Genetic insights into foveal morphology and its associations with pigmentation and age-related macular degeneration

@article{green2026genetic,
  title = {{Genetic insights into foveal morphology and its associations with pigmentation and age-related macular degeneration}},
  author = {David J. Green and Thomas H. Julian and David Romero-Bascones and Sofia Torchia and Heer N. V. Joisher and Unai Ayala and Maitane Barrenechea and Jay E. Self and Graeme C. Black and Tomas Fitzgerald and Ewan Birney and Constance L. Cepko and Joseph Carroll and Panagiotis I. Sergouniotis and On behalf of the UK Biobank Eye and Vision Consortium and Naomi Allen and Tariq Aslam and Denize Atan and Konstantinos Balaskas and Sarah Barman and Jenny Barrett and Paul Bishop and Graeme Black and Tasanee Braithwaite and Roxana Carare and Usha Chakravarthy and Michelle Chan and Sharon Chua and Alexander Day and Parul Desai and Bal Dhillon and Andrew Dick and Alexander Doney and Cathy Egan and Sarah Ennis and Paul Foster and Marcus Fruttiger and John Gallacher and David Garway-Heath and Jane Gibson and Jeremy Guggenheim and Chris Hammond and Alison Hardcastle and Simon Harding and Ruth Hogg and Pirro Hysi and Peng Tee Khaw and Anthony Khawaja and Gerassimos Lascaratos and Adam Lewandowski and Thomas Littlejohns and Andrew Lotery and Robert Luben and Phil Luthert and Tom Macgillivray and Sarah Mackie and Savita Madhusudhan and Bernadette Mcguinness and Gareth Mckay and Martin Mckibbin},
  journal = {Communications Biology},
  year = {2026},
  month = nov,
  doi = {10.1038/s42003-026-11248-y},
  url = {https://www.nature.com/articles/s42003-026-11248-y},
  note = {CC BY 4.0},
}

TY  - JOUR
TI  - Genetic insights into foveal morphology and its associations with pigmentation and age-related macular degeneration
AU  - David J. Green
AU  - Thomas H. Julian
AU  - David Romero-Bascones
AU  - Sofia Torchia
AU  - Heer N. V. Joisher
AU  - Unai Ayala
AU  - Maitane Barrenechea
AU  - Jay E. Self
AU  - Graeme C. Black
AU  - Tomas Fitzgerald
AU  - Ewan Birney
AU  - Constance L. Cepko
AU  - Joseph Carroll
AU  - Panagiotis I. Sergouniotis
AU  - On behalf of the UK Biobank Eye and Vision Consortium
AU  - Naomi Allen
AU  - Tariq Aslam
AU  - Denize Atan
AU  - Konstantinos Balaskas
AU  - Sarah Barman
AU  - Jenny Barrett
AU  - Paul Bishop
AU  - Graeme Black
AU  - Tasanee Braithwaite
AU  - Roxana Carare
AU  - Usha Chakravarthy
AU  - Michelle Chan
AU  - Sharon Chua
AU  - Alexander Day
AU  - Parul Desai
AU  - Bal Dhillon
AU  - Andrew Dick
AU  - Alexander Doney
AU  - Cathy Egan
AU  - Sarah Ennis
AU  - Paul Foster
AU  - Marcus Fruttiger
AU  - John Gallacher
AU  - David Garway-Heath
AU  - Jane Gibson
AU  - Jeremy Guggenheim
AU  - Chris Hammond
AU  - Alison Hardcastle
AU  - Simon Harding
AU  - Ruth Hogg
AU  - Pirro Hysi
AU  - Peng Tee Khaw
AU  - Anthony Khawaja
AU  - Gerassimos Lascaratos
AU  - Adam Lewandowski
AU  - Thomas Littlejohns
AU  - Andrew Lotery
AU  - Robert Luben
AU  - Phil Luthert
AU  - Tom Macgillivray
AU  - Sarah Mackie
AU  - Savita Madhusudhan
AU  - Bernadette Mcguinness
AU  - Gareth Mckay
AU  - Martin Mckibbin
PY  - 2026
DA  - 2026/11/03
JO  - Communications Biology
DO  - 10.1038/s42003-026-11248-y
UR  - https://www.nature.com/articles/s42003-026-11248-y
AB  - The fovea is the small depression at the neurosensory retina that underlies high-resolution central vision. It is vulnerable to disease and disruption of its architecture can lead to visual disability. Foveal morphology varies substantially across individuals but the molecular causes and functional consequences of this variation remain incompletely understood. Here, we analyse six foveal morphological parameters derived from optical coherence tomography (OCT) images of 39,521 UK Biobank participants. We find marked variation in foveal morphology and identify significant associations with sex and genetic ancestry. Genome-wide association studies identify 162 lead loci across the six foveal morphological parameters, implicating genes involved in pigmentation (including TYR , TSPAN10 and GPR143 ) and developmental patterning (including FGFR2 , CYP26C1 and CYP1A1 ). Heritability estimates range from 29 to 43%. Foveal pit volume is associated with future risk of age-related macular degeneration (AMD) (hazard ratio 1.09, p = 0.026), a finding supported by Mendelian randomisation. Given the strong correlations among foveal traits, the specificify of this association to pit volume remains unclear. These results establish foveal morphology as a highly heritable trait that is biologically linked to AMD.
SN  - 2399-3642
ER  -