Hydroxychloroquine retinopathy in a 23-year-old male.

Purpose: To report a case of hydroxychloroquine (HCQ) retinopathy after long-term exposure in a 23-year-old male.

Methods: Multimodal imaging including fundus photography, fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT), and en face OCT were performed, in addition to functional testing with full-field electroretinography (ERG) and Humphrey visual field (HVF).

Results: A 23-year-old man with a history of juvenile systemic lupus erythematosus and HCQ treatment for 13 years at a dosage of 200 mg/d (cumulative dose: 949 grams) presented to the retinal clinic (DS). Although fundus photography and FAF were unremarkable, SD-OCT and en face OCT showed paracentral ellipsoid zone loss with thinning of the outer nuclear layer, OS greater than OD consistent with HCQ retinopathy. HVF 10-2 showed possible nasal loss OU. Genetic testing revealed heterozygous mutations in the CNGA1 and CRX genes but full-field ERG was unremarkable without evidence of a cone dystrophy. Family history was negative for genetic disease.

Conclusion: This report highlights a case of HCQ retinopathy in a young patient who started treatment at the age of 10 years. There are currently no specific guidelines for the screening of pediatric patients, and studies evaluating the effect of HCQ on children are lacking. Whether the genetic carrier status rendered the patient more susceptible to the toxic effect of HCQ remains to be determined.