Observational studyGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2016
Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy.
Observational study in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed, 21 citations in OpenAlex.
- Article
- Pathologic Genetic Mutations May Correlate with Poor Visual Outcome in Patients with Hydroxychloroquine Retinopathy.Ophthalmology and therapy · 2025Article
- Proposing Zebrafish as a Model for Stargardt Disease.Advances in experimental medicine and biology · 2025Review
- Exome sequencing and genome-wide association analyses unveils the genetic predisposition in hydroxychloroquine retinopathy.Eye (London, England) · 2024Article
- A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy.Genes · 2023Article
- An Overview of the Genetics ofGenes · 2021Review
- Identification of Four Novel Variants and Determination of Genotype-Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations.Frontiers in cell and developmental biology · 2021Article
- Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.Progress in retinal and eye research · 2020Review
- Quantitative Fundus Autofluorescence in HCQ Retinopathy.Investigative ophthalmology & visual science · 2020Observational
- CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION.Retina (Philadelphia, Pa.) · 2019Article
- Modification of theOphthalmic genetics · 2019Article
- Retinal dystrophies with bull's-eye maculopathy along with negative ERGs.Documenta ophthalmologica. Advances in ophthalmology · 2019Article
- Hydroxychloroquine retinopathy.Eye (London, England) · 2017Review
- The role of multimodal imaging and vision function testing inTherapeutic advances in ophthalmologyReview
- Unexpected Etiology in a Case of Bilateral Maculopathy.Case reports in ophthalmologyArticle
Corrections and comments
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Authors and funding
6 authors at 1 institution in 2 countries.
Funding
Abstract
purposeTo 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).
methodsObservational 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.
resultsAll 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.
conclusionsA 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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.