Didanosine-Associated Retinal Toxicity in a Patient With a Mutation in the CRB1 Gene

Tamara L Lenis; Benjamin W Botsford; David Sarraf; Thanos D Papakostas

doi:10.1177/24741264211044599

Didanosine-Associated Retinal Toxicity in a Patient With a Mutation in the CRB1 Gene

J Vitreoretin Dis. 2021 Nov 10;6(4):329-331. doi: 10.1177/24741264211044599. eCollection 2022 Jul-Aug.

Authors

Tamara L Lenis¹, Benjamin W Botsford¹, David Sarraf², Thanos D Papakostas¹

Affiliations

¹ Retina Service, Department of Ophthalmology, Weill Cornell Medical College, New York, NY, USA.
² Retinal Disorders and Ophthalmic Genetics Division, Stein Eye Institute, UCLA, Los Angeles, CA, USA.

Abstract

Purpose: This article describes a case of didanosine (DDI)-associated retinal toxicity in a patient with a heterozygous pathogenic variant in the CRB1 gene.

Methods: Case report.

Results: A middle-aged patient with HIV controlled on HAART therapy, and a remote 10-year year history of treatment with DDI and tenofivir, presented with external ophthalmoplegia and well-circumscribed, midperipheral patterns of bilateral pigmentary retinopathy and chorioretinal atrophy in both eyes. Genetic testing revealed a heterozygous pathogenic variant in the CRB1 gene that encodes a protein (Crumbs homolog 1) involved in regulation of cell polarity and junctions and is localized adjacent to mitochondria in the ellipsoid and myoid area.

Conclusions: This case highlights a potential role for genetic susceptibility to retinal toxicity in DDI-associated retinal toxicity. Large, prospective pharmacogenomics studies may be informative to further elucidate the role of genetic risk factors in drug-induced retinal toxicity.

Keywords: CRB1; didanosine; toxicity.

Publication types

Case Reports