Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images

Hannah Currant*, Pirro Hysi, Tomas W. Fitzgerald, Puya Gharahkhani, Pieter W.M. Bonnemaijer, Anne Senabouth, Alex W. Hewitt, Denize Atan, Tin Aung, Jason Charng, Hélène Choquet, Jamie Craig, Peng T. Khaw, Caroline C.W. Klaver, Michiaki Kubo, Jue Sheng Ong, Louis R. Pasquale, Charles A. Reisman, Maciej Daniszewski, Joseph E. PowellAlice Pébay, Mark J. Simcoe, Alberta A.H.J. Thiadens, Cornelia M. van Duijn, Seyhan Yazar, Eric Jorgenson, Stuart MacGregor, Chris J. Hammond, David A. Mackey, Janey L. Wiggs, Paul J. Foster, Praveen J. Patel, Ewan Birney, Anthony P. Khawaja

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

31 Citations (Scopus)


Optical Coherence Tomography (OCT) enables non-invasive imaging of the retina and is used to diagnose and manage ophthalmic diseases including glaucoma. We present the first large-scale genome-wide association study of inner retinal morphology using phenotypes derived from OCT images of 31,434 UK Biobank participants. We identify 46 loci associated with thickness of the retinal nerve fibre layer or ganglion cell inner plexiform layer. Only one of these loci has been associated with glaucoma, and despite its clear role as a biomarker for the disease, Mendelian randomisation does not support inner retinal thickness being on the same genetic causal pathway as glaucoma. We extracted overall retinal thickness at the fovea, representative of foveal hypoplasia, with which three of the 46 SNPs were associated. We additionally associate these three loci with visual acuity. In contrast to the Mendelian causes of severe foveal hypoplasia, our results suggest a spectrum of foveal hypoplasia, in part genetically determined, with consequences on visual function.

Original languageEnglish
Article numbere1009497
JournalPLoS Genetics
Issue number5
Publication statusPublished - 12 May 2021


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