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Clinicopathologic findings in Best vitelliform macular dystrophy
Qing Zhang1, Kent W Small, Hans E Grossniklaus
1Department of Ophthalmology, Emory University School of Medicine, Atlanta, GA, USA.
Purpose:
To correlate the clinical and histopathologic features of Best vitelliform macular dystrophy (BVMD).
Methods:
Two eyes were obtained postmortem from a patient with BVMD. The patient's clinical information was reviewed. Series sections of the globes were performed and sequentially stained with hematoxylin-eosin, periodic acid-Schiff or Masson trichrome. A section of the left macula was submitted for electron microscopic processing. Histopathologic findings were reconstructed in a scaled two-dimensional map and compared with fundus photography, fundus autofluorescence (FAF), fundus fluorescein angiography (FFA) and optical coherence tomography (OCT) images.
Results:
The macular lesion of the right eye was identified as a well-demarcated region with pigment, elevated submacular yellow material and subretinal fluid. This corresponded histopathologically to a well-circumscribed area of RPE hyperplasia, accumulation of lipofuscin in the RPE, deposition of granular material in the photoreceptors, macrophages and drusen. The left eye displayed a 1 disc diameter chorioretinal scar with surrounding shallow fluid and submacular pigment. This corresponded to RPE changes and a fibrocellular proliferation in the choriocapillaris.
Conclusion:
Histopathologic mapping revealed retinal edema, RPE abnormalities, drusen and a chorioretinal scar in BVMD that correlated with the fundus, FFA, FAF and OCT findings.
