title: MULTIMODAL IMAGING AND ELECTRORETINOGRAPHY IN LONG-CHAIN 3-HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY.
abstract: OBJECTIVE
  To report a case of pigmentary retinopathy in long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency using multimodal imaging techniques.
  
  
  METHODS
  Case report.
  
  
  RESULTS
  An 8-year-old boy with a history of failure to thrive and a diagnosis of long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency was referred for examination. Examination revealed a pigmentary retinopathy with macular atrophy; electroretinography results were consistent with a rod-cone dystrophy. Fundus autofluorescence and optical coherence tomography revealed retinal pigment epithelium atrophy. Follow-up examination findings showed increased severity of retinopathy on electroretinography, with optical coherence tomography angiography revealing enhanced visualization of choroidal vessels.
  
  
  CONCLUSIONS
  This report reveals that long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency can be characterized as a progressive rod-cone dystrophy, with multi-modal imaging techniques used to describe this condition. In particular, optical coherence tomography angiography can be used to further characterize this condition.
authors.affiliation: *Department of Ophthalmology, Harkness Eye Institute, College of Physicians and Surgeons, Columbia University, New York, New York; and †Barbara & Donald Jonas Stem Cell & Regenerative Medicine Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology and Pathology & Cell Biology, Institute of Human Nutrition, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, New York.
authors.forename: James
authors.initials: J
authors.lastname: Lin
authors.forename: Katherine
authors.initials: K
authors.lastname: Boudreault
authors.forename: Stephen
authors.initials: S
authors.lastname: Tsang
mesh_terms: D009202:Cardiomyopathies / Q000150:complications*; D002648:Child; D002829:Choroid / Q000473:pathology; D004596:Electroretinography; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications*; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications*; D063991:Mitochondrial Trifunctional Protein / Q000172:deficiency*; D064847:Multimodal Imaging; D009422:Nervous System Diseases / Q000150:complications*; D012174:Retinitis Pigmentosa / Q000000981:diagnostic imaging* / Q000209:etiology; D012206:Rhabdomyolysis / Q000150:complications*; D041623:Tomography, Optical Coherence
chemical_list: D063991:Mitochondrial Trifunctional Protein