TY - JOUR
T1 - Adult-onset vitelliform macular dystrophy secondary to a novel IMPG2 gene variant
AU - Shah, Saumya M.
AU - Schimmenti, Lisa A.
AU - Marmorstein, Alan D.
AU - Bakri, Sophie J.
N1 - Publisher Copyright:
© 2021 Lippincott Williams and Wilkins. All rights reserved.
PY - 2021/7/1
Y1 - 2021/7/1
N2 - 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.
AB - 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.
KW - IMPG2
KW - adult-onset vitelliform macular dystrophy
KW - genetic predisposition
KW - mutations
KW - vitelliform lesions
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U2 - 10.1097/ICB.0000000000000824
DO - 10.1097/ICB.0000000000000824
M3 - Article
C2 - 30300315
AN - SCOPUS:85085470325
SN - 1935-1089
VL - 15
SP - 356
EP - 358
JO - Retinal Cases and Brief Reports
JF - Retinal Cases and Brief Reports
IS - 4
ER -