Stargardt Disease

A juvenile-onset macular dystrophy characterized by progressive loss of VISUAL ACUITY with normal acuity in peripheral VISUAL FIELDS. Other associated clinical features may include LIPOFUSCIN fundus autofluorescence, atrophy of the RETINAL PIGMENT EPITHELIUM, loss of color vision, PHOTOPHOBIA and PARACENTRAL SCOTOMA. Germline mutations in the ABCA4 gene have been identified in recessive and dominant diseases.

Also Known As:

Networked: 398 relevant articles (16 outcomes, 44 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Macular Degeneration (Age-Related Maculopathy)
2.	Retinitis Pigmentosa (Pigmentary Retinopathy)
3.	Atrophy
4.	Retinal Dystrophies
5.	Blindness (Hysterical Blindness)

Experts

1.	Molday, Robert S: 15 articles (01/2022 - 12/2007)
2.	Allikmets, Rando: 15 articles (01/2018 - 03/2004)
3.	Sparrow, Janet R: 13 articles (01/2019 - 12/2005)
4.	Palczewski, Krzysztof: 12 articles (10/2021 - 08/2011)
5.	Maeda, Akiko: 12 articles (01/2020 - 02/2012)
6.	Scholl, Hendrik P N: 9 articles (01/2022 - 07/2007)
7.	Zernant, Jana: 9 articles (05/2016 - 03/2004)
8.	Fishman, Gerald A: 9 articles (01/2016 - 07/2004)
9.	Hoyng, Carel B: 8 articles (01/2021 - 11/2007)
10.	Stone, Edwin M: 8 articles (10/2020 - 03/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Stargardt Disease:

