When do patients with retinitis pigmentosa present to ophthalmologists? A multi-centre retrospective study

BACKGROUND: Planned gene therapies for retinitis pigmentosa (RP) depend on viable photoreceptors for efficacy. Understanding disease severity at presentation, and drivers that influence time to presentation is important when planning interventions. We examined features that influence RP severity at initial presentation.

METHODS: Multi-centre retrospective cohort study of RP patients at initial presentation. Disease severity was scored using ellipsoid zone (EZ) width on SD-OCT and logistic regression used to determine risk factors for advanced disease at presentation.

RESULTS: A total of 146 unrelated RP patients were included. Median age at onset and presentation was 40.5 (range 1-74) and 50.1 (range 3.9-81.8), respectively. Severe disease (<5° of remaining EZ width) was present in 28.1% of cases at presentation. Patients with family history of RP had greater odds of severe disease (OR 3.29, 95% CI 1.56, 6.95; p = 0.002), while male gender, race, age, syndromic features, and socioeconomic status did not. Patients with affected siblings (median EZ width 6.2°; p = 0.01), but not affected parents (median EZ width 9.4°; p = 0.99), presented with severe EZ loss compared to patients without family history (median EZ width 13.1°). Patients with affected siblings had delayed presentation (≥5 years; OR 5.76, 95% CI 1.817, 18.262; p = 0.003) compared to patients without family history.

CONCLUSIONS: Family history influences the stage of disease at which RP patients initially seek ophthalmology review. This has implications for patient counselling and the number of patients who may benefit from future therapies.