Kalev Nõupuu1,2, Winston Lee1, Jana Zernant1, Vivienne C Greenstein1, Stephen Tsang1,3, Rando Allikmets4,5. 1. Department of Ophthalmology, Columbia University, Eye Research Annex Rm 202, 160 Ft Washington Ave, New York, NY, 10032, USA. 2. Department of Ophthalmology, University of Tartu, Tartu, Estonia. 3. Department of Pathology & Cell Biology, Columbia University, New York, NY, USA. 4. Department of Ophthalmology, Columbia University, Eye Research Annex Rm 202, 160 Ft Washington Ave, New York, NY, 10032, USA. rla22@cumc.columbia.edu. 5. Department of Pathology & Cell Biology, Columbia University, New York, NY, USA. rla22@cumc.columbia.edu.
Abstract
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.
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.
Authors: Kaoru Fujinami; Panagiotis I Sergouniotis; Alice E Davidson; Genevieve Wright; Ravinder K Chana; Kazushige Tsunoda; Kazuo Tsubota; Catherine A Egan; Anthony G Robson; Anthony T Moore; Graham E Holder; Michel Michaelides; Andrew R Webster Journal: Am J Ophthalmol Date: 2013-09 Impact factor: 5.258
Authors: Winston Lee; Kalev Nõupuu; Maris Oll; Tobias Duncker; Tomas Burke; Jana Zernant; Srilaxmi Bearelly; Stephen H Tsang; Janet R Sparrow; Rando Allikmets Journal: Invest Ophthalmol Vis Sci Date: 2014-08-19 Impact factor: 4.799
Authors: Frederick T Collison; Winston Lee; Gerald A Fishman; Jason C Park; Jana Zernant; J Jason McAnany; Rando Allikmets Journal: Retina Date: 2019-12 Impact factor: 4.256
Authors: Vivienne C Greenstein; Jose Ronaldo Lima de Carvalho; Rait Parmann; Luz Amaro-Quireza; Winston Lee; Donald C Hood; Stephen H Tsang; Janet R Sparrow Journal: Invest Ophthalmol Vis Sci Date: 2020-09-01 Impact factor: 4.799