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. 2025 Jul 1;25(1):351.
doi: 10.1186/s12886-025-04163-z.

Analysis of choriocapillaris vascular density in patients with retinitis pigmentosa caused by RPGR gene mutations

Carlo Gesualdo #  1 , Settimio Rossi #  2 , Clemente Maria Iodice  3 , Paolo Melillo  2 , Ernesto Marano  2 , Antonio Del Giudice  2 , Mauro Di Martino  2 , Francesco Testa  2 , Francesca Simonelli  2
Affiliations

Analysis of choriocapillaris vascular density in patients with retinitis pigmentosa caused by RPGR gene mutations

Carlo Gesualdo et al. BMC Ophthalmol. .

Abstract

Background: Anatomic features characterizing the onset and progression of Retinitis Pigmentosa (RP) are still not clear and increasing interest has grown towards the impaired retinal flow in such disease. However, to date there are still few and inconsistent data exploring the changes reflected in vascular plexuses during the disease course, in particular regarding Choriocapillaris (CC). Therefore, the purpose of this study aimed at evaluating the CC perfusion in a cohort of males with RPGR-related X-Linked RP (XLRP).

Methods: Best corrected visual acuity (BCVA), color fundus photograph, fundus autofluorescence (FAF), optical coherence tomography (OCT), OCT-angiography (OCTA) and microperimetry (MP) were performed in 13 XLRP patients (22 eyes) harboring mutations in RPGR. The percent perfused CC area (PPCA) was analyzed and correlated with the phenotypic variables and mutation location. Moreover, the PPCA of RPGR-related XLRP patients was compared with age-matched healthy controls.

Results: The PPCA of the cases was 25.4% ± 7.5%, while controls displayed a PPCA of 32.3% ± 6.1% (p < 0.002). Moreover, PPCA appeared to be not significantly correlated with any of the anatomical and functional parameters analyzed, nor with the age of the patients, the duration of the disease and with the genotype.

Conclusions: The PPCA resulted significantly reduced in patients with RPGR-related XLRP when compared to age-matched healthy controls.

Keywords: RPRG-related X-Linked retinitis pigmentosa; Choriocapillaris; Percent perfused choriocapillaris area.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: This study complied with the tenets of the Declaration of Helsinki and was approved by the Institutional Review Board of the University of Campania “Luigi Vanvitelli”. Additionally, all patients signed an informed consent for participation in the study. Consent for publication: Not applicable. Competing interests: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Workflow of image processing to measure PPCA
Fig. 2
Fig. 2
PPCA difference between a 37-year-old male with XLRP (A) compared to an age-matched healthy control (B). A significantly greater area of choriocapillaris hypoperfusion, which appear red in color, is evident when compared to the healthy control (23.3% vs. 33.3%, respectively)
Fig. 3
Fig. 3
Color fundus photography (A), fundus autofluorescence (B), microperimetry (C) and Spectral Domain Optical Coherence Tomography (D) of a patient with XLRP
Fig. 4
Fig. 4
Correlation analysis: BCVA– age (A-B); MS– age (C-D). A significant correlation of inverse proportionality between the two couples of parameters was observed
Fig. 5
Fig. 5
Correlation analysis: PPCA– CRT (A-B); PPCA–EZ (C-D); PPCA– FAF (E-F). No significant correlation between PPCA and the various parameters analyzed was observed
Fig. 6
Fig. 6
Correlation analysis: PPCA– age (A-B); PPCA– MS (C-D); PPCA– BCVA (E-F); PPCA– genotype (G-H). No significant correlation between PPCA and the various parameters analyzed was observed
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