Dent disease presenting with nyctalopia and electroretinographic correlates of vitamin A deficiency.

ABSTRACT:

Purpose

To report a unique case of Dent Disease presenting with nyctalopia associated with vitamin A deficiency and abnormal electroretinogram findings without prior systemic symptomatology.

Observations

A 16-year-old male presented with a several month history of nyctalopia and peripheral vision deficits. Central visual acuity, anterior and posterior segment examinations, and macular optical coherence tomography were unremarkable. Electroretinogram (ERG) testing revealed a rod-cone dystrophic pattern, with further workup demonstrating serum vitamin A deficiency (VAD). Laboratory evaluation revealed renal dysfunction and proteinuria with a significantly elevated urinary retinol-binding protein (RBP). Kidney biopsy showed glomerular and tubular disease.Genetic screening for i

SUBMITTER: Arnett JJ 

PROVIDER: S-EPMC9791604 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature