# Deep-learning-based clustering of OCT images for biomarker discovery in age-related macular degeneration (Pinnacle study report 4)

arXiv: https://arxiv.org/abs/2405.09549 · HTML: https://mlsanity.com/paper/2405.09549/

## Key facts

- Cited by 2 papers in the map (data through 14 Oct 2026).
- Builds on 10 of its 51 references that are in the map.
- First posted on arXiv 12 Mar 2024.

## Builds on (most cited first, 10 of 10)

- [Deep Residual Learning for Image Recognition](https://mlsanity.com/paper/1512.03385/) (2015)
- [A Simple Framework for Contrastive Learning of Visual Representations](https://mlsanity.com/paper/2002.05709/) (2020)
- [Representation Learning with Contrastive Predictive Coding](https://mlsanity.com/paper/1807.03748/) (2018)
- [Momentum Contrast for Unsupervised Visual Representation Learning](https://mlsanity.com/paper/1911.05722/) (2019)
- [Grad-CAM: Visual Explanations from Deep Networks via Gradient-based Localization](https://mlsanity.com/paper/1610.02391/) (2016)
- [Bootstrap your own latent: A new approach to self-supervised Learning](https://mlsanity.com/paper/2006.07733/) (2020)
- [Unsupervised Representation Learning by Predicting Image Rotations](https://mlsanity.com/paper/1803.07728/) (2018)
- [Colorful Image Colorization](https://mlsanity.com/paper/1603.08511/) (2016)
- [Metadata-enhanced contrastive learning from retinal optical coherence tomography images](https://mlsanity.com/paper/2208.02529/) (2022)
- [Unsupervised Identification of Disease Marker Candidates in Retinal OCT Imaging Data](https://mlsanity.com/paper/1810.13404/) (2018)

## Built on by (most cited first, 2 of 2)

- [Learning Disease State from Noisy Ordinal Disease Progression Labels](https://mlsanity.com/paper/2503.10440/) (2025)
- [GCVAMD: A Modified CausalVAE Model for Causal Age-related Macular Degeneration Risk Factor Detection and Prediction](https://mlsanity.com/paper/2510.02781/) (2025)

## Abstract (arXiv)

Diseases are currently managed by grading systems, where patients are stratified by grading systems into stages that indicate patient risk and guide clinical management. However, these broad categories typically lack prognostic value, and proposals for new biomarkers are currently limited to anecdotal observations. In this work, we introduce a deep-learning-based biomarker proposal system for the purpose of accelerating biomarker discovery in age-related macular degeneration (AMD). It works by first training a neural network using self-supervised contrastive learning to discover, without any clinical annotations, features relating to both known and unknown AMD biomarkers present in 46,496 retinal optical coherence tomography (OCT) images. To interpret the discovered biomarkers, we partition the images into 30 subsets, termed clusters, that contain similar features. We then conduct two parallel 1.5-hour semi-structured interviews with two independent teams of retinal specialists that describe each cluster in clinical language. Overall, both teams independently identified clearly distinct characteristics in 27 of 30 clusters, of which 23 were related to AMD. Seven were recognised as known biomarkers already used in established grading systems and 16 depicted biomarker combinations or subtypes that are either not yet used in grading systems, were only recently proposed, or were unknown. Clusters separated incomplete from complete retinal atrophy, intraretinal from subretinal fluid and thick from thin choroids, and in simulation outperformed clinically-used grading systems in prognostic value. Overall, contrastive learning enabled the automatic proposal of AMD biomarkers that go beyond the set used by clinically established grading systems. Ultimately, we envision that equipping clinicians with discovery-oriented deep-learning tools can accelerate discovery of novel prognostic biomarkers.