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Best vitelliform macular dystrophy potentially linked to irregular photoreceptors, normal RPE
Arch Ophthalmol. 2011;doi:10.1001/archophthalmol.2011.363.
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According to spectral-domain optical coherence tomography findings, Best vitelliform macular dystrophy may be associated with diffuse photoreceptor outer segment abnormalities atop a structurally normal retinal pigment epithelium.
Color fundus photographs and scans from the Spectralis OCT (Heidelberg Engineering) were obtained for 30 eyes of 15 patients with mutations in the BEST1 gene and compared with those of age-matched controls. A three-dimensional OCT segmentation algorithm
enabled calculation of the equivalent thickness of photoreceptors and retinal pigment epithelium (RPE).
Outcomes suggested vitelliform material is located in the subretinal space, above the RPE and below the outer segment tips. Drusen-like deposition of material below the RPE was also observed, and several patients showed a sub-RPE fibrotic nodule.
Patients with Best vitelliform macular dystrophy exhibited a mean photoreceptor thickness of 28.3 µm, while control patients measured 21.8 µm (P < .01). Notably, the mean RPE thickness did not significantly differ between groups; according to the study authors, this suggests that while the abnormal protein encoded by BEST1 is expressed in the RPE, primary impact occurs at the photoreceptor level.
Study limitations included the design, which was not longitudinal, as well as the availability of only one OCT image per eye.