OBJECTIVES: Choroideremia (CHM) is a rare inherited retinal disease (IRD) characterized by a gradual loss of vision eventually leading to blindness. The objective of this study was to assess the impact of CHM on daily activities, work activities, and healthcare resource utilization (HCRU).

METHODS: Data was collected using a prospective, patient-reported survey fielded between December 2020 and October 2021. Eligible participants included males with a genetically confirmed CHM diagnosis receiving treatment by a clinician with a specialty in ophthalmology. Participants were screened for eligibility and enrolled by one of eight participating physician-practices to complete an online survey assessing demographics, comorbidities, CHM-specific characteristics, use of a caregiver, HCRU, and activities impacted by CHM. For patients under age 18, the guardian/parent completed the patient interview.

RESULTS: 47 patients participated in the survey (age ranges: 5-17 years, n=6 [12.8%]; 18-29, n=9 [19.1%]; 30-39, n=8 [17.0%]; 40-49, n=12 [25.5%]; 50-64, n=5 (10.6%); 65+, n=7 [14.9%]). Most patients were white (n=35; 74.5%) and all had health insurance coverage. 34.0% (n=16) were diagnosed with retinitis pigmentosa prior to CHM-diagnosis; the most commonly-reported comorbidities were cataracts (n=1, 23.4%), anxiety (n=8, 17.0%), and depression (n=7, 14.9%). The average number of years from symptom onset to CHM-diagnosis was 9.6 (SD=12.6); the average number of years diagnosed with CHM was 18.7 (SD=17.5). The most common healthcare resources used to aid vision were: corrective eyewear (n=35, 74.5%), extra lighting (n=31, 66.0%), and use of a cane or walking stick (n=18; 38.3%). The activity most-reported as being affected by CHM was “participating in an activity you enjoy” (n=23, 48.9%). CHM affected job status, with 25.6% (n=11) of patients changing/leaving a job, 20.9% (n=9) retiring early, and 9.3% (n=4) working less or taking a leave of absence.

CONCLUSIONS: Choroideremia-related visual impairment is associated with negative impacts on both daily activities and work-related activities.