Abstract
Purpose :
Compare onset of medical comorbidities in patients with inherited retinal diseases (IRD), including retinitis pigmentosa, who have severe visual impairment (SVI) vs those with IRD who do not.
Methods :
This was a retrospective study using Optum® de-identified Electronic Health Record dataset (2007-2021). Eligible patients had ≥2 instances of IRD diagnoses (ICD-9/10-CM) ≥30 days apart (2007-2021) and ≥1 healthcare visit ≥30 days before their 1st IRD diagnosis. The cohorts were 1) those with blindness diagnosis codes or terms identified by natural language processing in their records after 1st IRD diagnosis only, 2) those with no blindness diagnoses/terms. Kaplan-Meier analyses reported time from IRD diagnosis to SVI in Cohort 1. Patient characteristics and medical comorbidities were described, and outcomes were reported from 1st SVI for Cohort 1 and 1st IRD for Cohort 2, with sensitivity analysis reporting outcomes from 1st IRD for both cohorts.
Results :
10,176 patients were included (2,057 Cohort 1; 8,119 Cohort 2). Mean age was 51 vs 55 years, 44% of each cohort were male, 79% vs 81% were Caucasian, mean baseline Charlson Comorbidity Index was 0.59 vs 0.42. Mean baseline and follow-up durations were 7.1 vs 5.9 and 4.0 vs 4.5 years. Mean (SD) time from 1st IRD to SVI was 2.61 (2.48) years. Cohort 1 was significantly associated (hazard ratio [HR], 95% confidence interval [CI]) with new onset of medical comorbidities including congestive heart failure (1.37, 1.11-1.69), chronic pulmonary disease (1.31, 1.14-1.50), dementia (1.87, 1.42-2.47), diabetes (1.32, 1.07-1.62), myocardial infarction (1.35, 1.03-1.77), paraplegia and hemiplegia (2.07, 1.34-3.19), peripheral vascular disease (1.31, 1.09-1.56), hearing loss (1.44, 1.10-1.88), depression and anxiety (1.25, 1.09-1.42), suicidal attempt or ideation (2.18, 1.37-3.49), compared to Cohort 2. The same conditions remained significant in the sensitivity analysis, plus cerebrovascular disease, liver disease, renal disease, hypertension, trauma.
Conclusions :
In this real-world data study, IRD patients with SVI were at significantly higher risk for cardiovascular and metabolic comorbidities and mental health disorders vs patients without evidence of SVI. Advances in IRD treatment and early detection aimed at deterring blindness may also potentially affect onset of certain medical comorbidities in IRD patients living with SVI.
This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.