MCID: STR046
MIFTS: 32

Stargardt Macular Degeneration

Categories: Eye diseases

Aliases & Classifications for Stargardt Macular Degeneration

MalaCards integrated aliases for Stargardt Macular Degeneration:

Name: Stargardt Macular Degeneration 26
Macular Dystrophy with Flecks, Type 1 26
Juvenile Macular Degeneration 26
Stargardt Disease 1 74
Stargardt Disease 26
Stgd 26

Classifications:



External Ids:

UMLS 74 C1855465

Summaries for Stargardt Macular Degeneration

Genetics Home Reference : 26 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 1 and retinitis pigmentosa 19. An important gene associated with Stargardt Macular Degeneration is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and the visual cycle I (vertebrates). 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 54)
# Related Disease Score Top Affiliating Genes
1 stargardt disease 1 31.3 ABCA4 ELOVL4 RHO
2 retinitis pigmentosa 19 30.2 ABCA4 RHO
3 yemenite deaf-blind hypopigmentation syndrome 30.1 ABCA4 RHO
4 retinitis 29.9 PRPH2 RHO
5 macular degeneration, age-related, 1 29.8 ABCA4 ELOVL4 PRPH2 RHO
6 retinal degeneration 29.7 ABCA4 PRPH2 RHO
7 congenital stationary night blindness 29.5 ABCA4 RHO
8 stargardt disease 29.4 ABCA4 ELOVL4 PRPH2 RHO
9 cone-rod dystrophy 2 29.4 ABCA4 PRPH2 RHO RIMS1
10 retinitis pigmentosa 28.5 ABCA4 ELOVL4 PRPH2 RHO RIMS1
11 leber congenital amaurosis 28.3 ABCA4 ELOVL4 PRPH2 RHO RIMS1
12 stargardt disease 3 12.5
13 stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features 12.4
14 juvenile macular degeneration and hypotrichosis 12.4
15 hypotrichosis, congenital, with juvenile macular dystrophy 11.3
16 stargardt disease 4 11.2
17 multifocal pattern dystrophy simulating fundus flavimaculatus 11.1
18 bestrophinopathy 11.1
19 oguchi disease 11.1
20 degos 'en cocarde' erythrokeratoderma 10.2
21 macular degeneration, age-related, 2 10.2
22 cone-rod dystrophy 3 10.2
23 macular holes 10.1
24 choroideremia 10.1
25 leber congenital amaurosis 4 10.1
26 red-green color blindness 10.0 ABCA4 RHO
27 retinitis pigmentosa 25 9.9 ELOVL4 RIMS1
28 retinoblastoma 9.9
29 occult macular dystrophy 9.9
30 night blindness 9.9
31 scotoma 9.9
32 depression 9.9
33 sotos syndrome 1 9.9
34 3-methylglutaconic aciduria, type iii 9.9
35 bardet-biedl syndrome 2 9.9
36 bardet-biedl syndrome 10 9.9
37 bardet-biedl syndrome 11 9.9
38 bardet-biedl syndrome 12 9.9
39 suppression amblyopia 9.9
40 amblyopia 9.9
41 bardet-biedl syndrome 9.9
42 hypotrichosis 9.9
43 gigantism 9.9
44 retinitis pigmentosa 1 9.8 PRPH2 RHO
45 choroidal dystrophy, central areolar, 1 9.8 PRPH2 RIMS1
46 retinitis pigmentosa 7 9.8 PRPH2 RHO
47 hereditary choroidal atrophy 9.8 PRPH2 RIMS1
48 partial central choroid dystrophy 9.7 PRPH2 RIMS1
49 cone-rod dystrophy 7 9.7 ABCA4 ELOVL4 RIMS1
50 prolonged electroretinal response suppression 9.7 ABCA4 PRPH2

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.55 ABCA4 ELOVL4 PRPH2 RHO RIMS1
2 pigmentation MP:0001186 9.26 ABCA4 ELOVL4 PRPH2 RHO
3 vision/eye MP:0005391 8.92 ABCA4 ELOVL4 PRPH2 RHO

Drugs & Therapeutics for Stargardt Macular Degeneration

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
acetic acid Approved Phase 2,Phase 1 64-19-7 176
2
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2,Phase 1 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
3 Vitamins Phase 2,Phase 1
4 retinol Phase 2,Phase 1
5 Retinol palmitate Phase 2,Phase 1
6
Retinol acetate Phase 2,Phase 1 127-47-9 10245972
7 Pharmaceutical Solutions Phase 1, Phase 2,Phase 2
8 Complement System Proteins Phase 2
9 Immunologic Factors Phase 2
10 Complement C5 Phase 2
11
Fomepizole Approved, Vet_approved Phase 1 7554-65-6 3406
12 Protective Agents Phase 1
13 Antidotes Phase 1
14 Omega 3 Fatty Acid Phase 1,Not Applicable
15 Sunflower Not Applicable

