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Investigating the associations of macular edema in retinitis pigmentosa
Juan D Arias1, Fritz Gerald P Kalaw1,2, Varsha Alex1,2
1Jacobs Retina Center, University of California San Diego, San Diego, CA, USA.
Abstract:
Macular edema (ME), the accumulation of intraretinal fluid in the macula, is a common sight affecting sequelae of retinitis pigmentosa (RP). However, it is unclear why some patients develop ME, and others do not. This study aims to identify associations between clinical-genetic factors in RP with ME. Patients with clinically confirmed RP cases were identified from the inherited retinal disease database at a large tertiary referral academic center. Demographic and genetic testing findings were noted. Additionally, optical coherence tomography volume scans were graded using a validated grading system. One hundred and six patients (73.1%) were found to have ME in at least one eye (OD = 88, mean = 37.9%, OS = 98, mean = 31.7%). Structurally, the presence of epiretinal membrane (ERM) (p < 0.007) and vitreo-macular traction (VMT) (p < 0.003) were significantly associated with ME. Additionally, X-linked (p < 0.032) and autosomal dominant inheritance (p < 0.039) demonstrated a significant association with ME, with RP1 (p < 0.045) and EYS (p < 0.017) pathogenic variants also significantly associated with ME. This study, in a large cohort of RP patients, confirms previous retinal structural associations for ME in RP and identifies potential new genetic associations.
Insights
Macular edema in retinitis pigmentosa is linked to epiretinal membranes, vitreo-macular traction, and specific genetic factors like X-linked and autosomal dominant inheritance patterns. Understanding these associations may help predict which retinitis pigmentosa patients develop macular edema.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Macular edema (ME) is a frequent complication of retinitis pigmentosa (RP).
- The specific factors contributing to ME development in RP patients remain unclear.
- Identifying these factors is crucial for predicting and potentially managing ME in RP.
Purpose of the Study:
- To investigate the associations between clinical-genetic factors and the presence of macular edema in a cohort of retinitis pigmentosa patients.
- To identify potential predictors for ME development in individuals with RP.
Main Methods:
- Retrospective analysis of 106 patients with clinically confirmed RP from an inherited retinal disease database.
- Evaluation of demographic data, genetic testing results, and optical coherence tomography (OCT) scans.
- Grading of OCT scans for structural features like epiretinal membrane (ERM) and vitreo-macular traction (VMT).
Main Results:
- Macular edema was present in 73.1% of the studied RP patients.
- Epiretinal membrane (ERM) and vitreo-macular traction (VMT) were significantly associated with ME.
- X-linked and autosomal dominant inheritance patterns, along with pathogenic variants in RP1 and EYS genes, showed significant associations with ME.
Conclusions:
- Retinal structural factors like ERM and VMT are confirmed associations with ME in RP.
- Specific genetic factors, including inheritance patterns (X-linked, autosomal dominant) and gene variants (RP1, EYS), are newly identified associations with ME in RP.
- These findings enhance the understanding of ME pathogenesis in RP and may aid in risk stratification.
