Risk of Ocular Pathology in Rett Syndrome.

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.