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Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy

  • Retinal Disorders
  • Published:
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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.

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Financial support

This study was supported, in part, by grants from the National Eye Institute/NIH EY021163, EY019861, EY018213 and EY019007 (Core Support for Vision Research), Foundation Fighting Blindness (Owings Mills, MD), and unrestricted funds from Research to Prevent Blindness (New York, NY) to the Department of Ophthalmology, Columbia University.

Conflict of interest

All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements), or non-financial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript.

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Authors and Affiliations

  1. Department of Ophthalmology, Columbia University, Eye Research Annex Rm 202, 160 Ft Washington Ave, New York, NY, 10032, USA

    Kalev Nõupuu, Winston Lee, Jana Zernant, Vivienne C. Greenstein, Stephen Tsang & Rando Allikmets

  2. Department of Ophthalmology, University of Tartu, Tartu, Estonia

    Kalev Nõupuu

  3. Department of Pathology & Cell Biology, Columbia University, New York, NY, USA

    Stephen Tsang & Rando Allikmets

Authors
  1. Kalev Nõupuu
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  2. Winston Lee
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  3. Jana Zernant
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  4. Vivienne C. Greenstein
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  5. Stephen Tsang
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  6. Rando Allikmets
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Correspondence to Rando Allikmets.

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Nõupuu, K., Lee, W., Zernant, J. et al. Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy. Graefes Arch Clin Exp Ophthalmol 254, 865–872 (2016). https://doi.org/10.1007/s00417-015-3142-8

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  • DOI: https://doi.org/10.1007/s00417-015-3142-8

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