Journal
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Volume 63, Issue 6, Pages -Publisher
ASSOC RESEARCH VISION OPHTHALMOLOGY INC
DOI: 10.1167/iovs.63.6.15
Keywords
retina; rod-cone dystrophy; cone-rod dystrophy; macular dystrophy; albinism; eye axial length; myopia; hyperopia
Categories
Funding
- Wellcome Trust [099173/Z/12/Z, 206619_Z_17_Z]
- National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust
- UCL Institute of Ophthalmology
- Fight for Sight (UK)
- Onassis Foundation
- Leventis Foundation
- Moorfields Eye Hospital Special Trustees
- Moorfields Eye Charity
- Retina UK
- Foundation Fighting Blindness (USA)
- Macular Society (UK)
- Clinical Lecturer Starter Grant from the Academy of Medical Sciences [R01EY017607]
- National Eye Institute, National Institutes of Health (NIH)
- National Center for Advancing Translational Sciences of the NIH [UL1TR001436]
- University of Notre Dame Australia
- Chadburn Clinical Lectureship
- Raine Medical Research Foundation
- Medical Research Council
- National Health and Medical Research Council
- Versus Arthritis
- Ophthalmic Research Institute of Australia
- European Union
- Alcon Research Institute
- Chronic Disease Research Foundation
- Lions Eye Institute
- National Institute for Health Research
- Australian Foundation for the Prevention of Blindness
- Biomedical Research Centre based at Guy's and St Thomas' NHS Foundation Trust
- King's College London
- University of Western Australia
- Curtin University
- Telethon Kids Institute
- Women and Infants Research Foundation
- Edith Cowan University
- Murdoch University
- [1021105]
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This study investigates the axial length distributions in inherited retinal diseases (IRDs) and compares them with reference cohorts. The findings suggest that some IRDs are associated with longer axial lengths, while others are associated with shorter axial lengths.
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 oculocu-taneous 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 find-ings add to the phenotype of IRDs and may yield insights into mechanisms of refractive error development.
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