Abstract
Purpose :
As the range of interventions to tackle myopia progression widens, there is increasing appreciation of the heterogeneity of clinical course of early-onset myopia dependent on aetiology. The Stickler syndromes are connective tissue disorders associated with congenital syndromic myopia, and represent the most common cause of rhegmatogenous retinal detachment in children. In this longitudinal study, we aimed to evaluate the progression of myopia in a cohort of children with genetically-confirmed Stickler syndrome.
Methods :
Inclusion criteria were all patients under 18 years of age with genetic diagnosis of Stickler syndrome and available refractive data, presenting to the NHS England Stickler Highly Specialised Service in Cambridge, United Kingdom. Exclusion criteria included those who underwent lens replacement surgery. Change in spherical equivalent refraction from initial to most recent clinical visit was compared using a paired t-test.
Results :
40 children with Type 1 Stickler syndrome (COL2A1 variant) and 5 patients with Type 2 Stickler syndrome (COL11A1 variant) were included in the study (mean age at presentation 4.71 ± 2.2 years). Mean length of follow-up was 60.2 months. The mean rate of myopia progression was -0.004 ± 1.36 dioptres per year amongst those with Type 1 Stickler syndrome, and 0.082 ± 0.28 dioptres per year in those with Type 2 Stickler syndrome. There was no statistically significant difference between initial and most recent refraction in either group (p =0.20 for each group, paired t-test).
Conclusions :
This longitudinal study, representing the largest cohort study of myopia progression in children with a genetically confirmed diagnosis of Stickler syndrome, indicates that there is minimal progression in congenital myopia associated with Stickler syndrome.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.