The paper identifies a CYP26A1/CRYAA progenitor-glial domain in the human retina that marks the presumptive macula and links it to regional gliogenic maturation and specialized Muller glial populations.

bioRxiv · Jul 20, 2026 · PreprintDevelopmental Biology

Autoencoder-based phenotyping of ophthalmic images highlights genetic loci influencing retinal morphology and provides epidemiologically informative biomarkers.

Panagiotis I. Sergouniotis, Adam Diakite, Kumar Gaurav, Naomi Allen, Tariq Mehmood Aslam, Denize Atan, Sarah Ann Barman, Jenny Barrett, Paul Bishop, Graeme Charles M. Black, Tasanee Braithwaite, Roxana Carare, Usha Chakravarthy, Michelle P. Y. Chan, Sharon Y. L. Chua, , Tomas Fitzgerald

The paper uses an autoencoder to derive retinal phenotypes from OCT images, identifies 118 genetic loci, and shows their relevance to retinal morphology and disease prediction.

Bioinformatics · Dec 5, 2024Peer-reviewedGenetic & Genomic Medicine

Disconnection Between Microvascular Damage and Neurodegeneration in Early Diabetic Retinopathy

Qian Yang, Marina Yasvoina, Abraham Olvera-Barrios, Joel Mendes, Meidong Zhu, Cathy Egan, Adnan Tufail, Marcus Fruttiger

This study identifies early microvascular damage in diabetic retinas before clinical DR diagnosis and finds no spatial correlation between capillary dropout and neural cell loss in the inner nuclear layer.

bioRxiv · Jan 31, 2024 · PreprintPathology