Stargardt Macular Degeneration (STGD)

Categories: Eye diseases

Aliases & Classifications for Stargardt Macular Degeneration

MalaCards integrated aliases for Stargardt Macular Degeneration:

Name: Stargardt Macular Degeneration 43
Macular Dystrophy with Flecks, Type 1 43
Juvenile Macular Degeneration 43
Stargardt Disease 1 70
Stargardt Disease 43
Stgd 43


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UMLS 70 C1855465

Summaries for Stargardt Macular Degeneration

MedlinePlus Genetics : 43 Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In most people with Stargardt macular degeneration, a fatty yellow pigment (lipofuscin) builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. In addition to central vision loss, people with Stargardt macular degeneration have problems with night vision that can make it difficult to navigate in low light. Some affected individuals also have impaired color vision. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood and worsen over time.

MalaCards based summary : Stargardt Macular Degeneration, also known as macular dystrophy with flecks, type 1, is related to stargardt disease 3 and bestrophinopathy, autosomal recessive. An important gene associated with Stargardt Macular Degeneration is ABCA4 (ATP Binding Cassette Subfamily A Member 4). The drugs acetic acid and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are nervous system and pigmentation

Related Diseases for Stargardt Macular Degeneration

Diseases related to Stargardt Macular Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 stargardt disease 3 32.3 ELOVL4 ABCA4
2 bestrophinopathy, autosomal recessive 31.1 PRPH2 ABCA4
3 retinitis pigmentosa 19 30.3 ELOVL4 ABCA4
4 stargardt disease 1 30.2 PRPH2 ABCA4
5 macular degeneration, age-related, 1 30.0 PRPH2 ELOVL4 ABCA4
6 retinal degeneration 30.0 PRPH2 ELOVL4 ABCA4
7 stargardt disease 30.0 PRPH2 ELOVL4 ABCA4
8 retinitis 29.9 PRPH2 ABCA4
9 cone-rod dystrophy 7 29.7 RIMS1 ELOVL4
10 retinal disease 29.7 RIMS1 PRPH2 ELOVL4 ABCA4
11 fundus dystrophy 29.6 RIMS1 PRPH2 ELOVL4 ABCA4
12 night blindness 29.5 PRPH2 ABCA4
13 occult macular dystrophy 29.5 PRPH2 ABCA4
14 hereditary retinal dystrophy 29.5 PRPH2 ELOVL4 ABCA4
15 choroideremia 29.5 PRPH2 ABCA4
16 retinitis pigmentosa 29.2 RIMS1 PRPH2 ELOVL4 ABCA4
17 gyrate atrophy of choroid and retina 29.2 RIMS1 PRPH2 ABCA4
18 cone-rod dystrophy 2 29.1 RIMS1 PRPH2 ELOVL4 ABCA4
19 congenital stationary night blindness 29.1 RIMS1 PRPH2 ABCA4
20 leber plus disease 29.1 RIMS1 PRPH2 ELOVL4 ABCA4
21 cone dystrophy 29.0 PRPH2 ABCA4
22 hypotrichosis, congenital, with juvenile macular dystrophy 11.5
23 stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic facial features 11.3
24 multifocal pattern dystrophy simulating fundus flavimaculatus 11.1
25 oguchi disease 11.0
26 stargardt disease 4 10.9
27 scotoma 10.5
28 inherited retinal disorder 10.5
29 microvascular complications of diabetes 5 10.4
30 cone-rod dystrophy 3 10.4
31 macular degeneration, age-related, 2 10.2
32 eye disease 10.2
33 myopia 10.1
34 yemenite deaf-blind hypopigmentation syndrome 10.1
35 autosomal recessive disease 10.1
36 neuroretinitis 10.1
37 macular holes 10.0
38 posttransplant acute limbic encephalitis 10.0
39 sotos syndrome 1 9.9
40 3-methylglutaconic aciduria, type iii 9.9
41 sjogren-larsson syndrome 9.9
42 bardet-biedl syndrome 9.9
43 hypotrichosis 9.9
44 alopecia areata 9.9
45 alopecia 9.9
46 gigantism 9.9
47 hypotonia 9.9
48 macular degeneration, age-related, 6 9.9 ELOVL4 ABCA4
49 macular degeneration, age-related, 4 9.9 ELOVL4 ABCA4
50 fibrosis of extraocular muscles, congenital, 1 9.9

Graphical network of the top 20 diseases related to Stargardt Macular Degeneration:

Diseases related to Stargardt Macular Degeneration

Symptoms & Phenotypes for Stargardt Macular Degeneration

MGI Mouse Phenotypes related to Stargardt Macular Degeneration:

# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.26 ABCA4 ELOVL4 PRPH2 RIMS1
2 pigmentation MP:0001186 8.8 ABCA4 ELOVL4 PRPH2

