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

CONCLUSIONS: The NDP 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 IQCB1-associated retinal degeneration and NDP 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.PMID:36426739 | DOI:10.1080/13816810.2022.2090011

Source: Ophthalmic Genetics - November 25, 2022 Category: Opthalmology Authors: Virginia Miraldi Utz Jared J Ebert Diana S Brightman Brittany N Simpson Stefanie Benoit Robert A Sisk Source Type: research