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

Abstract

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
Volume15
Issue number4
DOIs
StatePublished - Jul 1 2021

ASJC Scopus subject areas

  • Ophthalmology

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