Pachy-reticular pseudodrusen associated with pachyvitelliform maculopathy

To characterize the phenotype of pachy-reticular pseudodrusen (pachy-RPD) associated with pachyvitelliform maculopathy (PVM).

A retrospective, case-control study of patients over 50 with pachy-RPD (choroidal thickness > 250 μm) associated with PVM. Acquired vitelliform lesions (AVL) without other comorbidities were included as controls. Medical records and multimodal imaging from two tertiary centers were analyzed, including structural optical coherence tomography (OCT), fundus autofluorescence, OCT angiography (OCTA), and dye-based angiography.

Twenty-five eyes of 17 patients (mean age 74 ± 11 years) fulfilled the inclusion criteria. Best-corrected visual acuity was 20/64 (range 20/32 to 20/250). Most of the lesions were unilateral (59%) with foveal involvement. Pachy-RPD/PVM eyes had smaller lesions, lower central macular thickness (p = 0.04), lesion height (p = 0.008), and lesion width (p < 0.001) compared to AVL eyes. Despite this, pachy-RPD/PVM eyes presented more frequent external limiting membrane discontinuities (56% vs. 27%, p = 0.03) and hypertransmission (68%) compared to AVL eyes (8%, p < 0.001). Six out of 25 eyes (24%) of PVM cases showed late-stage complications in the fellow eye, including type 1 macular neovascularization (4 eyes) and macular atrophy (2 eyes). These eyes exhibited thinning of the outer retina (306 ± 32 μm vs. 277 ± 13 μm, p = 0.007) and macular cube (9.1 ± 1.0 mm³ vs. 8.1 ± 0.4 mm³, p = 0.01).

Pachy-RPD and PVM represent a phenotypic variant within the heterogenous spectrum of vitelliform lesions. The present study highlights distinct imaging and morphological features of pachy-RPD/PVM compared to AVL, revealing a stronger association between choroidal status, outer retina involvement, and hypertransmission.