Stargardt disease: Multimodal imaging: A review

Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy, characterised by bilateral progressive central vision loss and subretinal deposition of lipofuscin‐like substances. Recent advances in molecular diagnosis and therapeutic options are complemented by the increasing recognition of new multimodal imaging biomarkers that may predict genotype and disease progression. Unique non‐invasive imaging features of STDG1 are useful for gene variant interpretation and may even provide insight into the underlying molecular pathophysiology. In addition, pathognomonic imaging features of STGD1 have been used to train neural networks to improve time efficiency in lesion segmentation and disease progression measurements. This review will discuss the role of key imaging modalities, correlate imaging signs across varied STGD1 presentations and illustrate the use of multimodal imaging as an outcome measure in determining the efficacy of emerging STGD1 specific therapies.

• Publication year

  2021

• Venue

  Clinical and Experimental Ophthalmology

• Publication date

  2021-05-20

• Fields of study

  Medicine

• Identifiers
  DOI 10.1111/ceo.13947PMID 34013643PMCID 8366508
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• The progression of Stargardt Disease as determined by fundus autofluorescence over a 24-month period (ProgStar Report No. 17).

  2023cited by this paper
• Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence

  2021influential reference
• Peripheral pigmented lesions in ABCA4-associated retinopathy

  2021cited by this paper
• Hyperlipofuscinosis With Subretinal Fibrosis and Choroidal Vascular Remodeling in Stargardt Disease.

  2021cited by this paper
• CLASSIFYING ABCA4 MUTATION SEVERITY USING AGE-DEPENDENT ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE-DERIVED TOTAL LESION SIZE

  2021cited by this paper
• NEGATIVE VESSEL REMODELING IN STARGARDT DISEASE QUANTIFIED WITH VOLUME-RENDERED OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY

  2021cited by this paper
• Automatic Segmentation in Multiple OCT Layers For Stargardt Disease Characterization Via Deep Learning

  2021cited by this paper
• Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence

  2021cited by this paper
• Stargardt disease: Multimodal imaging: A review

  2021cited by this paper
• Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia

  2021cited by this paper
• Correlation of Morphology and Function of Flecks Using Short-Wave Fundus Autofluorescence and Microperimetry in Patients With Stargardt Disease

  2021cited by this paper
• Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients

  2021cited by this paper
• Genotype-phenotype correlations in a Spanish cohort of 506 families with bi-allelic ABCA4 pathogenic variants.

  2020cited by this paper
• Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

  2020cited by this paper
• Factors Influencing Retinal Pigment Epithelium-Atrophy Progression Rate in Stargardt Disease

  2020cited by this paper
• Quantitative Fundus Autofluorescence in ABCA4-related retinopathy - Functional Relevance and Genotype-Phenotype Correlation.

  2020influential reference
• Deep learning segmentation of hyperautofluorescent fleck lesions in Stargardt disease

  2020cited by this paper
• Genotypes Predispose Phenotypes—Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies

  2020cited by this paper
• Analysis of retinal sublayer thicknesses and rates of change in ABCA4-associated Stargardt disease

  2020influential reference
• Retinal Boundary Segmentation in Stargardt Disease Optical Coherence Tomography Images Using Automated Deep Learning

  2020cited by this paper
• PROGRESSION OF ABCA4-RELATED RETINOPATHY-PROGNOSTIC VALUE OF DEMOGRAPHIC, FUNCTIONAL, GENETIC, AND IMAGING PARAMETERS.

  2020cited by this paper
• Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

  2020influential reference
• Re: Shen et al.: Natural history of autosomal recessive Stargardt disease in untreated eyes: a systematic review and meta-analysis of study and individual level data (Ophthalmology. 2019;126:1288-1296).

  2020cited by this paper
• The Australian Inherited Retinal Disease Registry and DNA Bank | Tasman Medical Journal

  2020cited by this paper
• Reply.

  2020cited by this paper
• Clinical features and molecular genetics of patients with ABCA4‐retinal dystrophies

  2020cited by this paper
• Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect

  2020cited by this paper
• Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease Symmetry

  2019influential reference
• CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION.

