patient 5 below). The area of atrophy was so large in patients (2-4), we were not able to measure loss of the photoreceptor (EZ band) layer on OCT.