1.	Retinaldehyde (Retinal)IBA 03/24/2023 - "This study aimed to describe four cases with retinal appearance of Stargardt disease phenotypes and unexpected molecular findings. " 01/01/2023 - "The availability of these lines will allow us to generate patient-derived photoreceptor precursor cells and retinal organoids to further study ABCA4 and thereby, Stargardt disease in relevant model systems carrying the patient's genetic background." 10/01/2021 - "To report the yearly rate of change in macular function in patients with Stargardt disease type 1 (STGD1) over 24 months and to establish a new volumetric visual function index for use in clinical trials investigating the efficacy on retinal sensitivity. " 01/01/2021 - "This study sought to perform automated segmentation of 11 retinal layers and Stargardt-associated features on spectral-domain optical coherence tomography (SD-OCT) images and to analyze differences between normal eyes and eyes diagnosed with Stargardt disease. " 01/01/2020 - "The present study investigated retinal glia and choroidal vessels in flatmounts and sections from individuals with clinically diagnosed Stargardt disease (STGD). "
2.	Proteins (Proteins, Gene)FDA Link 12/01/2015 - "Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease." 11/01/2018 - "The experimental proof that ABCA4 mutations in STGD patients affect protein function is crucial for their inclusion to future clinical trials; therefore, functional testing of all ABCA4 intronic variants associated with Stargardt disease by minigene technology is desirable." 01/01/2022 - "In addition, 13 novel variants were found in 119 sporadic RP patients in 7 Stargardt disease-related genes, and 8 novel missense variants were conserved across different species and predicted to be damaging to the protein. " 05/01/2017 - "The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level." 10/01/2021 - "In Abca-/- Stargardt macular degeneration mice, mitochondrial dysfunction induces liquid-liquid phase separation of p62/SQSTM1, a multifunctional protein that regulates autophagy. "
3.	Vitamin A (Retinol)FDA LinkGeneric 06/01/2022 - "Avoidance of high-dose vitamin A supplementation should be discussed with Stargardt disease patients." 06/01/2022 - "Though the evidence is limited, there is concern that high-dose vitamin A supplementation could lead to progression of Stargardt disease. " 06/01/2022 - "To report a case of late-onset Stargardt disease, discuss the differential diagnosis, and review the role of vitamin A supplementation in Stargardt disease. " 10/01/2018 - "High intake of vitamin A is suspected to be a risk factor for the progression of Stargardt disease (STGD1) and many health authorities recommend Stargardt patients not to use oral vitamin A supplements outside that provided naturally in the food. " 10/01/2018 - "Vitamin A in Stargardt disease-an evidence-based update."
4.	RetinoidsIBA 10/20/2023 - "The dysregulation of retinoid metabolism has been linked to prevalent ocular diseases including age-related macular degeneration and Stargardt disease. " 01/01/2023 - "Loss-of-function mutations in ABCA4 are known to cause Stargardt disease (STGD1), an inherited retinal degenerative disease associated with the accumulation of fluorescent di-retinoids and severe loss in vision. " 01/01/2018 - "A non-retinoid antagonist of retinol-binding protein 4 rescues phenotype in a model of Stargardt disease without inhibiting the visual cycle." 01/01/2010 - "Binding of retinoids to ABCA4, the photoreceptor ABC transporter associated with Stargardt macular degeneration." 12/01/2007 - "Using an in vivo radiolabeling technique, we investigated the movement of retinoid into the retinal pigment epithelium (RPE) of the abcr-/- mouse, which lacks the photoreceptor ABCR protein and is a model for Stargardt disease. "
5.	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 01/01/2019 - "Efficacy of anti-VEGF in the treatment of choroidal neovascular membrane secondary to pattern dystrophy simulating fundus flavimaculatus." 01/01/2022 - "Long-Term Efficacy of Intravitreal Anti-VEGF Therapy for Choroidal Neovascularization in a Case of Fundus Flavimaculatus (FFM)." 04/01/2023 - "Abbreviations: AMD = age-related macular degeneration, anti-VEGF = anti-vascular epithelial growth factor, AOFVD = adult-onset foveomacular vitelliform dystrophy, BCVA = best corrected visual acuity, CNV = choroidal neovascularization, FAF = fundus autofluorescence, FFA = fundus fluorescein angiography, GA = geographic atrophy, LE = left eye, MIDD = maternally inherited diabetes and deafness, OCT = optical coherence tomography, OCTA = optical coherence tomography angiography, OU = oculus uterque, both eyes, PD = pattern dystrophy, PDSFF = pattern dystrophy simulating fundus flavimaculatus, PDT = photodynamic therapy, PRPH2 = peripherine-2, RE = right eye, RPE = retinal pigment epithelium, VA = visual acuity."
6.	ATP-Binding Cassette Transporters (ABC Transporters)IBA 06/26/2012 - "These studies provide the first direct evidence for a mammalian ABC transporter that functions as an importer and provide insight into mechanisms underlying substrate transport and the molecular basis of Stargardt disease." 12/01/2001 - "Mechanistic studies of ABCR, the ABC transporter in photoreceptor outer segments responsible for autosomal recessive Stargardt disease." 01/01/2020 - "Adeno-associated viral (AAV) gene therapy treatment for Stargardt disease currently requires a dual vector approach owing to the size of the ATP-binding cassette transporter family member gene (ABCA4). " 01/01/2020 - "Deletion-insertion (delins) variants in the retina-specific ATP-binding cassette transporter gene, subfamily A, member 4 (ABCA4) accounts for <1% in Stargardt disease. " 01/01/2017 - "Stargardt disease (STGD1) is an autosomal recessive retinopathy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene. "
7.	Biomarkers (Surrogate Marker)IBA 01/01/2020 - "Sensitive, reproducible visual function biomarkers are necessary to evaluate the efficacy of emerging treatments for Stargardt disease type 1 in clinical trials. " 01/01/2017 - "To compare different metrics and acquisition modes of fixation stability as a new visual function biomarker in a large cohort of patients with ABCA4-related Stargardt disease from the multicenter prospective ProgStar study. " 10/01/2016 - "Identification of sensitive biomarkers is essential to determine potential effects of emerging therapeutic trials for Stargardt disease. " 12/18/2022 - "Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease." 12/01/2022 - "The paper concludes with a perspective about using artificial intelligence to potentially find early risk factors or biomarkers that can aid in the prediction of Stargardt disease progression."
8.	LipidsIBA 03/01/2017 - "Biochemical studies have implicated mutation in gene encoding ABCA4, a lipid transporter in pathogenesis of Stargardt disease. " 10/01/2010 - "Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration." 04/01/2016 - "Recent studies during the last few recent years have uncovered a plethora of new spatially defined molecular information on several vision-threatening diseases, including age-related macular degeneration, Stargardt disease, glaucoma, cataract, as well as lipid disorders. " 12/11/2017 - "Bis(monoacylglycero)phosphate lipids in the retinal pigment epithelium implicate lysosomal/endosomal dysfunction in a model of Stargardt disease and human retinas." 07/01/2009 - "The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration."
9.	Oxidoreductases (Dehydrogenase)IBA 04/01/2014 - "Previous studies have focused on the role of the ATP-binding cassette transporter ABCA4 associated with Stargardt macular degeneration and retinol dehydrogenases (RDH) in the clearance of all-trans-retinal from photoreceptors following photoexcitation. " 01/01/2017 - "These studies provided the essential proof-of-concept needed to advance monogenic gene therapies into clinic development; these therapies include treatments for: Leber's congenital amaurosis type 2, caused by mutations to RPE65, retinoid isomerohydrolase; choroideremia, caused by mutations to REP1, Rab escort protein 1; autosomal recessive Stargardt disease, caused by mutations to ABCA4, the photoreceptor-specific ATP-binding transporter; Usher 1B disease caused by mutations to MYO7A, myosin heavy chain 7; X-linked juvenile retinoschisis caused by mutations to RS1, retinoschisin; autosomal recessive retinitis pigmentosa caused by mutations to MERTK, the proto-oncogene tyrosine-protein kinase MER; Leber's hereditary optic neuropathy caused by mutations to ND4, mitochondrial nicotinamide adenine dinucleotide ubiquinone oxidoreductase (complex I) subunit 4 and achromatopsia, caused by mutations to CNGA3, cyclic nucleotide-gated channel alpha 3 and CNGB3, cyclic nucleotide-gated channel beta 3. This review includes a tabulated summary of treatments for these monogenic retinal dystrophies that have entered into clinical development, as well as a brief summary of the preclinical data that supported their advancement into clinical development."
10.	Retinal Pigments (Pigments, Visual)IBA 12/01/1980 - "Retinal pigment epithelial abnormalities in fundus flavimaculatus: a light and electron microscopic study." 01/01/2023 - "To assess the safety of injecting human embryonic stem cell retinal pigment epithelial cell dose to treat Stargardt disease. " 01/01/2022 - "Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients." 09/01/2021 - "A phase I clinical trial of human embryonic stem cell-derived retinal pigment epithelial cells for early-stage Stargardt macular degeneration: 5-years' follow-up." 01/01/1999 - "Focal retinal pigment epithelial dysplasia associated with fundus flavimaculatus."

