Pachyvitelliform Maculopathy: Clinical Features and Natural History.

Purpose: To evaluate the prevalence, clinical features, associated factors, and natural history of pachyvitelliform maculopathy (PVM) within the pachychoroid disease spectrum (PDS). Design: Retrospective cohort study. Subjects: Patients affected with PDS were evaluated at a single retina referral center between 2006 and 2024. Methods: Demographics, medical history, and imaging features were reviewed. Pachyvitelliform maculopathy was diagnosed based on the presence of acquired vitelliform lesions (AVLs), identified as hyperreflective material above the retinal pigment epithelium (RPE) band on spectral-domain OCT and corresponding hyperautofluorescence on fundus autofluorescence imaging. Acquired vitelliform lesions were tracked longitudinally using serial OCT. Main Outcome Measures: 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 (odds ratio [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. Acquired vitelliform lesion 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.” Indocyanine green angiography highlighted localized choroidal vascular hyperpermeability at AVL sites. Subfoveal lesions, a thicker Haller's 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: Pachyvitelliform maculopathy 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. Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.