PMID- 26311262
OWN - NLM
STAT- MEDLINE
DCOM- 20170322
LR  - 20240109
IS  - 1435-702X (Electronic)
IS  - 0721-832X (Print)
IS  - 0721-832X (Linking)
VI  - 254
IP  - 5
DP  - 2016 May
TI  - Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy.
PG  - 865-72
LID - 10.1007/s00417-015-3142-8 [doi]
AB  - 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.
FAU - Noupuu, Kalev
AU  - Noupuu K
AD  - Department of Ophthalmology, Columbia University, Eye Research Annex Rm 202, 160 
      Ft Washington Ave, New York, NY, 10032, USA.
AD  - Department of Ophthalmology, University of Tartu, Tartu, Estonia.
FAU - Lee, Winston
AU  - Lee W
AD  - Department of Ophthalmology, Columbia University, Eye Research Annex Rm 202, 160 
      Ft Washington Ave, New York, NY, 10032, USA.
FAU - Zernant, Jana
AU  - Zernant J
AD  - Department of Ophthalmology, Columbia University, Eye Research Annex Rm 202, 160 
      Ft Washington Ave, New York, NY, 10032, USA.
FAU - Greenstein, Vivienne C
AU  - Greenstein VC
AD  - Department of Ophthalmology, Columbia University, Eye Research Annex Rm 202, 160 
      Ft Washington Ave, New York, NY, 10032, USA.
FAU - Tsang, Stephen
AU  - Tsang S
AD  - Department of Ophthalmology, Columbia University, Eye Research Annex Rm 202, 160 
      Ft Washington Ave, New York, NY, 10032, USA.
AD  - Department of Pathology & Cell Biology, Columbia University, New York, NY, USA.
FAU - Allikmets, Rando
AU  - Allikmets R
AD  - Department of Ophthalmology, Columbia University, Eye Research Annex Rm 202, 160 
      Ft Washington Ave, New York, NY, 10032, USA. rla22@cumc.columbia.edu.
AD  - Department of Pathology & Cell Biology, Columbia University, New York, NY, USA. 
      rla22@cumc.columbia.edu.
LA  - eng
GR  - P30 EY019007/EY/NEI NIH HHS/United States
GR  - R01 EY018213/EY/NEI NIH HHS/United States
GR  - R01 EY021163/EY/NEI NIH HHS/United States
GR  - R24 EY019861/EY/NEI NIH HHS/United States
PT  - Journal Article
PT  - Observational Study
DEP - 20150828
PL  - Germany
TA  - Graefes Arch Clin Exp Ophthalmol
JT  - Graefe's archive for clinical and experimental ophthalmology = Albrecht von 
      Graefes Archiv fur klinische und experimentelle Ophthalmologie
JID - 8205248
RN  - 0 (ABCA4 protein, human)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 0 (Antimalarials)
RN  - 4QWG6N8QKH (Hydroxychloroquine)
SB  - IM
MH  - ATP-Binding Cassette Transporters/*genetics
MH  - Adult
MH  - Antimalarials/*toxicity
MH  - Child
MH  - Electroretinography
MH  - Female
MH  - Genes, Recessive
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - Hydroxychloroquine/*toxicity
MH  - Macular Degeneration/*congenital/diagnosis/genetics
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Phenotype
MH  - Retinal Diseases/chemically induced/*diagnosis
MH  - Retrospective Studies
MH  - Stargardt Disease
MH  - Tomography, Optical Coherence
MH  - Young Adult
PMC - PMC4769982
MID - NIHMS719068
OTO - NOTNLM
OT  - ABCA4
OT  - Hydroxychloroquine toxicity
OT  - Phenocopy
OT  - Stargardt disease
COIS- 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.
EDAT- 2015/08/28 06:00
MHDA- 2017/03/23 06:00
PMCR- 2017/05/01
CRDT- 2015/08/28 06:00
PHST- 2015/06/04 00:00 [received]
PHST- 2015/08/17 00:00 [accepted]
PHST- 2015/08/10 00:00 [revised]
PHST- 2015/08/28 06:00 [entrez]
PHST- 2015/08/28 06:00 [pubmed]
PHST- 2017/03/23 06:00 [medline]
PHST- 2017/05/01 00:00 [pmc-release]
AID - 10.1007/s00417-015-3142-8 [pii]
AID - 10.1007/s00417-015-3142-8 [doi]
PST - ppublish
SO  - Graefes Arch Clin Exp Ophthalmol. 2016 May;254(5):865-72. doi: 
      10.1007/s00417-015-3142-8. Epub 2015 Aug 28.