Abstract
Purpose :
Early recognition of ocular symptoms and timely genetic testing of patients with Inherited Retinal Disease (IRD) can lead to better clinical management especially for patients with early-onset and/or rapid disease progression. The purpose of this study is to describe the diagnostic journey of patients with RPGR-related retinal degeneration.
Methods :
All patients with a pathogenic or likely pathogenic RPGR variant who were evaluated on >1 occasion by an IRD specialist from the Kellogg Eye Center were included. Clinical diagnosis, symptom onset, refractive error, family history of IRD, and genetic testing were extracted from patients’ charts. Age at symptom onset, clinical diagnosis, genetic diagnosis was identified. Proportional hazard modeling with right truncation was used to investigate the effect of family history on time between symptoms and diagnoses.
Results :
A total of 110 RPGR confirmed male patients were identified: 80 with Retinitis Pigmentosa (RP), 25 with a non-RP phenotype, and 5 diagnosed via genetic testing pre-symptomatically. 15 RPGR female patients with symptoms were identified (7 obligate, 4 at-risk, and 4 isolate). 85% of all subjects reported family history of IRD. In the male RP cohort, the median age of nyctalopia onset was 6y (range “always” to 42) and clinical diagnosis was 11y (3-42). For females, the median age of symptom onset was 11y (5-34) and clinical diagnosis was 14y (4-41). In the male non-RP cohort, median age of decreased central vision onset was 29y (“always” to 47), and clinical diagnosis was 34y (7-55). Median time from symptom onset to clinical diagnosis was 3y in the male RP cohort, 3.5y in the female cohort, and 4.5y in the male non-RP cohort. Time from symptoms to clinical diagnosis was shorter for those with a family history of IRD (p=0.048). Time from clinical to genetic diagnosis was much shorter for those who had genetic testing after 2017 than before (p<0.01).
Conclusions :
Increased awareness and education in recognizing early symptoms of IRDs, could translate to shorter time to reach clinical and genetic diagnosis. The availability of sponsored programs for genetic testing in recent years has likely shortened time to genetic diagnosis. Shorter time to clinical diagnosis in patients with family history was likely due to their knowledge of disease and symptoms from family members.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.