  2019cited by this paper
• Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 12-Month Period: ProgStar Report No. 11.

  2019cited by this paper
• ASSOCIATION BETWEEN GENOTYPE AND DISEASE PROGRESSION IN ITALIAN STARGARDT PATIENTS: A Retrospective Natural History Study.

  2019influential reference
• Functional Relevance and Structural Correlates of Near Infrared and Short Wavelength Fundus Autofluorescence Imaging in ABCA4-Related Retinopathy

  2019cited by this paper
• OCTA-Based Identification of Different Vascular Patterns in Stargardt Disease

  2019influential reference
• Peripapillary Sparing With Near Infrared Autofluorescence Correlates With Electroretinographic Findings in Patients With Stargardt Disease.

  2019cited by this paper
• Natural History of Autosomal Recessive Stargardt Disease in Untreated Eyes: A Systematic Review and Meta-analysis of Study- and Individual-Level Data.

  2019influential reference
• A Workshop on Measuring the Progression of Atrophy Secondary to Stargardt Disease in the ProgStar Studies: Findings and Lessons Learned

  2019cited by this paper
• Multi-platform imaging in ABCA4-Associated Disease

  2019cited by this paper
• The absence of fundus abnormalities in Stargardt disease

  2019influential reference
• High-Resolution Adaptive Optics in Vivo Autofluorescence Imaging in Stargardt Disease.

  2019cited by this paper
• Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography.

  2019cited by this paper
• Impact of segmentation density on spectral domain optical coherence tomography assessment in Stargardt disease

  2019cited by this paper
• Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study.

  2018cited by this paper
• Posterior Choroidal Stroma Reduces Accuracy of Automated Segmentation of Outer Choroidal Boundary in Swept Source Optical Coherence Tomography.

  2018cited by this paper
• Real-Time Imaging of Retinal Cell Apoptosis by Confocal Scanning Laser Ophthalmoscopy and Its Role in Glaucoma

  2018cited by this paper
• Comparison of Green Versus Blue Fundus Autofluorescence in ABCA4-Related Retinopathy

  2018cited by this paper
• The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.

  2018cited by this paper
• Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy

  2018influential reference
• Hyperreflective foci in Stargardt disease: 1-year follow-up

  2018cited by this paper
• The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

  2018cited by this paper
• Peripheral Pigmented Retinal Lesions in Stargardt Disease.

  2017cited by this paper
• Optical coherence tomography angiography

  2017cited by this paper
• Optical Coherence Tomography Angiography Findings in Stargardt Disease

  2017cited by this paper
• CHOROIDAL STRUCTURAL CHANGES AND VASCULARITY INDEX IN STARGARDT DISEASE ON SWEPT SOURCE OPTICAL COHERENCE TOMOGRAPHY

  2017cited by this paper
• Progression of Visual Acuity and Fundus Autofluorescence in Recent-Onset Stargardt Disease: ProgStar Study Report #4.

  2017cited by this paper
• Comparative analysis of autofluorescence and OCT angiography in Stargardt disease

  2017cited by this paper
• ULTRAWIDEFIELD AUTOFLUORESENCE IN ABCA4 STARGARDT DISEASE

  2017influential reference
• Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration

  2017cited by this paper
• THE EXPANDING CLINICAL SPECTRUM OF CHOROIDAL EXCAVATION IN MACULAR DYSTROPHIES

  2017cited by this paper
• Towards Treatment of Stargardt Disease: Workshop Organized and Sponsored by the Foundation Fighting Blindness

  2017cited by this paper
• Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent

  2017cited by this paper
• Differential Disease Progression in Atrophic Age-Related Macular Degeneration and Late-Onset Stargardt Disease.

  2017cited by this paper
• Peripheral Visual Fields in ABCA4 Stargardt Disease and Correlation With Disease Extent on Ultra-widefield Fundus Autofluorescence.

  2017cited by this paper
• Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9)

  2017cited by this paper
• Past, Present, and Future Concepts of the Choroidal Scleral Interface Morphology on Optical Coherence Tomography

  2017cited by this paper
• Classification of image artefacts in optical coherence tomography angiography of the choroid in macular diseases

  2016cited by this paper
• Quantitative Fundus Autofluorescence in Early and Intermediate Age-Related Macular Degeneration.

