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Cynthia Xin-Ya Qian, Dionisio Charran, Cameron R Strong, Timothy J Steffens, Thiran Jayasundera, John Heckenlively; Optical coherence tomography examination of the retinal pigment epithelium and vitelliform lesions in Best vitelliform macular dystrophy. Invest. Ophthalmol. Vis. Sci. 2017;58(8):3229.
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© ARVO (1962-2015); The Authors (2016-present)
To describe the anatomical changes and natural history of vitelliform lesions and the status of the retinal pigment epithelium (RPE) in Best vitelliform macular dystrophy (BVMD) using spectral-domain optical coherence tomography (SD-OCT).
Twenty patients with molecular confirmation of mutation in the BEST1 gene and twenty age-matched controls were included in this prospective comparative case series. Color fundus photographs, fundus autofluorescence and SD-OCT were obtained in both eyes in all subjects and these findings were compared between the two groups. Fifteen of the twenty patients with Best disease had more than one visit and imaging study from each visit was analyzed comparatively for change and progression over time as well.
BVMD patients demonstrated progressive disorganization and thinning of the submacular RPE on OCT as their disease progressed when compared to normal controls. Concurrent with the appearance of “egg yolk lesions”, the OCT showed a cleft in the outer retina, creating an apical and basal separation of retinal layers.
Our study suggests that in BVMD, subretinal vitelliform material accumulation leads to a clear separation of the outer retinal layers. The basal surface of the RPE manifests degeneration that slows or disrupts the water pump function. Patients with such lesions maintained reasonable visual acuity into the advanced vitelleruptive stages despite the disruption of normal anatomical structures. Eventually the apical complex of the vitelliform lesion degenerated and flattened, but with better function than expected with the degree of macular atrophy present.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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