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Emixustat in Stargardt Disease Recruiting NCT03772665 Phase 3 Emixustat;Placebo
2 Pharmacodynamic Study of Emixustat Hydrochloride in Subjects With Macular Atrophy Secondary to Stargardt Disease Completed NCT03033108 Phase 2 Emixustat
3 Sub-retinal Transplantation of hESC Derived RPE(MA09-hRPE)Cells in Patients With Stargardt's Macular Dystrophy Completed NCT01345006 Phase 1, Phase 2
4 Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (hESC-RPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Completed NCT01469832 Phase 1, Phase 2
5 Phase I/II Study of SAR422459 in Patients With Stargardt's Macular Degeneration Recruiting NCT01367444 Phase 1, Phase 2 SAR422459
6 Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease Recruiting NCT02402660 Phase 2 ALK-001;Placebo
7 Stem Cell Therapy for Outer Retinal Degenerations Recruiting NCT02903576 Phase 1, Phase 2
8 Zimura Compared to Sham in Patients With Autosomal Recessive Stargardt Disease (STGD1) Active, not recruiting NCT03364153 Phase 2 Zimura
9 Saffron Supplementation in Stargardt's Disease Active, not recruiting NCT01278277 Phase 1, Phase 2
10 Phase I/II Follow-up Study of SAR422459 in Patients With Stargardt's Macular Degeneration Enrolling by invitation NCT01736592 Phase 1, Phase 2 SAR422459 administered in previous study TDU13583
11 Phase 1 Safety Study of ALK-001 in Healthy Volunteers Completed NCT02230228 Phase 1 ALK-001 (No generic name)
12 Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular Dystrophy Completed NCT00346853 Phase 1 4-Methylpyrazole
13 Effect of DHA Supplements on Macular Function in Patients With Stargardt Macular Dystrophy and Stargardt-like Macular Dystrophy Completed NCT00060749 Phase 1 Docosahexaenoic Acid (DHA) Dietary Supplement
14 Stem Cells Therapy in Degenerative Diseases of the Retina Enrolling by invitation NCT03772938 Phase 1
15 A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective Studies Completed NCT01977846
16 The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular Dystrophy Completed NCT02410122
17 DHA Supplementation in Patients With STGD3 Completed NCT00420602 Not Applicable
18 Microcurrent Stimulation to Treat Macular Degeneration Completed NCT01790958
19 Oxidative Stress In Stargardt Disease, Age Related Macular Degeneration and Diabetic Retinopathy Recruiting NCT02875704
20 Therapeutic Potential of Omega-3 Fatty Acids Supplementation in Dry Macular Degeneration and Stargardt Disease Recruiting NCT03297515 Not Applicable
21 Rod and Cone Mediated Function in Retinal Disease Recruiting NCT02617966
22 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
23 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
24 Long Term Follow Up of Sub-retinal Transplantation of hESC Derived RPE Cells in Stargardt Macular Dystrophy Patients Active, not recruiting NCT02445612
25 A Follow up Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (hESC-RPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Active, not recruiting NCT02941991
26 Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867 Not Applicable
27 Objective Assessment of Macular Function at Retinal and Cortical Levels Not yet recruiting NCT03517241
28 Novel Quantification Methods for 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:

42
Eye, Retina

Publications for Stargardt Macular Degeneration

Articles related to Stargardt Macular Degeneration:

# Title Authors Year
1
Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration. ( 29145636 )
2018
2
Expression of ABCA4 in the retinal pigment epithelium and its implications for Stargardt macular degeneration. ( 30397118 )
2018
3
Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration. ( 22948568 )
2012
4
Complement system dysregulation and inflammation in the retinal pigment epithelium of a mouse model for Stargardt macular degeneration. ( 21464132 )
2011
5
Binding of retinoids to ABCA4, the photoreceptor ABC transporter associated with Stargardt macular degeneration. ( 20552428 )
2010
6
Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration. ( 20633576 )
2010
7
The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration. ( 19230850 )
2009
8
A new syndrome with Stargardt macular degeneration, abnormalities of the corpus callosum, mental retardation, and dysmorphic features: a case report of two siblings. ( 19451813 )
2009
9
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. ( 11527935 )
2001

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

Pathways related to Stargardt Macular Degeneration according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.29 ABCA4 RHO
2
Show member pathways
10.36 ABCA4 RHO

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 disc membrane GO:0097381 8.96 ABCA4 RHO
2 photoreceptor outer segment GO:0001750 8.8 ABCA4 PRPH2 RHO

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 9.54 ABCA4 RHO RIMS1
2 retina development in camera-type eye GO:0060041 9.32 PRPH2 RHO
3 retinoid metabolic process GO:0001523 9.26 ABCA4 RHO
4 photoreceptor cell maintenance GO:0045494 9.16 ABCA4 RHO
5 phototransduction, visible light GO:0007603 8.96 ABCA4 RHO
6 visual perception GO:0007601 8.92 ABCA4 PRPH2 RHO RIMS1

Molecular functions related to Stargardt Macular Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled photoreceptor activity GO:0008020 8.62 ELOVL4 RHO

Sources for Stargardt Macular Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....