Journal article
Aetiology, characteristics and workup of early onset high myopia
British journal of ophthalmology
02/26/2026
DOI: 10.1136/bjo-2025-329097
PMCID: PMC13085012
PMID: 41748312
Abstract
BackgroundEarly-onset high myopia (eoHM) associates with multiple ocular and systemic disorders. This study evaluates the repertoire and relative prevalence of these disorders in a tertiary care setting, parses them by eoHM and other characteristics and evaluates the utility of diagnostic workup.MethodsWe performed a retrospective analysis of eoHM cases seen at two US eye centres from 2012 to 2022. eoHM was defined as a myopic refraction requiring glasses when ≤2 years of age and/or a refraction greater than −6D by 6 years of age. We reviewed the extent and outcome of workup, including ocular examination, imaging, electrophysiology, systemic evaluation and genetic testing.ResultOf 407 patients with eoHM, 39% had an associated ocular disorder, 21% had a systemic disorder and 40% had apparently isolated eoHM (ie, no associated condition). Patients with associated disorders often reported typical presenting complaints but were more likely to be seen earlier in life, to possess severe, symmetric or very asymmetric eoHM and to display other stigmata of visual dysfunction. Patients with connective tissue disorders and select inherited retinal disorders had the most severe and symmetric eoHM compared with other conditions or isolated cases. Electroretinography and genetic testing were critical workup components.ConclusionseoHM frequently associates with a wide array of ocular and systemic disorders and may display distinct clinical characteristics depending on the associated condition. Awareness of the range of disorders that present with eoHM, key distinguishing characteristics, the role of timely and targeted workup and the importance of an accurate diagnosis are key considerations.
Details
- Title: Subtitle
- Aetiology, characteristics and workup of early onset high myopia
- Creators
- Hyeck-Soo Son - Johns Hopkins UniversityAnthony Zeng - Johns Hopkins UniversityVeronica Peotta Jacobsen - University of Iowa Health CareGrant Welk - University of Iowa Health CareAva Niknahad - Johns Hopkins UniversityJoel VandeLune - University of IowaTara Lynn Bragg - University of Iowa Health CareLuke Zhao - Johns Hopkins UniversityMaria Ludovica Ruggeri - Johns Hopkins UniversityArlene V Drack - University of IowaAlina V Dumitrescu - University of Iowa Health CareJefferson J Doyle - Johns Hopkins University
- Resource Type
- Journal article
- Publication Details
- British journal of ophthalmology
- DOI
- 10.1136/bjo-2025-329097
- PMID
- 41748312
- PMCID
- PMC13085012
- NLM abbreviation
- Br J Ophthalmol
- ISSN
- 0007-1161
- eISSN
- 1468-2079
- Publisher
- BMJ Publishing Group Ltd
- Grant note
- AVD / Keech Professorship 148979 (JJD) / Research to Prevent Blindness (http://dx.doi.org/10.13039/100001818) 2021-6, 137957 (JJD) / Knights Templar Eye Foundation (http://dx.doi.org/10.13039/100001209) 149457 (JJD) / CMT4B3 Research Foundation 139943 (JJD) / Marfan Foundation (http://dx.doi.org/10.13039/100010258) JJD / Andreas C. Dracopoulos and Daniel Finkelstein M.D. Rising Professorship in Ophthalmology AD / Chakraborty Professorship K08EY033852 (JJD) / National Eye Institute (http://dx.doi.org/10.13039/100000053) 140409 (JJD) / Conquering Gyrate Atrophy JJD / Stirn Family Fund
- Language
- English
- Electronic publication date
- 02/26/2026
- Academic Unit
- Stead Family Department of Pediatrics; Ophthalmology and Visual Sciences
- Record Identifier
- 9985139316602771
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