Abstract
This study aimed to evaluate the medical and socioeconomic impacts of IRDs using the nationwide health database and a large hospital-based cohort. This retrospective cross-sectional cohort study used data from the nationwide National Health Insurance Research Database (NHIRD). All patients with IRD from January 2012 to December 2016 were selected from the NHIRD and matched with the general population at a ratio of 1:4. All variables, including comorbidities, medications, service utilization, and medical costs, within 1 year from the date of the IRD diagnosis, were analyzed. Disability data were retrieved from the Taiwan Inherited retinal degeneration Project (TIP), a medical center-based database. A total of 4447 and 17,788 subjects from the nationwide database were included in the IRD and control groups, respectively. The Charlson comorbidity index score was higher in the IRD group (0.74:0.52, p < 0.001). Yearly visits to the ophthalmology clinic were more frequent in the IRD group (6.80:1.06, p < 0.001), particularly to tertiary medical centers (p < 0.001). The IRD group showed greater odds ratios (OR) for metabolic syndrome-related comorbidities, including hypertension (OR = 1.18, 95% confidence interval (CI) 1.10 to 1.26) and diabetes (OR = 1.32, 95% CI 1.21 to 1.45), and double the average yearly medical cost (2104.3 vs. 1084.6 USD, p < 0.001) and ten times the yearly ophthalmology cost (369.1 vs. 36.1 USD, p < 0.001). The average disability level was 54.17% for all subjects. This study revealed the large medical and socioeconomic impacts of IRD on not only patients with IRD, but also their family members and the whole society.
Highlights
Inherited retinal degenerations (IRDs) are a group of severe retinal degenerative diseases with clinical and genetic heterogeneity
2011 (n = 2060), those who expired within 1 year after the first diagnosis (n = 42), and those without enrolment in the National Health Insurance Research Database (NHIRD) in 2012 (n = 57)
For the 4447 included patients with the population matched in terms the sex, year at a IRD,general the general population was was matched in terms of theof sex, age, andage, indexand yearindex at a ratio
Summary
Inherited retinal degenerations (IRDs) are a group of severe retinal degenerative diseases with clinical and genetic heterogeneity. Retinitis pigmentosa (RP) is the most common phenotype, with a prevalence of 1 in 3500 live births in Western countries [2]. Rod dystrophy, [4] Leber congenital amaurosis, [5] macular dystrophies (e.g., Stargardt disease, Best vitelliform macular dystrophy), congenital stationary night blindness, and some syndromic diseases with retinopathies, such as Bardet–Biedl syndrome and Usher syndrome. Visual impairment in patients with IRD could start at a young age and lead to serious disability for both work and activities of daily living
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