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Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

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Katie M. Williams, Michalis Georgiou, Angelos Kalitzeos, Isabelle Chow, Pirro G. Hysi, Anthony G. Robson, Gareth Lingham, Fred K. Chen, David A. Mackey, Andrew R. Webster, Christopher J. Hammond, Polina Prokhoda, Joseph Carroll, Michel Michaelides, Omar A. Mahroo

Original languageEnglish
Article number15
Pages (from-to)15
Number of pages1
JournalInvestigative ophthalmology & visual science
Issue number6
Published1 Jun 2022

Bibliographical note

Funding Information: Supported by grants from the Wellcome Trust (099173/Z/12/Z and 206619_Z_17_Z); the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology; Macular Society (UK); Fight for Sight (UK); Onassis Foundation; Leventis Foundation; Moorfields Eye Hospital Special Trustees; Moorfields Eye Charity; Retina UK; and the Foundation Fighting Blindness (USA). Also supported in part by the National Eye Institute, National Institutes of Health (NIH), under award number R01EY017607 and by the National Center for Advancing Translational Sciences of the NIH under award number UL1TR001436. KMW acknowledges funding from the Chad-burn Clinical Lectureship and Clinical Lecturer Starter Grant from the Academy of Medical Sciences. TwinsUK is funded by the Wellcome Trust, Medical Research Council, Versus Arthritis, European Union Horizon 2020, Chronic Disease Research Foundation, and the National Institute for Health Research– funded BioResource, Clinical Research Facility, and Biomedical Research Centre based at Guy’s and St Thomas’ NHS Foundation Trust in partnership with King’s College London. The Raine Study is funded by The University of Western Australia, Curtin University, Telethon Kids Institute, Women and Infants Research Foundation, Edith Cowan University, Murdoch University, The University of Notre Dame Australia, and the Raine Medical Research Foundation. The eye data collection of the Raine Study Gen2-20 year follow-up was funded by National Health and Medical Research Council Grant 1021105, Ophthalmic Research Institute of Australia, Alcon Research Institute, Lions Eye Institute, and the Australian Foundation for the Prevention of Blindness. The sponsors or funding organizations had no role in the design or conduct of this research. The views expressed are those of the authors and not of the funding organizations. Publisher Copyright: Copyright 2022 The Authors.

King's Authors


Purpose: We investigated axial length (AL) distributions in inherited retinal diseases (IRDs), comparing them with reference cohorts. Methods: AL measurements from IRD natural history study participants were included and compared with reference cohorts (TwinsUK, Raine Study Gen2-20, and published studies). Comparing with the Raine Study cohort, formal odds ratios (ORs) for AL ≥ 26 mm or AL ≤ 22 mm were derived for each IRD (Firth's logistic regression model, adjusted for age and sex). Results: Measurements were available for 435 patients (median age, 19.5 years). Of 19 diseases, 10 had >10 participants: ABCA4 retinopathy; CNGB3- and CNGA3-associated achromatopsia; RPGR-associated disease; RPE65-associated disease; blue cone monochromacy (BCM); Bornholm eye disease (BED); TYR- and OCA2-associated oculocutaneous albinism; and GPR143-associated ocular albinism. Compared with the TwinsUK cohort (n = 322; median age, 65.1 years) and Raine Study cohort (n = 1335; median age, 19.9 years), AL distributions were wider in the IRD groups. Increased odds for longer ALs were observed for BCM, BED, RPGR, RPE65, OCA2, and TYR; increased odds for short AL were observed for RPE65, TYR, and GPR143. In subanalysis of RPGR-associated disease, longer average ALs occurred in cone-rod dystrophy (n = 5) than rod-cone dystrophy (P = 0.002). Conclusions: Several diseases showed increased odds for longer AL (highest OR with BCM); some showed increased odds for shorter AL (highest OR with GPR143). Patients with RPE65- and TYR-associated disease showed increased odds for longer and for shorter eyes. Albinism genes were associated with different effects on AL. These findings add to the phenotype of IRDs and may yield insights into mechanisms of refractive error development.

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