Predicting mild familial exudative vitreoretinopathy with autosomal dominant inheritance using deep learning.

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is a genetically and phenotypically heterogeneous disorder in which identifying autosomal dominant Norrin/β-catenin (AD-N/BC)–associated disease is often challenging, particularly in mild cases. We investigated whether deep learning could identify color fundus images corresponding to AD-N/BC gene mutation carriers as defined by peripheral FA and individuals with similar...

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