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2016 ; 254
(5
): 865-72
Nephropedia Template TP
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.