Therapies and Procedures

1.	Therapeutics 07/01/2023 - "Although stem cell therapy holds promise in improving visual function in patients with Stargardt disease, further investigation is needed to determine the long-term benefits, safety, and efficacy in determining the best delivery method and selecting the most appropriate stem cell type." 07/01/2023 - "This article aimed to review current literature on the safety and efficacy of stem cell therapy in Stargardt disease. " 06/01/2017 - "This study aims to systematically review and summarize evidence concerning the most up-to-date developments in pharmacologic, gene, and stem-cell therapies as novel therapeutic strategies to improve vision for patients with Stargardt disease." 02/01/2016 - "The wide variety of therapies that are registered as clinical trials for Stargardt disease significantly raises the possibility that effective treatments will be available in the near future for this currently incurable condition and that molecular genetic testing should be increasingly considered. " 07/01/2023 - "Stem Cell Therapy in Stargardt Disease: A Systematic Review."
2.	Transplantation 01/01/2023 - "TRANSPLANTATION OF SUBRETINAL STEM CELL-DERIVED RETINAL PIGMENT EPITHELIUM FOR STARGARDT DISEASE: A Phase I Clinical Trial." 07/01/2022 - "More recent work has involved transplantation of autologous and allogeneic stem cell-derived RPE for patients with AMD and those with Stargardt disease. " 01/01/2021 - "Long-term safety and tolerability of subretinal transplantation of embryonic stem cell-derived retinal pigment epithelium in Asian Stargardt disease patients." 01/01/2013 - "There is an expectation that stem cell transplantation will soon be commonplace in the human clinic, especially with the beginnings of clinical trials of embryonic stem cell transplantation for bone repair, spinal cord injury, macular degeneration, Stargardt's disease, and Batten's disease. " 08/01/2021 - "To date, several phase I/II clinical trials in patients with age-related macular degeneration (AMD) and Stargardt disease (STGD1) have demonstrated the safety and feasibility of PSC-derived RPE transplantation. "
3.	Aftercare (After-Treatment) 01/01/2022 - "The aim of this study was to evaluate the efficacy of photo-biomodulation in patients with Stargardt disease 1 year after treatment, considering as primary outcomes improvements in best corrected visual acuity (BCVA), microperimetry, and pattern electroretinography (PERG) amplitude. " 10/12/2012 - "We present a patient with Stargardt disease treated with an intravitreal injection of dobesilate, showing an improvement of visual acuity 4 weeks after treatment." 01/01/2008 - "Our case provides further evidence that repeated PDT may be used for the treatment of choroidal neovascular membrane complicating Stargardt disease without deleterious effects up to 4 years after treatment."
4.	Psychology Biofeedback (Biofeedback) 09/01/2013 - "To evaluate the efficacy of biofeedback (BF) microperimetric rehabilitation in patients with Stargardt disease (STGD). " 01/01/2016 - "Fixation Improvement through Biofeedback Rehabilitation in Stargardt Disease." 09/01/2013 - "Biofeedback rehabilitation of eccentric fixation in patients with Stargardt disease."
5.	Stem Cell Transplantation 01/01/2013 - "There is an expectation that stem cell transplantation will soon be commonplace in the human clinic, especially with the beginnings of clinical trials of embryonic stem cell transplantation for bone repair, spinal cord injury, macular degeneration, Stargardt's disease, and Batten's disease. "