ArticleInvestigative ophthalmology & visual science2022
Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.
Article in Investigative ophthalmology & visual science, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 20 citations in OpenAlex.
- Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism.NPJ genomic medicine · 2026Article
- Display color gamut as a spectral risk factor for myopia: a unifying hypothesis linking chromatic emmetropization, cone circuitry dysfunction, and the spectral deficiency of digital screens.Frontiers in ophthalmology · 2026Article
- Assessing the Relationship between Foveal Cone Density, Outer Nuclear Layer Thickness and Foveal Morphology.Ophthalmology science · 2026Article
- Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.Investigative ophthalmology & visual science · 2025Article
- Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism.Investigative ophthalmology & visual science · 2025Article
- RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.Investigative ophthalmology & visual science · 2025Article
- Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review.Clinical & experimental ophthalmology · 2025Review
- Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.The British journal of ophthalmology · 2025Article
- Early-Onset Cone Photoreceptor Degeneration Is Associated With High Myopia inJournal of ophthalmology · 2025Article
- The Electroretinogram I-Wave, a Component Originating in the Retinal OFF-Pathway, Associates With a Myopia Genetic Risk Polymorphism.Investigative ophthalmology & visual science · 2024Article
- Infantile Nystagmus Syndrome-Associated Inherited Retinal Diseases: Perspectives from Gene Therapy Clinical Trials.Life (Basel, Switzerland) · 2024Review
- Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study.Orphanet journal of rare diseases · 2024Article
- Pupillary Light Reflex Reveals Melanopsin System Alteration in the Background of Myopia-26, the Female Limited Form of Early-Onset High Myopia.Investigative ophthalmology & visual science · 2024Article
- Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.BMC medical genomics · 2023Article
- IMI-Management and Investigation of High Myopia in Infants and Young Children.Investigative ophthalmology & visual science · 2023Article
- A multiethnic genome-wide analysis of 19,420 individuals identifies novel loci associated with axial length and shared genetic influences with refractive error and myopia.Frontiers in genetics · 2023Article
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Authors and funding
15 authors at 6 institutions in 3 countries.
Funding
Abstract
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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