Geographic atrophy phenotype identification by cluster analysis

Br J Ophthalmol. 2018 Mar;102(3):388-392. doi: 10.1136/bjophthalmol-2017-310268. Epub 2017 Jul 20.

Abstract

Background/aims: To identify ocular phenotypes in patients with geographic atrophy secondary to age-related macular degeneration (GA) using a data-driven cluster analysis.

Methods: This was a retrospective analysis of data from a prospective, natural history study of patients with GA who were followed for ≥6 months. Cluster analysis was used to identify subgroups within the population based on the presence of several phenotypic features: soft drusen, reticular pseudodrusen (RPD), primary foveal atrophy, increased fundus autofluorescence (FAF), greyish FAF appearance and subfoveal choroidal thickness (SFCT). A comparison of features between the subgroups was conducted, and a qualitative description of the new phenotypes was proposed. The atrophy growth rate between phenotypes was then compared.

Results: Data were analysed from 77 eyes of 77 patients with GA. Cluster analysis identified three groups: phenotype 1 was characterised by high soft drusen load, foveal atrophy and slow growth; phenotype 3 showed high RPD load, extrafoveal and greyish FAF appearance and thin SFCT; the characteristics of phenotype 2 were midway between phenotypes 1 and 3. Phenotypes differed in all measured features (p≤0.013), with decreases in the presence of soft drusen, foveal atrophy and SFCT seen from phenotypes 1 to 3 and corresponding increases in high RPD load, high FAF and greyish FAF appearance. Atrophy growth rate differed between phenotypes 1, 2 and 3 (0.63, 1.91 and 1.73 mm2/year, respectively, p=0.0005).

Conclusion: Cluster analysis identified three distinct phenotypes in GA. One of them showed a particularly slow growth pattern.

Keywords: age-related macular degeneration; cluster analysis; geographic atrophy; reticular pseudodrusen; soft drusen.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Atrophy
  • Cluster Analysis*
  • Disease Progression
  • Female
  • Fluorescein Angiography
  • Follow-Up Studies
  • Fovea Centralis / pathology
  • Geographic Atrophy / diagnosis*
  • Humans
  • Male
  • Middle Aged
  • Phenotype
  • Prospective Studies
  • Retinal Drusen / diagnosis
  • Retrospective Studies
  • Risk Factors
  • Tomography, Optical Coherence