Localization of Multifocal Electroretinogram Abnormalities to the Lesion Site

Abstract

To determine the association between multifocal electroretinogram (mfERG) abnormalities and macular lesions, as shown by retinal photography and optical coherence tomography (OCT), in a 3-generation family with vitelliform macular dystrophy. Methods: Five family members were examined using OCT, mfERG, and retinal photography. To localize mfERG abnormalities in relation to retinal findings, we overlaid the mfERG trace arrays on the retinal images and aligned the mfERGs and OCT images in the 180°m eridian. Results: Family members had typical macular lesions, normal full-field ERGs, and reduced electro-oculogram light-dark ratios. The OCT images demonstrated variable lesion severity. Some individuals with good vision and normal-appearing fundi showed OCT abnormalities of the choroid and retinal pigment epithelium. The overlay technique revealed that the depressed mfERGs corresponded with the lesions detected by OCT and retinal photography. The latencies of mfERG components in the 2 central stimulus rings in our patients were often prolonged. Conclusions: The mfERG abnormalities matched the localization of the macular lesions in our patients. The latencies of the mfERG N1 and P1 components in the first 2 concentric stimulus rings were often significantly (Ͼ2 SDs) delayed, an observation that has not been previously reported, to our knowledge.

Quantitative Fundus Autofluorescence and Optical Coherence Tomography in Best Vitelliform Macular Dystrophy

“…40 Nevertheless, in most cases the ophthalmoscopically visible lesion is limited to the macula and abnormal multifocal electroretinograms (mfERGs) correspond precisely to the area of the lesion. 41 Recent findings from adaptive optics scanning laser ophthalmoscopy have also indicated that photoreceptor cells are normal in areas immediately adjacent to clinically visible lesion. 42 Thus, an abnormality of the nonlesion retina is not obvious.…”

Multimodal fundus imaging in Best vitelliform macular dystrophy

“…The few histopathological studies reported to date are conflicting in fundamental issues such as whether the primary tissue damage evolves with RPE or neurosensory retinal changes [28, 29, 41, 46–48]. Interpretations of pathophysiologic mechanisms based upon OCT findings in BVMD have also lacked agreement among investigators [19, 20, 49–54]. Some authors concluded that the initial morphological events in patients with BVMD also occur at the level of the RPE monolayer [49].…”

“…Clinical suspicion of BVMD is based on the typical macular findings initially described by Best, who recognized an evolving spectrum of vitelliform macular lesions with advancing age [16] often in the setting of a positive family history. The diagnosis is confirmed by an abnormal light rise on the EOG [17–19], or by the identification of BEST1 gene mutation [20]. …”

Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations inBEST1

“…However, the majority of the studies reported reduction in the P 1 amplitudes and delayed implicit times centrally in the macula, and better preserved retinal function in the periphery of the macula. 9,12,13,35,57,59,60 The morphological abnormalities in the retina of BVMD and AVMD patients have been studied by conventional time domain OCT and recently also by spectral domain or Fourier domain OCT in numerous studies. 27,61-66 Both Spaide 27 and Querques 66 reported that in BVMD patients vitelliform material appeared to accumulate on the outer retina and in the subretinal space, and may represent unphagocytized outer segments of photoreceptors.…”