Differential Disease Progression in Atrophic Age-Related Macular Degeneration and Late-Onset Stargardt Disease

Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):1001-1007. doi: 10.1167/iovs.16-20980.

Abstract

Purpose: To compare the disease course of retinal pigment epithelium (RPE) atrophy secondary to age-related macula degeneratio (AMD) and late-onset Stargardt disease (STGD1).

Methods: Patients were examined longitudinally by fundus autofluorescence, near-infrared reflectance imaging, and best-corrected visual acuity (BCVA). Areas of RPE atrophy were quantified using semi-automated software, and the status of the fovea was evaluated based on autofluorescence and near-infrared reflectance images. Mixed-effects models were used to compare atrophy progression rates. BCVA loss and loss of foveal integrity were analyzed using Turnbull's estimator.

Results: A total of 151 patients (226 eyes) with RPE atrophy secondary to AMD and 38 patients (66 eyes) with RPE atrophy secondary to late-onset STGD1 were examined for a median time of 2.3 years (interquartile range, 2.7). Mean baseline age was 74.2 years (SD, 7.6) in AMD and 63.4 (SD, 9.9) in late-onset STGD1 (P = 1.1 × 10-7). Square root atrophy progression was significantly faster in AMD when compared with late-onset STGD1 (0.28 mm/year [SE, 0.01] vs. 0.23 [SE, 0.03]; P = 0.030). In late-onset STGD1, the median survival of the fovea was significantly longer when compared with eyes with AMD (8.60 vs. 3.35 years; P = 0.005) with a trend to a later BCVA loss of ≥3 lines (5.97 vs. 4.37 years; P = 0.382).

Conclusions: These natural history data indicate differential disease progression in AMD versus late-onset STGD1. The results underline the relevance of refined phenotyping in elderly patients presenting with RPE atrophy in regard to prognosis and design of interventional trials.

MeSH terms

  • Aged
  • Disease Progression
  • Electroretinography
  • Female
  • Fluorescein Angiography / methods*
  • Follow-Up Studies
  • Fundus Oculi
  • Humans
  • Macula Lutea / pathology*
  • Macula Lutea / physiopathology
  • Macular Degeneration / congenital*
  • Macular Degeneration / diagnosis*
  • Male
  • Middle Aged
  • Prognosis
  • Retinal Pigment Epithelium / pathology*
  • Retrospective Studies
  • Stargardt Disease
  • Tomography, Optical Coherence
  • Visual Acuity*