Abstract
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.
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References
Mohler CW, Fine SL (1981) Long-term evaluation of patients with Best’s vitelliform dystrophy. Ophthalmology 88:688–692
Gass JDM (1977) Stereoscopic atlas of macular diseases: diagnosis and treatment, 2nd edn. Mosby, St Louis
Grossniklaus HE, Cingle KA, Yoon YD, Ketkar N, L’Hernault N, Brown S (2000) Correlation of histologic 2-dimensional reconstruction and confocal scanning laser microscopic imaging of choroidal neovascularization in eyes with age-related maculopathy. Arch Ophthalmol 118:625–629
Klien BA (1950) The heredodegeneration of the macula lutea. Am J Ophthalmol 33:371–379
Frangieh GT (1982) A histopathologic study of Best’s macular dystrophy. Arch Ophthalmol 100:1115–1121
Weingeist TA (1982) Histopathology of Best’s macular dystrophy. Arch Ophthalmol 100:1108–1114
O’Gorman S (1988) Histopathologic findings in Best’s vitelliform macular dystrophy. Arch Ophthalmol 106:1261–1268
Liu J, Itagaki Y, Ben-Shabat S, Nakanishi K, Sparrow JR (2000) The biosynthesis of A2E, a fluorophore of aging retina, involves the formation of the precursor, A2-PE, in the photoreceptor outer segment membrane. J Biol Chem 275:29354–29360
Querques G, Bux AV, Prato R, Iaculli C, Souied EH, Delle Noci N (2008) Correlation of visual function impairment and optical coherence tomography findings in patients with adult-onset foveomacular vitelliform macular dystrophy. Am J Ophthalmol 146:135–142
Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC (2008) Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet 82:19–31
Acknowledgment
Supported in part by an unrestricted departmental grant from Research to Prevent Blindness, Inc. (HEG)
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Zhang, Q., Small, K.W. & Grossniklaus, H.E. Clinicopathologic findings in Best vitelliform macular dystrophy. Graefes Arch Clin Exp Ophthalmol 249, 745–751 (2011). https://doi.org/10.1007/s00417-010-1587-3
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DOI: https://doi.org/10.1007/s00417-010-1587-3