Abstract / Summary
Abstract Background To describe the clinical characteristics of childhood myopia in children with genetically confirmed inherited retinal disease (IRD) and to evaluate the frequency with which commonly stated ‘red flag’ features of secondary myopia were present. Methods This retrospective single-centre case series included children (<18 years) with bilateral myopia and genetically confirmed IRD presenting between January 2021 and January 2026. Demographic characteristics, presenting symptoms, best-corrected visual acuity (BCVA), cycloplegic refraction, family history, ocular findings, genotype and longitudinal refractive progression were recorded. The proportions of children with high myopia (≤−6.00 D) before 10 years of age and myopia exceeding chronological age were determined. Results 51 children were included, of whom 37 were male (72.5%). The mean age at presentation was 7.4 years and the mean follow-up was 3.9 years. Reduced BCVA was present in all patients at presentation. Nyctalopia and/or photophobia were reported by 46 children (90.2%). A family history of IRD was present in 30 (58.8%), nystagmus in 12 (23.5%), systemic abnormalities in 8 (15.7%) and strabismus in 2 (3.9%). High myopia before 10 years of age was present in 17 (33.3%), while only 15 (29.4%) demonstrated myopia exceeding their chronological age. Conclusions Reduced BCVA together with nyctalopia/photophobia were the most common features, whereas the frequently cited screening criteria of high myopia before 10 years of age and myopia exceeding age were present in only a minority of patients. These findings indicate that overreliance on refractive data alone may fail to identify many children with secondary myopia associated with underlying IRD.