Pachyvitelliform Maculopathy: Clinical Features, Associated Factors, and Natural History.

Objective: To evaluate the prevalence, clinical features, associated factors, and natural history of Pachyvitelliform Maculopathy (PVM) within the pachychoroid disease spectrum (PDS).

Methods: Retrospective cohort study. Methods: Patients affected with PDS, evaluated at a single retina referral center between 2006 and 2024. Methods: Demographics, medical history, and imaging features were reviewed. PVM was diagnosed based on the presence of acquired vitelliform lesions (AVLs), identified as hyperreflective material above the retinal pigment epithelium (RPE) band on SD-OCT and corresponding hyperautofluorescence on FAF imaging. AVLs were tracked longitudinally using serial OCT. Methods: Factors associated with AVL development were assessed using multivariable logistic regression. The hazard of AVL persistence was evaluated with Cox regression. Complication rates were reported as absolute prevalence, and visual acuity (VA) changes were analyzed longitudinally using repeated measures modeling.

Results: Among 986 eyes with PDS, 48 (5%) demonstrated PVM. Key associations included recurrent fluid episodes (OR: 2.87, p=0.002), thinner outer nuclear layer (OR: 0.89, p=0.03), and choroidal folds (OR: 3.39, p=0.002). Subfoveal AVLs were most common, observed in 79% of cases. AVL typically developed at the apex of the subfoveal serous cavity or along its lateral edges, beginning with ellipsoid zone thickening, followed by suspended hyperreflective material settling onto the RPE and forming deposits. These deposits consolidated over time, appearing as "pachydrusen" or resembling the "double layer sign." ICGA highlighted localized choroidal vascular hyperpermeability at AVL sites. Subfoveal lesions, a thicker Haller layer, and increased peripapillary choroidal thickness were associated with reduced AVL resolution (all p < 0.05). Lesion turnover was slow (median 50 months); complications, including neovascularization (6%) and atrophy (4%), were rare; and VA remained stable over 7 years (p = 0.07).

Conclusions: PVM represents a distinct phenotype within PDS, characterized by prolonged lesion persistence, recurrent fluid, and a relatively benign visual prognosis. Structural choroidal changes and RPE dysfunction drive lesion formation and progression.