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10.1007/s00417-015-3142-8

http://scihub22266oqcxt.onion/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
  • Noupuu K; Lee W; Zernant J; Greenstein VC; Tsang S; Allikmets R
  • Graefes Arch Clin Exp Ophthalmol 2016[May]; 254 (5): 865-72 PMID26311262show ga
  • Purpose: To describe a series of Stargardt disease (STGD1) patients 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 8 patients with genetically-confirmed STGD1. Patients selected for the study presented no history of HCQ use. Horizontal macular SD-OCT scans and accompanying 488nm 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 5 patients and one mutation in 3 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 phenotypic overlap may not be surprising 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 the misdiagnoses of more ambiguous cases.
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