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10.1007/s00417-015-3142-8

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suck abstract from ncbi


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pmid26311262
      Graefes+Arch+Clin+Exp+Ophthalmol 2016 ; 254 (5 ): 865-72
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  • Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy #MMPMID26311262
  • Nõupuu K ; Lee W ; Zernant J ; Greenstein VC ; Tsang S ; Allikmets R
  • Graefes Arch Clin Exp Ophthalmol 2016[May]; 254 (5 ): 865-72 PMID26311262 show ga
  • PURPOSE: To describe a series of patients with Stargardt disease (STGD1) exhibiting a phenotype usually associated with hydroxychloroquine (HCQ) retinopathy on spectral domain-optical coherence tomography (SD-OCT). METHODS: Observational case series from Columbia University Medical Center involving eight patients with genetically-confirmed STGD1. Patients selected for the study presented no history of HCQ use. Horizontal macular SD-OCT scans and accompanying 488-nm autofluorescence (AF) images, color fundus photographs, and full-field electroretinograms were analyzed. RESULTS: All study patients exhibited an abrupt thinning of the parafoveal region or disruption of the outer retinal layers on SD-OCT resembling the transient HCQ retinopathy phenotype. Funduscopy and AF imaging revealed variations of bull's eye maculopathy (BEM). Five patients exhibited local fleck-like deposits around the lesion. Genetic screening confirmed two disease-causing ABCA4 mutations in five patients and one mutation in three patients. CONCLUSIONS: A transient SD-OCT phenotype ascribed to patients with HCQ retinopathy is associated with an early subtype of STGD1. This finding may also present with HCQ retinopathy-like BEM lesions on AF imaging and funduscopy. A possible phenotypic overlap is unsurprising, given certain shared mechanistic disease processes between the two conditions. A thorough work-up, including screening of genes that are causal in retinal dystrophies associated with foveal sparing, may prevent misdiagnosis of more ambiguous cases.
  • |ATP-Binding Cassette Transporters/*genetics [MESH]
  • |Adult [MESH]
  • |Antimalarials/*toxicity [MESH]
  • |Child [MESH]
  • |Electroretinography [MESH]
  • |Female [MESH]
  • |Genes, Recessive [MESH]
  • |High-Throughput Nucleotide Sequencing [MESH]
  • |Humans [MESH]
  • |Hydroxychloroquine/*toxicity [MESH]
  • |Macular Degeneration/*congenital/diagnosis/genetics [MESH]
  • |Male [MESH]
  • |Middle Aged [MESH]
  • |Mutation [MESH]
  • |Phenotype [MESH]
  • |Retinal Diseases/chemically induced/*diagnosis [MESH]
  • |Retrospective Studies [MESH]
  • |Stargardt Disease [MESH]
  • |Tomography, Optical Coherence [MESH]


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