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Andressa Zanini Fantato Quercia, Sung Eun Song Watanabe, Paula Yuri Sacai, Anna Gabriella Muniz; Multimodal imaging of occult macular dystrophy. Invest. Ophthalmol. Vis. Sci. 2019;60(9):1842. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
Occult macular dystrophy (OMD) is a hereditary macular dystrophy and is characterized by a progressive decrease of visual acuity without any visible abnormality of the fundus. The diagnosis is possible through the electrophysiological study that presents normal photoreceptors function (rod and cone components) by the full-field electroretinogram and abnormal focal macular by the multifocal electroretinogram. This case report describes multimodal imaging changes and longitudinal clinical outcomes of occult macular dystrophy.
A 41-year-old Japanese descendant woman with progressively blurred vision in both eyes for 4 years associated with nyctalopia and photophobia was evaluated. Retinal structure was assessed by spectral-domain optical coherence tomography (SD-OCT), OCT-Angiography, fluorescein angiography, fundus infrared reflectance and autofluorescence. Clinical findings were correlated with visual acuity, visual field, color vision test, full field electroretinogram as well as multifocal electroretinogram (mf-ERG). The genetic tests confirmed c.2878T>C mutations in RP1L1.
The patient demonstrated worsening of visual acuity along 7 years of follow-up from 20/80 to 20/160 in both eyes. The fundus images demonstrated a circular area with increased AF signal at the fovea and blurred subfoveal ellipsoid zone in SD-OCT. Fluorescein angiography was unremarkable. Marked reduced macular response was demonstrated with mf-ERG since first examination and progressive reduction of amplitude was observed during the follow-up. Full field ERG remained unchanged and within normal limits. Areas of dysfunction were found to be larger than observed from morphological alteration.
We presented a multimodal imaging analysis and electrophysiologic features of occult macular dystrophy. These results suggested progressive loss of macular function and mf-ERG can be useful tool in early diagnostic and detecting progression of the disease.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
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