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

Justin J Arnett; Alexa Li; Shaden H Yassin; Robin Miller; Lori Taylor; Caitlin E Carter; Katayoon Shayan-Tabrizi; Shyamanga Borooah

doi:10.1016/j.ajoc.2022.101781

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

Am J Ophthalmol Case Rep. 2022 Dec 15:29:101781. doi: 10.1016/j.ajoc.2022.101781. eCollection 2023 Mar.

Authors

Justin J Arnett¹, Alexa Li¹, Shaden H Yassin¹, Robin Miller^{2

3}, Lori Taylor⁴, Caitlin E Carter^{2

3}, Katayoon Shayan-Tabrizi⁵, Shyamanga Borooah¹

Affiliations

¹ Viterbi Department of Ophthalmology, Shiley Eye Institute, University of California, San Diego, 9415 Campus Point Drive, La Jolla, CA, 92093, USA.
² Division of Pediatric Nephrology, Rady Children's Hospital San Diego, 3020 Children's Way, San Diego, CA, 92123, USA.
³ Department of Pediatrics, University of California, San Diego, 8910 Villa La Jolla Drive, La Jolla, CA, 92037, USA.
⁴ Coast Pediatrics, Del Mar, 12845 Pointe Del Mar, Suite 200, Del Mar, CA, 92014, USA.
⁵ Department of Pediatric Pathology, Rady Children's Hospital San Diego, 3020 Children's Way, San Diego, CA, 92123, USA.

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 inherited renal disease was performed identifying a hemizygous pathogenic variant c.2152C>T (p.Arg718*) in the Chloride Voltage-Gated Channel 5 (CLCN5) gene, confirming the diagnosis of X-linked Dent Disease. Following vitamin A supplementation, our patient reported resolution of nyctalopia and reversal of abnormal ERG findings were demonstrated.

Conclusions and importance: To our knowledge, this is the first case in the literature describing Dent disease solely presenting with ophthalmic symptoms of nyctalopia and abnormal electroretinogram findings that later reversed with vitamin A repletion. This case stresses the importance for clinicians to consider renal tubular disorders in the differential for VAD.

Keywords: Dent disease; Nyctalopia; Retinol binding protein; Vitamin A deficiency.

Publication types

Case Reports