Long-term Visual Outcomes in Pseudoxanthoma Elasticum-associated Choroidal Neovascularization: A National Database Study.

BACKGROUND AND

OBJECTIVE

This study aimed to describe the treatment burden and long-term visual outcomes in patients with pseudoxanthoma elasticum (PXE), a systemic disease involving calcification fragmentation of elastic fibers.

PATIENTS AND

METHODS

This was a retrospective, cross-sectional analysis of patients diagnosed with PXE between January 2015 and August 2024 in the Vestrum Health treatment and outcomes database. Patients with PXE were identified using ICD-9 and ICD-10 codes and natural language processing. Data were collected on patient demographics, type and number of treatments received, duration of follow-up, and visual acuity at presentation and follow-up visits.

RESULTS

A total of 248 eyes of 171 patients with PXE were included in the final analysis. The mean (± standard deviation [SD]) patient age was 68 (±18) years and 64% were female. The average follow-up duration was 3 years. A total of 197/248 eyes (79%) developed choroidal neovascularization (CNV). Of these, 70% (N = 138/197) received treatment with an anti-vascular endothelial growth factor (anti-VEGF) injection during the study period. Photodynamic therapy was performed in fewer than five patients. Bevacizumab (61%, N = 84/138) was the most common anti-VEGF received, followed by aflibercept (43%, N = 59/138) and ranibizumab (27%, N = 37/138). The mean (± SD) number of injections received in years 1, 3, and 5 were 5.9 (3.0), 5.2 (3.0), and 6.3 (2.9), respectively. For eyes receiving at least one treatment during the study period, the mean presenting visual acuity for those with sufficient follow-up (years 1, 3, and 5) was 59 (Snellen equivalent 20/66), 60 (Snellen equivalent 20/63), and 62 (Snellen equivalent 20/58) letters, respectively. On average, these eyes lost one (58 letters, Snellen equivalent 20/70), four (56 letters, Snellen equivalent 20/76), and seven (55 letters, Snellen equivalent 20/80) letters by years 1, 3, and 5, respectively.

CONCLUSION

CNV complicates the clinical course of most patients with PXE, necessitating treatment with anti-VEGF injections. This study highlights the refractory nature of PXE-related CNV, with the mean number of injections performed in years 1, 3 and 5 staying relatively constant. On average, eyes lost a moderate degree of vision during the study period.