EP231: Ophthalmic findings associated with NEDD4L-related disorder: Novel finding in a patient and review of literature

Abstract

NEDD4L (Neural Precursor Cell Expressed, Developmentally Down-Regulated 4-Like) (OMIM# * 606384) is an E3 ubiquitin ligase that regulates channel internalization and turnover. NEDD4L plays an important role in the initiation of neuronal migration in the cortex and ventricular zone of the fetal brain. Periventricular nodular heterotopia-7 (PVNH7) (OMIM# 617201) is caused by heterozygous pathogenic variants in the NEDD4L gene. There have been 14 reported patients with NEDD4L-related disorder and the common findings from these reports include radiographic findings of PVNH, developmental delay, toe syndactyly, and cleft palate.