Research & Literature

Flecks in Recessive Stargardt Disease: Short-Wavelength Autofluorescence, Near-Infrared Autofluorescence, and Optical Coherence Tomography.

Sparrow JR, Marsiglia M, Allikmets R, et al.

Investigative ophthalmology & visual science 2015; (56(8)):5029-39 doi:10.1167/iovs.15-16763.

Insights into the Molecular Properties of ABCA4 and Its Role in the Visual Cycle and Stargardt Disease.

Molday RS

Progress in molecular biology and translational science 2015; (134()):415-31.

Can Vitamin A be Improved to Prevent Blindness due to Age-Related Macular Degeneration, Stargardt Disease and Other Retinal Dystrophies?

Saad L, Washington I

Advances in experimental medicine and biology 2016; (854()):355-61 doi:10.1007/978-3-319-17121-0_47.

Clinical applications of fundus autofluorescence in retinal disease.

Yung M, Klufas MA, Sarraf D

International journal of retina and vitreous 2016; (2()):12 doi:10.1186/s40942-016-0035-x.

ULTRAWIDEFIELD AUTOFLUORESENCE IN ABCA4 STARGARDT DISEASE.

Klufas MA, Tsui I, Sadda SR, et al.

Retina (Philadelphia, Pa.) 2018; (38(2)):403-415 doi:10.1097/IAE.0000000000001567.

Incidence of Atrophic Lesions in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 5.

Strauss RW, Muñoz B, Ho A, et al.

JAMA ophthalmology 2017; (135(7)):687-695 doi:10.1001/jamaophthalmol.2017.1121.

Insights into autofluorescence patterns in Stargardt macular dystrophy using ultra-wide-field imaging.

Kumar V

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2017; (255(10)):1917-1922 doi:10.1007/s00417-017-3736-4.

[Contribution of multimodal imaging in the various stages of Stargardt disease].

El Matri L, Falfoul Y, Kortli M, et al.

Journal francais d'ophtalmologie 2017; (40(8)):666-675 doi:10.1016/j.jfo.2017.05.008.

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

Strauss RW, Muñoz B, Ho A, et al.

JAMA ophthalmology 2017; (135(11)):1232-1241 doi:10.1001/jamaophthalmol.2017.4152.

Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration.

Molday LL, Wahl D, Sarunic MV, Molday RS

Human molecular genetics 2018; (27(2)):295-306 doi:10.1093/hmg/ddx400.

Dual AAV Vectors for Stargardt Disease.

Trapani I

Methods in molecular biology (Clifton, N.J.) 2018; (1715()):153-175 doi:10.1007/978-1-4939-7522-8_11.

Long-term follow-up of autosomal dominant Stargardt macular dystrophy (STGD3) subjects enrolled in a fish oil supplement interventional trial.

Choi R, Gorusupudi A, Bernstein PS

Ophthalmic genetics 2018; (39(3)):307-313 doi:10.1080/13816810.2018.1430240.

Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?

Donato L, Scimone C, Rinaldi C, et al.

Investigative ophthalmology & visual science 2018; (59(2)):843-857 doi:10.1167/iovs.17-22962.

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.

Nassisi M, Mohand-Saïd S, Dhaenens CM, et al.

International journal of molecular sciences 2018; (19(8)) doi:10.3390/ijms19082196.

Variants in the ABCA4 gene in a Brazilian population with Stargardt disease.

Salles MV, Motta FL, Martin R, et al.

Molecular vision 2018; (24()):546-559.

An AAV Dual Vector Strategy Ameliorates the Stargardt Phenotype in Adult Abca4 Mice.

McClements ME, Barnard AR, Singh MS, et al.

Human gene therapy 2019; (30(5)):590-600 doi:10.1089/hum.2018.156.

Expression of ABCA4 in the retinal pigment epithelium and its implications for Stargardt macular degeneration.

Lenis TL, Hu J, Ng SY, et al.

Proceedings of the National Academy of Sciences of the United States of America 2018; (115(47)):E11120-E11127 doi:10.1073/pnas.1802519115.

Cross-Sectional and Longitudinal Assessment of Retinal Sensitivity in Patients With Childhood-Onset Stargardt Disease.

Tanna P, Georgiou M, Aboshiha J, et al.

Translational vision science & technology 2018; (7(6)):10 doi:10.1167/tvst.7.6.10.

Occult Macular Dystrophy.

Tsang SH, Sharma T

Advances in experimental medicine and biology 2018; (1085()):103-104 doi:10.1007/978-3-319-95046-4_19.

Stargardt Disease.