Drugs & Therapeutics for Stargardt Macular Degeneration

Drugs for Stargardt Macular Degeneration (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
acetic acid Approved Phase 2 64-19-7 176
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 11103-57-4 445354
3 Complement System Proteins Phase 2
4 Micronutrients Phase 2
5 Retinol palmitate Phase 2
6 Trace Elements Phase 2
Retinol acetate Phase 2 127-47-9 10245972
8 Nutrients Phase 2
9 Adjuvants, Immunologic Phase 2
10 retinol Phase 2
11 Vitamins Phase 2
12 Protective Agents Phase 2
13 Immunologic Factors Phase 2
14 Pharmaceutical Solutions Phase 1, Phase 2
15 Omega 3 Fatty Acid
16 Sunflower

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 A Phase 3 Multicenter, Randomized, Double-Masked Study Comparing the Efficacy and Safety of Emixustat Hydrochloride With Placebo for the Treatment of Macular Atrophy Secondary to Stargardt Disease Active, not recruiting NCT03772665 Phase 3 Emixustat;Placebo
2 A Phase 2a Multicenter, Randomized, Masked Study Evaluating the Pharmacodynamics of Emixustat Hydrochloride in Subjects With Macular Atrophy Secondary to Stargardt Disease Completed NCT03033108 Phase 2 Emixustat
3 A Phase 2a Study of the Safety, Pharmacokinetics and Pharmacodynamics of STG-001 in Subjects With Stargardt Disease (STGD1) Caused by Autosomal Recessive Mutation in ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene Recruiting NCT04489511 Phase 2 STG-001
4 A Phase 2b Randomized, Double-masked, Controlled Trial to Establish the Safety and Efficacy of Zimura™ (Complement C5 Inhibitor) Compared to Sham in Subjects With Autosomal Recessive Stargardt Disease Recruiting NCT03364153 Phase 2 Zimura
5 A Phase 2 Multicenter, Double-Masked, Randomized, Placebo-Controlled Study to Investigate the Long Term Safety, Tolerability, Pharmacokinetics and Effects of ALK-001 on the Progression of Stargardt Disease Recruiting NCT02402660 Phase 2 ALK-001;Placebo
6 An Open Label Study to Determine the Long Term Safety, Tolerability and Biological Activity of SAR422459 in Patients With Stargardt's Macular Degeneration Active, not recruiting NCT01736592 Phase 1, Phase 2 Long term follow up in all patients who received SAR422459 in previous study TDU13583
7 A Phase 2 Multicenter, Double-Masked, Randomized, Placebo-Controlled Study to Investigate the Long Term Safety, Tolerability, Pharmacokinetics and Effects of ALK-001 on the Progression of Stargardt Disease Enrolling by invitation NCT04239625 Phase 2 ALK-001
8 A Phase I/IIA Dose Escalation Safety Study of Subretinally Injected SAR422459, Administered to Patients With Stargardt's Macular Degeneration Terminated NCT01367444 Phase 1, Phase 2 SAR422459
9 A Phase 1, Open Label, Repeat Dose Study to Investigate the Safety and Pharmacokinetics of 4-week Daily Dosing of ALK-001 in Healthy Volunteers Completed NCT02230228 Phase 1 ALK-001 (No generic name)
10 The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4 (STGD4): A Prospective Longitudinal Observational Study of Stargardt Disease Type 4, a PROM1- Related Macular Dystrophy Completed NCT02410122
11 Natural History of Progression of Atrophy Secondary to Stargardt Disease: Retrospective, and Prospective Longitudinal Observational Study Incl. Ancillary SMART Study- Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease Completed NCT01977846
12 Prospective, Randomised, Double-blind Study to Assess the Therapeutic Potential of Omega-3 Fatty Acids Supplementation in Dry Macular Degeneration and Stargardt Disease (Macular Degeneration Omega-3 Study - MADEOS Completed NCT03297515
13 Clinical Interventions Against Stargardt Macular Dystrophy: DHA Supplementation in Patients With STGD3 Completed NCT00420602
14 Oxidative Stress In Stargardt Disease, Age Related Macular Degeneration and Diabetic Retinopathy Recruiting NCT02875704
15 Novel Quantification Methods for Fundus Flavoprotein Fluorescence and Lipofuscin Fluorescence to Detect Progression in Stargardt Disease Terminated NCT01676766

Search NIH Clinical Center for Stargardt Macular Degeneration

Genetic Tests for Stargardt Macular Degeneration

Anatomical Context for Stargardt Macular Degeneration

MalaCards organs/tissues related to Stargardt Macular Degeneration:

Eye, Retina

Publications for Stargardt Macular Degeneration

Articles related to Stargardt Macular Degeneration:

