UNUSUAL EARLY-ONSET VITELLIFORM DYSTROPHY POSSIBLY LINKED TO THE INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN-1 P.LEU154PRO MUTATION

Purpose:To describe a case of symptomatic outer retinal disruption in a patient heterozygous for the p.Leu154Pro interphotoreceptor matrix proteoglycan-1 (IMPG1) mutation implicated in adult-onset foveomacular vitelliform dystrophy.Methods:Observational case report.Results:We describe a case of a 25-year-old female patient with symptomatic scotoma and vision decrease who exhibited bilateral small foveal yellow spots. Optical coherence tomography revealed disorganization and decreased reflectance of the foveal ellipsoid and interdigitation zones in the left eye more than in the right eye. Fundus autofluorescence imaging showed minimal findings, and dye angiography was unrevealing. Multifocal electroretinogram revealed slightly decreased retinal sensitivity in the central retina of the left eye. Genetic testing identified a heterozygous p.Leu154Pro mutation in the IMPG1 gene.Conclusion:The p.Leu154Pro IMPG1 mutation may cause symptomatic outer retinal disturbance in the heterozygous state. Further studies are necessary.