  2016cited by this paper
• Comparison of Short-Wavelength Reduced-Illuminance and Conventional Autofluorescence Imaging in Stargardt Macular Dystrophy

  2016cited by this paper
• En Face Spectral-Domain Optical Coherence Tomography for the Monitoring of Lesion Area Progression in Stargardt Disease

  2016influential reference
• COMPARISON OF MANUAL AND SEMIAUTOMATED FUNDUS AUTOFLUORESCENCE ANALYSIS OF MACULAR ATROPHY IN STARGARDT DISEASE PHENOTYPE

  2016cited by this paper
• Fluorescence Lifetime Imaging in Stargardt Disease: Potential Marker for Disease Progression.

  2016cited by this paper
• Optical Coherence Tomography Angiography

  2016cited by this paper
• Vascular abnormalities in patients with Stargardt disease assessed with optical coherence tomography angiography

  2016cited by this paper
• Dark Atrophy: An Optical Coherence Tomography Angiography Study.

  2016cited by this paper
• Phenotypic Variation in a Family With Pseudodominant Stargardt Disease.

  2016cited by this paper
• Progression of Late-Onset Stargardt Disease.

  2016cited by this paper
• The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1.

  2016cited by this paper
• Early-onset stargardt disease: phenotypic and genotypic characteristics.

  2015cited by this paper
• Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence tomography

  2015influential reference
• Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.

  2015cited by this paper
• Choroidal hyperreflective foci in Stargardt disease shown by spectral-domain optical coherence tomography imaging: correlation with disease severity.

  2015cited by this paper
• Near-infrared autofluorescence: its relationship to short-wavelength autofluorescence and optical coherence tomography in recessive stargardt disease.

  2015influential reference
• Quantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap.

  2015cited by this paper
• Flecks in Recessive Stargardt Disease: Short-Wavelength Autofluorescence, Near-Infrared Autofluorescence, and Optical Coherence Tomography.

  2015cited by this paper
• Cone and rod loss in Stargardt disease revealed by adaptive optics scanning light ophthalmoscopy.

  2015cited by this paper
• MULTIMODAL IMAGING AND MULTIFOCAL ELECTRORETINOGRAPHY DEMONSTRATE AUTOSOMAL RECESSIVE STARGARDT DISEASE MAY PRESENT LIKE OCCULT MACULAR DYSTROPHY

  2014cited by this paper
• Quantitative fundus autofluorescence in recessive Stargardt disease.

  2014cited by this paper
• Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease

  2014cited by this paper
• The external limiting membrane in early-onset Stargardt disease.

  2014influential reference
• Foveal sparing in Stargardt disease.

  2014influential reference
• Congenital hypertrophy of the retinal pigment epithelium: enhanced-depth imaging optical coherence tomography in 18 cases.

  2014cited by this paper
• Ultra-wide-field fluorescein angiography in retinal disease

  2014cited by this paper
• Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease.

  2014cited by this paper
• A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations.

  2013cited by this paper
• Square root transformation of geographic atrophy area measurements to eliminate dependence of growth rates on baseline lesion measurements: a reanalysis of age-related eye disease study report no. 26.

  2013cited by this paper
• Wide-field imaging of the retina.

  2013cited by this paper
• Abnormality in the external limiting membrane in early Stargardt Disease

  2013cited by this paper
• The potential of annexin-labelling for the diagnosis and follow-up of glaucoma

  2013cited by this paper
• Quantitative fundus autofluorescence in healthy eyes.

  2013influential reference
• Clinical and genetic characteristics of late-onset Stargardt's disease.

  2012cited by this paper
• Progression of retinal pigment epithelial atrophy in stargardt disease.