Tsang SH, Sharma T

Advances in experimental medicine and biology 2018; (1085()):139-151 doi:10.1007/978-3-319-95046-4_27.

Factors influencing the choice of low-vision devices for visual rehabilitation in Stargardt disease.

Das K, Gopalakrishnan S, Dalan D, et al.

Clinical & experimental optometry 2019; (102(4)):426-433 doi:10.1111/cxo.12867.

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

Ervin AM, Strauss RW, Ahmed MI, et al.

Translational vision science & technology 2019; (8(2)):16 doi:10.1167/tvst.8.2.16.

Natural History of Autosomal Recessive Stargardt Disease in Untreated Eyes: A Systematic Review and Meta-analysis of Study- and Individual-Level Data.

Shen LL, Sun M, Grossetta Nardini HK, Del Priore LV

Ophthalmology 2019; (126(9)):1288-1296 doi:10.1016/j.ophtha.2019.05.015.

Dual ABCA4-AAV Vector Treatment Reduces Pathogenic Retinal A2E Accumulation in a Mouse Model of Autosomal Recessive Stargardt Disease.

Dyka FM, Molday LL, Chiodo VA, et al.

Human gene therapy 2019; (30(11)):1361-1370 doi:10.1089/hum.2019.132.

A Family Affected by Novel C213W Mutation in PRPH2: Long-Term Follow-Up of CNV Secondary to Pattern Dystrophy.

Lee CS, Leys M

Ophthalmic surgery, lasers & imaging retina 2020; (51(6)):354-362 doi:10.3928/23258160-20200603-06.

Long-term safety and tolerability of subretinal transplantation of embryonic stem cell-derived retinal pigment epithelium in Asian Stargardt disease patients.

Sung Y, Lee MJ, Choi J, et al.

The British journal of ophthalmology 2021; (105(6)):829-837 doi:10.1136/bjophthalmol-2020-316225.

Fundus autofluorescence imaging.

Schmitz-Valckenberg S, Pfau M, Fleckenstein M, et al.

Progress in retinal and eye research 2021; (81()):100893 doi:10.1016/j.preteyeres.2020.100893.

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

Runhart EH, Khan M, Cornelis SS, et al.

JAMA ophthalmology 2020; (138(10)):1035-1042 doi:10.1001/jamaophthalmol.2020.2990.

Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration.

Curtis SB, Molday LL, Garces FA, Molday RS

Human mutation 2020; (41(11)):1944-1956 doi:10.1002/humu.24100.

[New possibilities in the treatment of Stargardt disease].

Zhorzholadze NV, Sheremet NL, Tanas AS, Strelnikov VV

Vestnik oftalmologii 2020; (136(4. Vyp. 2)):333-343 doi:10.17116/oftalma2020136042333.

Stargardt disease masquerades.

Ricca AM, Han IC, Sohn EH

Current opinion in ophthalmology 2021; (32(3)):214-224 doi:10.1097/ICU.0000000000000750.

Commentary on "Evidence of complement dysregulation in outer retina of Stargardt disease donor eyes".

Dhooge PPA, Mulders TWF, Hoyng CCB

Redox biology 2021; (45()):101957 doi:10.1016/j.redox.2021.101957.

Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.

Qu LH, Jin X, Zeng C, et al.

Bioscience reports 2021; (41(6)) doi:10.1042/BSR20203497.

Automatic Segmentation in Multiple OCT Layers For Stargardt Disease Characterization Via Deep Learning.

Mishra Z, Wang Z, Sadda SR, Hu Z

Translational vision science & technology 2021; (10(4)):24 doi:10.1167/tvst.10.4.24.

Lutein and zeaxanthin reduce A2E and iso-A2E levels and improve visual performance in Abca4-/-/Bco2-/- double knockout mice.

Arunkumar R, Gorusupudi A, Li B, et al.

Experimental eye research 2021; (209()):108680 doi:10.1016/j.exer.2021.108680.

Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry.

Runhart EH, Dhooge P, Meester-Smoor M, et al.

Acta ophthalmologica 2022; (100(4)):395-402 doi:10.1111/aos.14996.

Retinol binding protein 4 antagonists and protein synthesis inhibitors: Potential for therapeutic development.

Kim N, Priefer R

European journal of medicinal chemistry 2021; (226()):113856 doi:10.1016/j.ejmech.2021.113856.

Stargardt Disease: Gene Therapy Strategies for ABCA4.

Ku CA, Yang P

International ophthalmology clinics 2021; (61(4)):157-165 doi:10.1097/IIO.0000000000000375.

Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease.

Scortecci JF, Molday LL, Curtis SB, et al.

Nature communications 2021; (12(1)):5902 doi:10.1038/s41467-021-26161-7.

C20D3-Vitamin A Prevents Retinal Pigment Epithelium Atrophic Changes in a Mouse Model.

Zhang D, Robinson K, Washington I

Translational vision science & technology 2021; (10(14)):8 doi:10.1167/tvst.10.14.8.

Visual Field Characteristics in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report No. 3.

Ahn SJ, Yang L, Tsunoda K, et al.

Investigative ophthalmology & visual science 2022; (63(1)):12 doi:10.1167/iovs.63.1.12.

Late-onset Stargardt disease.

Alsberge JB, Agarwal A

American journal of ophthalmology case reports 2022; (26()):101429 doi:10.1016/j.ajoc.2022.101429.

Mechanisms of Feedback Regulation of Vitamin A Metabolism.

O'Connor C, Varshosaz P, Moise AR

Nutrients 2022; (14(6)) doi:10.3390/nu14061312.

Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.

Wang Y, Sun W, Zhou J, et al.

Investigative ophthalmology & visual science 2022; (63(5)):28 doi:10.1167/iovs.63.5.28.

Impact of inherited retinal diseases on Canadian patients and families: a mixed-methods study.

Kherani IZ, Andrews C, Pereira JA, et al.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2023; (58(6)):532-538 doi:10.1016/j.jcjo.2022.06.021.

Cell-autonomous lipid-handling defects in Stargardt iPSC-derived retinal pigment epithelium cells.

Farnoodian M, Bose D, Khristov V, et al.

Stem cell reports 2022; (17(11)):2438-2450 doi:10.1016/j.stemcr.2022.10.001.

Membrane Attack Complex Mediates Retinal Pigment Epithelium Cell Death in Stargardt Macular Degeneration.

Ng ESY, Kady N, Hu J, et al.

Cells 2022; (11(21)) doi:10.3390/cells11213462.

Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene.

Sajovic J, Meglič A, Volk M, et al.

Genes 2023; (14(2)) doi:10.3390/genes14020291.

Electrophysiological Evaluation of Macular Dystrophies.

Chiang TK, Yu M

Journal of clinical medicine 2023; (12(4)) doi:10.3390/jcm12041430.

MACULAR ATROPHY AND PHENOTYPIC VARIABILITY IN AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY DUE TO PROM1 MUTATION.

Ricca AM, Han IC, Hoffmann J, et al.

Retina (Philadelphia, Pa.) 2023; (43(7)):1165-1173 doi:10.1097/IAE.0000000000003784.

Efficient correction of ABCA4 variants by CRISPR-Cas9 in hiPSCs derived from Stargardt disease patients.

Siles L, Ruiz-Nogales S, Navinés-Ferrer A, et al.

Molecular therapy. Nucleic acids 2023; (32()):64-79 doi:10.1016/j.omtn.2023.02.032.

Split AAV8 Mediated ABCA4 Expression for Gene Therapy of Mouse Stargardt Disease (STGD1).

Li R, Jing Q, She K, et al.

Human gene therapy 2023; (34(13-14)):616-628 doi:10.1089/hum.2023.017.

Macular Pigment Carotenoids and Bisretinoid A2E.

Arunkumar R, Bernstein PS

Advances in experimental medicine and biology 2023; (1415()):15-20 doi:10.1007/978-3-031-27681-1_3.

Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy.

Bianco L, Arrigo A, Antropoli A, et al.

JAMA ophthalmology 2023; (141(9)):826-833 doi:10.1001/jamaophthalmol.2023.3188.

Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study.

Sajovic J, Meglič A, Fakin A, et al.

Genes 2023; (14(7)) doi:10.3390/genes14071394.

Stem Cell Therapy in Stargardt Disease: A Systematic Review.

Moghadam Fard A, Mirshahi R, Naseripour M, Ghasemi Falavarjani K

Journal of ophthalmic & vision research 2023; (18(3)):318-327 doi:10.18502/jovr.v18i3.13780.

Clinical profile and demographic distribution of Stargardt disease phenotypes: An Electronic medical record-driven big data analytics from a multitier eye care network.

Das AV, Venugopal R, Takkar B, et al.

Indian journal of ophthalmology 2023; (71(10)):3407-3411 doi:10.4103/IJO.IJO_3290_22.

Updates on Emerging Interventions for Autosomal Recessive ABCA4-Associated Stargardt Disease.

Wang L, Shah SM, Mangwani-Mordani S, Gregori NZ

Journal of clinical medicine 2023; (12(19)) doi:10.3390/jcm12196229.

