Adult-onset vitelliform macular dystrophy secondary to a novel IMPG2 gene variant

Saumya M. Shah, Lisa A. Schimmenti, Alan D. Marmorstein, Sophie J. Bakri

Research output: Contribution to journalArticlepeer-review


Purpose:To report a case of adult-onset vitelliform macular dystrophy in a patient who was found to have a previously unreported variant of the IMPG2 gene.Methods:Case report.Results:A 65-year-old white woman with no significant medical or ocular history presented with a complaint of persistent wavy vision for 10 months. On funduscopic examination, bilateral vitelliform lesions of approximately 1 mm in the right eye and 0.5 mm in the left eye were evident, with no choroidal neovascularization in either eye. The patient was diagnosed with adult-onset vitelliform macular dystrophy. Genetic testing revealed a single likely pathogenic variant of the IMPG2 gene that may explain the examination findings.Conclusion:Adult-onset vitelliform macular dystrophy is a common and relatively benign condition occurring in approximately 1 in 8,000 individuals. Although vitelliform lesions can be a manifestation of systemic diseases or be idiopathic, in a minority of patients, genetic predisposition may play a role. Mutations in four particular genes BEST1, PRPH2, IMPG1, and IMPG2 have been associated with some cases of adult-onset vitelliform macular dystrophy, with this particular gene variant of IMPG2 being previously unreported.

Original languageEnglish (US)
Pages (from-to)356-358
Number of pages3
JournalRetinal Cases and Brief Reports
Issue number4
StatePublished - Jul 1 2021


  • IMPG2
  • adult-onset vitelliform macular dystrophy
  • genetic predisposition
  • mutations
  • vitelliform lesions

ASJC Scopus subject areas

  • Ophthalmology


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