Risk of Ocular Pathology in Rett Syndrome

Abstract

Purpose: To assess the risk of developing ocular alignment disorders, refractive errors, amblyopia, and nystagmus in patients with Rett syndrome.

Methods: This retrospective cohort study used de-identified patient data from the TriNetX US Collaborative network and compared a Rett syndrome and a control cohort. Propensity score matching was conducted to balance demographics and well-characterized comorbidities. Statistical analysis calculated risk ratios (RRs) and 95% confidence intervals (CIs), with significance defined by excluding CIs between 0.9 and 1.1.

Results: Patients with Rett syndrome had an increased risk of developing strabismus (RR: 3.39; CI: 2.47 to 4.65) and risk for the specific horizontal subtypes of esotropia (RR: 4.06; CI: 2.26 to 7.26) and exotropia (RR: 2.92; CI: 1.83 ro 4.68). Additionally, patients with Rett syndrome had an increased risk of developing amblyopia (RR: 1.90; CI: 1.28 to 2.82) and nystagmus (RR: 1.98; CI: 1.12 to 3.53). No differences in risk were found for astigmatism, myopia, and hyperopia development given Rett syndrome diagnosis.

Conclusions: These findings demonstrate the importance of regularly monitoring ocular health in patients with Rett syndrome and a need for further investigation into the underlying mechanisms linking the disease with these specific ocular pathologies.