Aetiology, characteristics and workup of early onset high myopia

BACKGROUND: Early-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. METHODS: We 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. RESULT: Of 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. CONCLUSIONS: eoHM 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.