Abstract
We sought to ascertain typical features and aetiology in infants and young children presenting with high myopia at a dedicated UK ophthalmic hospital.
We performed a retrospective review of children with high myopia (-6D) age 5 years or younger identified using appropriate search terms from electronic medical records. Presenting features, family history, ocular imaging, biometry, electrodiagnostic tests and genetic testing were reviewed, together with progression rates where possible.
We identified 91 children with a mean age at presentation of 3.6 years (minimum 4 months). There was a slight male predominance (52%). When recorded, high rates of parental myopia overall and specifically high myopia were seen. Mean spherical equivalent (SE) at presentation was -7.70 D (SD 4.92), with maximum SE = -25D. Rates of imaging and/or biometry were low (n=4). Thirteen children had electrodiagnostic testing with an abnormality indicative of inherited retinal disease in 69%. Likewise, 13 children underwent genetic testing with positive findings in 7, including FBN1, RPGR, incomplete CSNB, PAX6 and Sticklers. Mean annual progression rate was -0.24D/year (SD 0.79) with a maximum of -2.46D/year. In comparison to a proximal tertiary paediatric hospital, we identified a slightly older age at presentation (3.6 vs 2.7 years) and lower rates of abnormal electrodiagnostics (9.8% vs 23%).
In this contemporaneous series of infants and young children with high myopia approximately 25% had mendelian or secondary myopia, but a large proportion appeared to have simple myopia with a strong family history. This may reflect global trends in myopia prevalence and age of onset.