title: RETINAL PHENOTYPE IN A CASE OF LCHAD/TFP DEFICIENCY WITH LATE-STAGE DIAGNOSIS.
abstract: OBJECTIVE
  To report the retinal phenotype of a rare case of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD)/trifunctional protein (TFP) deficiency diagnosed in his late 40s with ocular findings of diffuse chorioretinal atrophy and bilateral retinoschisis.
  
  
  METHODS
  An acylcarnitine profile assay revealed LCHAD/TFP deficiency in a 45-year-old man with a history of high myopia, bilateral decreased vision, episodic rhabdomyolysis, and peripheral neuropathy. Ocular findings were evaluated with spectral domain optical coherence tomography (Spectralis OCT; Heidelberg Engineering, Heidelberg, Germany) and color fundus photography.
  
  
  RESULTS
  Spectral domain optical coherence tomography revealed severe bilateral macular retinoschisis. Subretinal fibrosis was noted in the left temporal macula with an associated lamellar macular hole. Fundus photographs demonstrated diffuse, symmetric chorioretinal atrophy characteristic of end-stage retinopathy, as previously reported in younger patients. Myopic staphylomas were evident in the posterior pole of both eyes. A trial of topical dorzolamide for 3 months resulted in no change in the retinal profile.
  
  
  CONCLUSIONS
  We report the retinal phenotype of a patient with LCHAD/TFP deficiency diagnosed later in life. To date, this is the oldest patient reported with LCHAD/TFP-associated retinopathy. Macular retinoschisis may represent a feature of the end-stage retinopathy due to the progressive myopia. The diagnosis of LCHAD/TFP deficiency should be considered in adult patients with a history rhabdomyolysis, neuropathy, and retinopathy, as they would not have undergone routine newborn screening before the late 90s.
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, Canada.
authors.forename: Jacob A
authors.initials: JA
authors.lastname: Knowles
authors.forename: Ioannis S
authors.initials: IS
authors.lastname: Dimopoulos
authors.forename: Ian M
authors.initials: IM
authors.lastname: MacDonald
mesh_terms: D009202:Cardiomyopathies / Q000473:pathology*; D015862:Choroid Diseases / Q000473:pathology*; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000473:pathology*; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase / Q000172:deficiency*; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000473:pathology*; D063991:Mitochondrial Trifunctional Protein / Q000172:deficiency*; D009422:Nervous System Diseases / Q000473:pathology*; D010641:Phenotype; D012164:Retinal Diseases / Q000473:pathology*; D041441:Retinoschisis / Q000473:pathology; D012206:Rhabdomyolysis / Q000473:pathology*
chemical_list: D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D063991:Mitochondrial Trifunctional Protein