Multifocal Best's disease: The importance of genetic tests

A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease

“…While ffERG findings are often normal in early BVMD and Stargardt disease, diminished scotopic and photopic responses can be expected in later-stage Stargardt disease ( 23 ). Only patients diagnosed with multifocal BVMD, the autosomal recessive form of the disease ( 27 ), will show abnormal ffERG results ( 28 , 29 ).…”

“…While ffERG findings are often normal in early BVMD and Stargardt disease, diminished scotopic and photopic responses can be expected in later stage Stargardt disease (20). Only patients diagnosed with multifocal Best disease, the autosomal recessive form of the disease (24), will show abnormal ffERG results (25,26). A possible explanation for the phenotypic similarity between the BVMD diagnosed in these patients and Stargardt disease lies in the histopathologic findings.…”

Multifocal Macular Lesions in a Middle-aged Woman

“…Recently, genetic testing via saliva testing has become a reliable and accessible resource that may be more cost-effective and convenient than electrophysiologic testing. 7 As more gene therapies become available for patients, genetic testing will have a greater influence on management and prognosis. 8 In this case, genetic test-ing provided a definitive diagnosis that helped rule out a potentially life-threatening diagnosis.…”