title: PANRETINAL DEGENERATION ASSOCIATED WITH LONG-TERM HYDROXYCHLOROQUINE USE AND HETEROZYGOUS USH2A MUTATION.
abstract: OBJECTIVE
  To report a case of bilateral panretinal degeneration in a patient with long-term hydroxychloroquine exposure and positive for a heterozygous mutation in the USH2A gene.
  
  
  METHODS
  Retrospective case report. Multimodal imaging including spectral-domain optical coherence tomography, fundus autofluorescence, and fluorescein angiography was performed and the results are presented. Electroretinography findings are also described.
  
  
  RESULTS
  The authors report a 39-year-old patient with a history of hydroxychloroquine therapy for 20 years (cumulative dose of 2,774 g). Multimodal retinal imaging demonstrated bilateral paracentral outer retinal atrophy with spectral-domain optical coherence tomography and characteristic of hydroxychloroquine toxicity. Full-field electroretinography showed bilateral panretinal depression of the rod and cone responses. Mutational analysis revealed that the patient was a carrier for an autosomal recessive mutation in the USH2A gene.
  
  
  CONCLUSIONS
  We report a case of panretinal degeneration but with features characteristic of hydroxychloroquine retinopathy in a patient who was found to be a heterozygous carrier of the USH2A gene, a cause of recessive retinitis pigmentosa without hearing loss. Carrier status for a retinal degenerative mutation may have rendered this patient more susceptible to the retinotoxic effects of long-term hydroxychloroquine therapy.
authors.affiliation: *Stein Eye Institute, UCLA, Los Angeles, California; and †Greater Los Angeles VA Healthcare Center, Los Angeles, California.
authors.forename: Diana
authors.initials: D
authors.lastname: Katsman
authors.forename: Christian
authors.initials: C
authors.lastname: Sanfilippo
authors.forename: David
authors.initials: D
authors.lastname: Sarraf
mesh_terms: D000328:Adult; D004791:Enzyme Inhibitors / Q000009:adverse effects*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D006886:Hydroxychloroquine / Q000009:adverse effects*; D009154:Mutation; D012162:Retinal Degeneration / Q000139:chemically induced* / Q000235:genetics*
chemical_list: D004791:Enzyme Inhibitors; D016326:Extracellular Matrix Proteins; C112735:USH2A protein, human; D006886:Hydroxychloroquine