Leveraging the Sight Outcomes Research Collaborative (SOURCE) Repository to Identify Patients with RPGR-Related Retinitis Pigmentosa

Abstract

Purpose : Identifying large numbers of patients with rare inherited retinal diseases (IRDs) such as RPGR-related X-linked retinitis pigmentosa (XLRP) is challenging as there is no specific ICD-10 diagnosis code for XLRP to locate these patients in Big Data registries. This has limited the ability to study the natural history of patients with IRDs. We leverage a new repository that captures more granular data to identify patients with XLRP.

Methods : Patients with XLRP were identified in the Sight Outcomes Research Collaborative (SOURCE) repository, which captures longitudinal clinical data on patients at health systems throughout the U.S. Genetic test reports were used to confirm the genetic cause of XLRP. Best corrected visual acuity (VA) was identified for each patient at each encounter. Clinical data from SOURCE was linked to structural (OCT) and functional testing (visual acuity, perimetry, ERG).

Results : Among the 162 patients identified with XLRP, 133 (82.1%) were males with genetically confirmed RPGR-RP, 25 (15.4%) were symptomatic female carriers, and 4 (2.5%) were probable cases.
The cohort consisted of 135 Whites (83.3%), 5 Blacks (3.1%), and 4 Asians (2.5%), and 6 (3.7%) were Hispanic. The mean/SD age at first encounter in the EHR was 27.4 (18.0) years; (27.6 (18.3) years for the subset with genetically confirmed RPGR-RP and 26.0 (16.1) years for the symptomatic female carriers). The median [IQR] best recorded visual acuity in the patient’s better seeing eye first encounter in the EHR was 20/40 [20/25––20/80] and the best recorded vision in the patient’s worse seeing eye at first EHR encounter was 20/50 [20/30––20/150]. Among males with genetically confirmed RPGR-RP, the median [IQR] best recorded vision in the patient’s better seeing eye at first encounter in the EHR was 20/40 [20/30––20/100] and the best recorded vision in the worse seeing eye at first EHR encounter was 20/60 [20/40––20/200].

Conclusions : It is now possible for researchers to attain a better understanding of the natural history, disease burden, patient diagnosis journey, and prognosis for large numbers of patients with rare IRDs such as XLRP. Ultra-orphan retinal genetic mutations can be studied to better understand etiology of vision loss associated with single or multiple gene mutations using the SOURCE repository.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.