Genetic and Clinical Features of ABCA4-Associated Retinopathy in a Japanese Nationwide Cohort.

Mizobuchi K, Hayashi T, Tanaka K, et al.

American journal of ophthalmology 2024; (264()):36-43 doi:10.1016/j.ajo.2024.03.007.

Multimodal in-vivo maps as a tool to characterize retinal structural biomarkers for progression in adult-onset Stargardt disease.

Pedersen HR, Gilson SJ, Hagen LA, et al.

Frontiers in ophthalmology 2024; (4()):1384473 doi:10.3389/fopht.2024.1384473.

Novel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance.

Gregory-Evans K, Kolawole OU, Molday RS, Gregory-Evans CY

Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 2024; (247(4)):231-240 doi:10.1159/000540361.

Target in Sight: A Comprehensive Review of Hydroxychloroquine-Induced Bull's Eye Maculopathy.

Snow Z, Seely K, Barrett S, et al.

Current ophthalmology reports 2024; (12(3)):38-48 doi:10.1007/s40135-024-00321-6.

Distinguishing ABCA4 from PRPH2-related disease: qualitative analysis of examination and imaging features.

Fan KC, Wong CW, Nichols BA, et al.

Ophthalmic genetics 2025; (46(4)):347-353 doi:10.1080/13816810.2024.2432064.

Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations.

Lee BJH, Sun CZY, Ong CJT, et al.

Taiwan journal of ophthalmology 2024; (14(4)):486-496 doi:10.4103/tjo.TJO-D-24-00066.

Proposing Zebrafish as a Model for Stargardt Disease.

Lu Q, Reynolds AL

Advances in experimental medicine and biology 2025; (1468()):219-223 doi:10.1007/978-3-031-76550-6_36.

Exposure of A2E to blue light promotes ferroptosis in the retinal pigment epithelium.

Yang B, Yang K, Chen Y, et al.

Cellular & molecular biology letters 2025; (30(1)):22 doi:10.1186/s11658-025-00700-2.

Retinal thickness and visual acuity in early-onset Stargardt disease follow a non-linear progression curve: implications for clinical trials.

Whitmore SS, Critser DB, Stone EM, Han IC

Ophthalmic genetics 2025; (46(3)):249-255 doi:10.1080/13816810.2025.2470212.

Progression of Atrophy as a Function of ABCA4 Variants and Age of Onset in Stargardt Disease.

Pas JAAH, Li CHZ, Van den Broeck F, et al.

Investigative ophthalmology & visual science 2025; (66(4)):76 doi:10.1167/iovs.66.4.76.

Multimodal imaging in autosomal recessive Stargardt's disease.

Agarwal S, Nayak MA, Sood S

BMJ case reports 2025; (18(5)) doi:10.1136/bcr-2023-257508.

A shared journey and a call for action for persons living with inherited retinal diseases.

Ng QX, Chan HW, Koh GCH

Disability and health journal 2025; (18(4)):101921 doi:10.1016/j.dhjo.2025.101921.

Stargardt disease due to ABCA4 mutation in a young adult: Case report and current alternatives for optical and medical treatments.

Rey-Rodriguez DV, Gómez-Buitrago MI, Mateus Parra MJ, et al.

Archivos de la Sociedad Espanola de Oftalmologia 2025; (100(9)):571-575 doi:10.1016/j.oftale.2025.07.005.

Stargardt's Disease: Molecular Pathogenesis and Current Therapeutic Landscape.

Dayma K, Rajanala K, Upadhyay A

International journal of molecular sciences 2025; (26(14)) doi:10.3390/ijms26147006.

Depression and Anxiety in Patients With Irreversible Vision Loss: Meta-Analysis and Systematic Review.

Shah N, Tran E, Aly M, et al.

International journal of psychiatry in medicine 2025; 912174251382653 doi:10.1177/00912174251382653.

Mapping the Outcomes of Low-Vision Rehabilitation: A Scoping Review of Interventions, Challenges, and Research Gaps.

Ekemiri K, Adebo O, Ekemiri C, et al.

Vision (Basel, Switzerland) 2026; (10(1)) doi:10.3390/vision10010003.

More insights from Abca4-/- mouse models of recessive Stargardt disease.

Zhao J, Montenegro D, Cheng S, et al.

The Journal of biological chemistry 2026; (302(3)):111261 doi:10.1016/j.jbc.2026.111261.

Nutritional supplements: current evidence for retinitis pigmentosa and Stargardt disease.

Barthelemy N, Lee W, Gregori NZ, et al.

Current opinion in ophthalmology 2026; (37(3)):205-214 doi:10.1097/ICU.0000000000001213.