Genotype-Specific Choroidal Characteristics in Retinitis Pigmentosa Revealed by UWF SS-OCTA

Research published in the International Journal of Retina and Vitreous quantified retinal and choroidal vascular changes in patients with Retinitis pigmentosa (RP) across five genotypes using ultra-widefield (UWF) full-range swept-source optical coherence tomography angiography (SS-OCTA). The study further investigated correlations between perfusion patterns and genetic subtypes.

Vascular defects were observed in all retinal and choroidal layers across all RP groups, with distinct patterns of damage that correlated with retinal function. Significant peripheral retinal hypoperfusion was found in the EYS, RPRH2, RPGR, and USH2A groups, whereas the CYP4V2 group exhibited a relatively greater reduction in central retinal perfusion. A linear correlation was also identified between the choroidal vessel index (CVI) and retinal function parameters, particularly in the RPGR group. These findings suggest that vascular dysfunction in RP may serve as a valuable diagnostic, prognostic, and therapeutic biomarker for disease management.

A 400-kHz swept-source OCTA system (BMizar, TowardPi Medical) was used to visualize and quantify ultra-widefield retinal and choroidal vascular abnormalities. The device enables efficient acquisition of comprehensive perfusion density parameters across retinal and choroidal layers for various scan sizes, offering a highly repeatable and promising tool for early detection and longitudinal disease management.

This study was conducted by Dr. Yu Rong and colleagues from the team led by Prof. Qing Chang and Prof. Jihong Wu at the Eye and ENT Hospital of Fudan University.

Link to the original article:

https://link.springer.com/article/10.1186/s40942-025-00706-0‍