Purpose: To investigate the relationship between morphologic and functional abnormalities in patients affected with adult-onset foveomacular vitelliform macular dystrophy (AFVD).

Design: Prospective, noncomparative observational study.

Methods: A complete ophthalmologic examination, including best-corrected visual acuity (BCVA), fundus examination, fundus-related perimetry, and optical coherence tomography (OCT), was performed in 20 consecutive AFVD patients. The stage of the disease and the thickness of the neuroepithelium at the foveola (neurosensory retina) were compared with the BCVA as well as with the type of scotoma, the average retinal sensitivity, and the location and stability of fixation.

Results: Thirty-five eyes of 20 consecutive patients (10 men and 10 women; mean age, 58.2 years) were graded as follows: 10 had vitelliform stage (stage 1), nine had pseudohypopyon stage (stage 2), 10 had vitelliruptive (stage 3), and six had atrophic stage (stage 4) disease. Reduced thickness of the neuroepithelium at the foveola and BCVA were statistically correlated to an advanced stage of the disease (P = .001 and P = .0062, respectively). Moreover, worse BCVA was correlated statistically to reduced thickness of the neuroepithelium at the foveola (r = 0.14; P = .02). Reduced thickness of the neuroepithelium at the foveola was correlated statistically to the development of absolute scotoma (P = .03), eccentric fixation (P = .01), and unstable fixation (P = .03).

Conclusions: OCT and fundus-related perimetry allow a correlation to be defined between foveal thickness and visual function and are useful tools to define better the degree of anatomic and functional impairment in AFVD patients.