An Artificial Intelligence Method for Phenotyping of OCT-Derived Thickness Maps Using Unsupervised and
Saber Kazeminasab1, Sayuri Sekimitsu2, Mojtaba Fazli3
1Harvard Ophthalmology AI Lab, Schepens Eye Research Institute of Massachusetts Eye and Ear, Harvard Medical School, Harvard University, Boston, MA, USA. skazeminasabhashemabad@meei.harvard.edu.
Journal of Imaging Informatics in Medicine
|May 20, 2025
View abstract on PubMed
Summary
Artificial intelligence (AI) advances ophthalmic disease research by analyzing optical coherence tomography (OCT) images. A novel AI method successfully transfers OCT phenotypes across datasets, identifying clinically meaningful retinal layer clusters for glaucoma research.
Area of Science:
- Ophthalmology
- Artificial Intelligence
- Medical Imaging
Background:
- Understanding ophthalmic disease physiology and genetics is crucial.
- Optical coherence tomography (OCT) provides detailed retinal imaging.
- Developing methods for cross-dataset analysis of OCT data is challenging.
Purpose of the Study:
- To enhance understanding of ophthalmic disease physiology and genetic architecture.
- To introduce a novel AI methodology for transferring OCT phenotypes across datasets.
- To phenotype and cluster OCT-derived retinal layer thicknesses using glaucoma as a model.
Main Methods:
- Employed unsupervised and self-supervised learning techniques.
- Integrated deep learning, manifold learning, and Gaussian mixture models.
Main Results:
- Identified 9 to 11 clinically meaningful phenotypic clusters per retinal layer, consistent across datasets.
- Demonstrated strong intra-cluster similarity and significant correlations with glaucoma severity markers (visual field mean deviation, cup-to-disc ratio).
- Validated the model's robustness and generalizability across diverse datasets.
Conclusions:
- The developed AI methodology enables robust OCT-based phenotyping and phenotype transfer.
- This approach facilitates translational research in ophthalmic disease mechanisms and genetic discovery.
- The findings pave the way for improved understanding and diagnosis of eye diseases.