  2012cited by this paper

• Lateral Geniculate Nucleus Volume Assessed by 7 Tesla MRI 3D MT-Weighted SILENT Protocol in Patients with STARGARDT Disease—Pilot Study

  2025cites this paper
• AI-Assisted Optical Coherence Tomography Segmentation for Enhanced Diagnosis of Inherited Retinal Diseases

  2025cites this paper
• Flavoprotein Fluorescence Imaging in Stargardt Disease: Linking Metabolic Stress to Structural Damage

  2025cites this paper
• Advancing Insights into Pediatric Macular Diseases: A Comprehensive Review

  2025cites this paper
• Intersection of Stargardt Dystrophy and AIDS: A Case Report

  2025cites this paper
• Retinal Thickness Analysis Using Optical Coherence Tomography: Diagnostic and Monitoring Applications in Retinal Diseases

  2025cites this paper
• PEST Proteolysis Signals Containing Nuclear Protein Related Proteins in Eye and Eye Diseases:A Review.

  2025cites this paper
• Discrepancies Between Autofluorescence Imaging Modalities in CNGB3-Associated Achromatopsia and Correlation With Ellipsoid Zone Continuity

  2025cites this paper
• Characterizing Inner Retinal Changes in End-Stage Inherited Retinal Diseases That Might be Suitable for Optogenetic Therapies

  2025cites this paper
• Resolved Central Serous Chorioretinopathy Mimicking Hydroxychloroquine Toxicity: A Case Series and Literature Review

  2025cites this paper
• Physicochemical properties of ommochromes as natural antioxidants

  2025cites this paper
• Circular Perivascular Autofluorescence Pattern in Patients With Autoimmune Retinopathy

  2024cites this paper
• Insight into Retinal Dystrophy: Understanding Features and Treatment Strategies

  2024cites this paper
• Strabismus in an Adolescent With Stargardt Disease: An Atypical Presentation

  2024cites this paper
• Automated identification of fleck lesions in Stargardt disease using deep learning enhances lesion detection sensitivity and enables morphometric analysis of flecks

  2024cites this paper
• Retinal Pigment Epithelium Pigment Granules: Norms, Age Relations and Pathology

  2024cites this paper
• A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice

  2023cites this paper
• Stem Cell Therapy in Stargardt Disease: A Systematic Review

  2023cites this paper
• Macular neovascularisation in inherited retinal diseases: A review.

  2023cites this paper
• Optical Coherence Tomography and Optical Coherence Tomography Angiography in Pediatric Retinal Diseases

  2023cites this paper
• Response to “Letter to the editor” regarding “Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease”

  2023cites this paper
• Stargardt macular dystrophy and therapeutic approaches

  2023cites this paper
• Multimodal Phenomap of Stargardt Disease Integrating Structural, Psychophysical, and Electrophysiologic Measures of Retinal Degeneration

  2023cites this paper
• Analysis of the outer retinal bands in ABCA4 and PRPH2-associated retinopathy using optical coherence tomography.

  2023cites this paper
• Multimodal imaging in a case of stargardt's disease

  2022cites this paper
• Bilateral visual loss, behavioral changes, and overlooking in a young child with stargardt disease: Neurodiagnostic considerations

  2022cites this paper
• Evaluation of Local Rod and Cone Function in Stargardt Disease

  2022cites this paper
• SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE

  2022cites this paper
• Emerging opportunities for C3 inhibition in the eye.

  2022cites this paper
• Longitudinal analysis of functional and structural outcome measures in PRPH2-associated retinal dystrophy.

  2022cites this paper
• Catabolism of the Lipofuscin Cycloretinal by MsP1.

  2022cites this paper
• Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations

  2022cites this paper
• [Leber hereditary optic neuropathy: differential diagnosis].

  2022cites this paper
• Stargardt disease: Multimodal imaging: A review

  2021cites this paper
• Stargardt's Disease Diagnosed in Adults: Case Report

  2021cites this paper
• Genotype-Specific Lesion Growth Rates in Stargardt Disease

  2021cites this paper
• Photodegradation of Lipofuscin in Suspension and in ARPE-19 Cells and the Similarity of Fluorescence of the Photodegradation Product with Oxidized Docosahexaenoate

  2021cites this paper
• Stargardt disease and progress in therapeutic strategies

  2021cites this paper