Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report.

Ophthalmic genetics(2023)

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摘要
The VUS likely represents a pathogenic variant given the FEVR phenotype in addition to retinal degeneration, creating a rare dual phenotype. The combination of low oxygen demand from the -associated retinal degeneration and variant may have led to a more attenuated FEVR presentation with uncertain prognosis. A molecular diagnosis informed ocular and renal surveillance, as well as the recurrence risk for future offspring.
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Dual phenotype,IQCB1,Leber congenital amaurosis,NDP,Norrie disease,familial exudative vitreoretinopathy,incidental finding,variant of uncertain significance
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