The Effect of Light Deprivation in Human STGD1 Patients

Abstract

Purpose: To investigate the course of fundus autofluorescence (AF) appearance in human patients with autosomal recessive Stargardt disease (STGD1) in dependence of light exposure.

Methods: Retrospective, observational, case series. Patients asking for any therapeutic options were advised to protect their best eye from light exposure during waking hours for a period of at least one year by a personalized black contact lens. Five patients with STGD1; three males and two females, aged 10 to 46 years, with pathologic mutations in the ABCA4 gene, were included. With AF-image analysis, we measured the longitudinal change of focally increased fundus AF (FIAF) and focally decreased fundus AF (FDAF) relative to the image background, corrected for yearly rate of change and normalized for the uncovered eye.

Results: All patients wore the black contact lens as advised during an average follow-up period of 17.8 months. The overall visual acuity remained stable in both covered and uncovered eyes, except for one patient who had bilateral loss of visual acuity from 20/40 to 20/100 after 28 months. There was significantly less development of normalized FDAF per year in 4 of 5 covered eyes compared to light-exposed fellow eyes (mean ± standard deviation (SD), 53 ± 21.5%, P = 0.014, Mann- Whitney U-test). In contrast, normalized FIAF development did not vary between treated and untreated eyes.

Conclusions: We firstly report the effect of complete light protection on AF development in patients with STGD1. AF image analysis suggests a reduced progression of disease related retinal pigment epithelium atrophy in light-protected eyes.

Keywords: 696 retinal degenerations: hereditary • 551 imaging/image analysis: non-clinical