Abstract
Purpose :
Cystoid macular edema (CME) is a known endophenotype of retinitis pigmentosa (RP). Currently, factors associated with CME in RP are unclear. This study aims to identify associations between clinical-genetic findings in RP with CME.
Methods :
This was a retrospective cross-sectional study. Patients with RP were identified from a database of inherited retinal disease patients seen at the Shiley Eye Institute, UCSD. Patient clinical, demographic, spectral domain-optical coherence tomography (SD-OCT) and genetic testing data was recorded. PCR amplified genetic tests. A masked retinal fellow assessed SD-OCT images for presence of CME, Epiretinal Membrane (ERM), Posterior Vitreous Detachment (PVD) and Vitreo-macular Traction (VMT).
Two-sample t-tests and χ2 measured clinical differences between CME patients and Fisher Test was used for multifactorial and two-factor variables which were disproportionate. A generalized linear mixed effect model was created to fit the binomial nature of CME with an array of independent variables. Odds ratio analysis also targeted demographics. Analysis used R statistical software.
Results :
The database contained 571 patients. A total of 113 patients (225 eyes) had confirmed RP and were included in the analysis.The mean age of the cohort was 47 years (SD+-19), with 62 (54.91%) females (Table 1). 36% (81 eyes) presented with CME (OD = 38.9%, OS = 32.7%). A correlation was found between ERM (CI= 95%, p = 0.023) and VMT (CI = 95%, <0.001) and CME (Table 2).
An odds ratio of 2.92 (CI = 95%, <.254) was found for CME in males, although gender failed to meet significance during modeling. Black (n= 4, μ = 3.5%) and Asian (n = 11, μ = 9.7%) ethnicities presented with the highest odds of CME presence when compared to Caucasian subjects with CME (n = 33, μ = 40.7%).
Cases with X-linked, AD and AR mutations did not have any significantly increased odds of having CME. Additionally, no significant relationship was found between CME and genetic cause of RP.
Conclusions :
CME was commonly seen in RP patients and was associated with vitreoretinal interface changes including ERM and VMT. However, no relationship was found between genetic causes of RP and CME in our cohort despite some genes nearing significance.
Interestingly, males had a higher risk of CME in our cohort. Further study in larger cohorts is warranted to confirm the findings from this study.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.