(show top 50) (show all 185)
# Title Authors PMID Year
Living with Stargardt disease: insights from patients and their parents. 61
33305649 2021
Formulation and efficacy of ECO/pRHO-ABCA4-SV40 nanoparticles for nonviral gene therapy of Stargardt disease in a mouse model. 61
33358976 2021
Outer nuclear layer relevance in visual function correlated to quantitative enface OCT parameters in Stargardt disease. 61
33508977 2021
Motion-Based Acuity Task: Full Visual Field Measurement of Shape and Motion Perception. 61
33505776 2021
Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration. 61
33375396 2020
Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration. 61
32845050 2020
Cell-Type-Specific Complement Profiling in the ABCA4-/- Mouse Model of Stargardt Disease. 61
33187113 2020
Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography. 61
33185728 2020
Saccadic movements assessment in eccentric fixation: A study in patients with Stargardt disease. 61
33008267 2020
Evidence of complement dysregulation in outer retina of Stargardt disease donor eyes. 61
33214125 2020
Deep Learning-Based Classification of Inherited Retinal Diseases Using Fundus Autofluorescence. 61
33066661 2020
Multimodal evaluation of central and peripheral alterations in Stargardt disease: a pilot study. 61
31748334 2020
Automated classification of normal and Stargardt disease optical coherence tomography images using deep learning. 61
31981283 2020
Novel variants associated with Stargardt disease in Chinese patients. 61
32534057 2020
Retinal Glial and Choroidal Vascular Pathology in Donors Clinically Diagnosed With Stargardt Disease. 61
32692840 2020
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. 61
32307445 2020
Systemic administration of the di-apocarotenoid norbixin (BIO201) is neuroprotective, preserves photoreceptor function and inhibits A2E and lipofuscin accumulation in animal models of age-related macular degeneration and Stargardt disease. 61
32255762 2020
Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy. 61
32298433 2020
Application of targeted exome and whole-exome sequencing for Chinese families with Stargardt disease. 61
31674661 2020
Non-viral Gene Therapy for Stargardt Disease with ECO/pRHO-ABCA4 Self-Assembled Nanoparticles. 61
31611143 2020
Fluorescence Lifetime Patterns of Retinal Pigment Epithelium Atrophy in Patients with Stargardt Disease and Age-Related Macular Degeneration. 61
31743906 2020
Simultaneous expression of two pathogenic genes in four Chinese patients affected with inherited retinal dystrophy. 61
32090030 2020
[Morphological and functional indicators of retinal pigment epithelium and photoreceptor apparatus in inherited retinal diseases]. 61
32880138 2020
Exome sequencing analysis identifies novel homozygous mutation in ABCA4 in a Chinese family with Stargardt disease. 61
32399422 2020
Perceptual learning in patients with Stargardt disease. 61
31836104 2019
OCTA-Based Identification of Different Vascular Patterns in Stargardt Disease. 61
31832280 2019
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland. 61
31766579 2019
Correlation between Choriocapillaris Density and Retinal Sensitivity in Stargardt Disease. 61
31510083 2019
Choroidal Patterns in Stargardt Disease: Correlations with Visual Acuity and Disease Progression. 61
31491905 2019
Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography. 61
30771335 2019
An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease. 61
30889179 2019
Impact of segmentation density on spectral domain optical coherence tomography assessment in Stargardt disease. 61
30613916 2019
Correspondence between retinotopic cortical mapping and conventional functional and morphological assessment of retinal disease. 61
29699983 2019
The CFTR Corrector, VX-809 (Lumacaftor), Rescues ABCA4 Trafficking Mutants: a Potential Treatment for Stargardt Disease. 61
31403270 2019
Characterisation of vascular changes in different stages of Stargardt disease using double swept-source optical coherence tomography angiography. 61
31799409 2019
Macular hyperpigmentary changes in ABCA4-Stargardt disease. 61
30984415 2019
Hyperreflective foci in Stargardt disease: 1-year follow-up. 61
30374616 2019
Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing. 61
29975949 2019
Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans. 61
31814693 2019
Contrast sensitivity deficits in patients with mutation-proven inherited retinal degenerations. 61
30526558 2018
CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease. 61
30285522 2018
Expression of ABCA4 in the retinal pigment epithelium and its implications for Stargardt macular degeneration. 61
30397118 2018
ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing. 61
29461686 2018
Comparative analysis of autofluorescence and OCT angiography in Stargardt disease. 61
29074493 2018
Treatments for dry age-related macular degeneration and Stargardt disease: a systematic review. 61
29846169 2018
28198784 2018
Quantifying the Rate of Ellipsoid Zone Loss in Stargardt Disease. 61
29126757 2018
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? 61
29417145 2018
Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration. 61
29145636 2018
Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations. 61
29736279 2018

Variations for Stargardt Macular Degeneration

Expression for Stargardt Macular Degeneration

Search GEO for disease gene expression data for Stargardt Macular Degeneration.

Pathways for Stargardt Macular Degeneration

GO Terms for Stargardt Macular Degeneration

Cellular components related to Stargardt Macular Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.62 PRPH2 ABCA4

Biological processes related to Stargardt Macular Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.13 RIMS1 PRPH2 ABCA4
2 visual perception GO:0007601 8.8 RIMS1 PRPH2 ABCA4

Sources for Stargardt Macular Degeneration

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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