Page last updated: 2024-09-27

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.

Synonyms(1)

Synonym
Stargardt Disease

Research Excerpts

Overview

ExcerptReference
"Stargardt disease is one of the most common forms of inherited retinal disease and leads to permanent vision loss."( Arunachalam, S; Attia, MS; Charng, J; Chen, FK; De Roach, JN; Frost, S; Lamey, TM; Mackey, DA; McLaren, TL; Mehdizadeh, M; Thompson, JA; Xiao, D, 2020)
"Stargardt disease is a rare, inherited, degenerative disease of the retina that is the most common type of hereditary macular dystrophy."( Birch, DG; Gregory, JK; Koester, JM; Kubota, R, 2022)
"Stargardt disease is the most common form of early onset macular degeneration."( Cebotaru, L; Grover, R; Guggino, WB; Handa, JT; Lopes Pacheco, M; Rapino, D; Sabirzhanova, I, 2015)
"Stargardt disease is a common inherited macular degeneration characterised by a significant loss in the central vision during the first or second decade of the life."( Angulo, J; Cuevas, P; Giménez-Gallego, G; Outeiriño, LA, 2012)

Treatment

ExcerptReference
"Presently, there are no standard treatments for Stargardt disease."( Adelman, RA; Liu, J; Lu, LJ, 2017)

Research

Studies (47)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's32 (68.09)28.8240
2020's15 (31.91)9.53
DrugIndicatedRelationship StrengthStudiesTrials
adenine0low10
cytosine0low10
doxazosin0low10
hydroxychloroquine0low10
pyrroles0low20
piperidine0low10
alpha-aminopyridine0low20
d-alpha tocopherol0low10
zinc phosphate0low30
deuterium0low30
trolamine salicylate0low20
calcium dobesilate0low10
glycerophosphoethanolamine0low10
soraprazan0low10
leupeptins0low10
retinylamine0low10
retinol0low90
eicosapentaenoic acid0low10
benzyloxycarbonylleucyl-leucyl-leucine aldehyde0low10
retinaldehyde0low70
nadp0low10
11-cis-retinal0low40
zeaxanthin0low10
lutein0low10
fenretinide0low10
guanabenz0low10
bafilomycin a0low10
tubacin0low20
retinal dimer0low10
indocyanine green0low20
phosphatidylcholines0low10
lumacaftor0low20
9-(tetrahydro-2-furyl)-adenine0low10
glycolipids0low10
piperidines0low20
acy-12150low10
4-((1-butyl-3-phenylureido)methyl)-n-hydroxybenzamide0low10
eye0low20

Protein Targets (325)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, Retinaldehyde-binding protein 10011
Chain A, Retinaldehyde-binding protein 10011
Histone deacetylase 30505
Cytochrome P450 2D60101
Cytochrome P450 2C190101
Histone deacetylase 40505
Histone deacetylase 10516
Histone deacetylase 70404
Histone deacetylase 20606
Polyamine deacetylase HDAC100404
Histone deacetylase 11 0404
Histone deacetylase 80505
Histone deacetylase 60617
Histone deacetylase 90404
Histone deacetylase 50404
PPM1D protein3003
EWS/FLI fusion protein6006
Histone deacetylase 60101
interferon gamma precursor0002
Interferon beta5005
Leukotriene A-4 hydrolase0202
Proteasome subunit beta type-50303
NAD-dependent protein deacetylase sirtuin-20101
NAD-dependent protein deacetylase sirtuin-10101
Nuclear receptor corepressor 20202
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE3003
Chain A, MTA/SAH nucleosidase0101
Chain A, Ribosome-inactivating protein alpha-trichosanthin0011
Chain A, Ricin A chain0011
Chain A, Ribosome-inactivating protein 30011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
RAR-related orphan receptor gamma6006
TDP1 protein8008
AR protein100010
nuclear receptor subfamily 1, group I, member 34004
cytochrome P450 family 3 subfamily A polypeptide 44004
glucocorticoid receptor [Homo sapiens]6006
estrogen-related nuclear receptor alpha6006
pregnane X nuclear receptor4004
estrogen nuclear receptor alpha100010
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a6006
nuclear factor erythroid 2-related factor 2 isoform 22002
heat shock protein beta-15005
importin subunit beta-1 isoform 13003
snurportin-13003
tumor susceptibility gene 101 protein1001
GTP-binding nuclear protein Ran isoform 12002
lamin isoform A-delta104004
Voltage-dependent calcium channel gamma-2 subunit4004
Bile salt export pump0202
Cyclin-dependent kinase 10101
Heat shock protein HSP 90-beta0101
Glutamate receptor 24004
Xanthine dehydrogenase/oxidase0101
TAR DNA-binding protein 431001
Protein mono-ADP-ribosyltransferase PARP150101
Leucine-rich repeat serine/threonine-protein kinase 20202
ATPase family AAA domain-containing protein 54004
Ataxin-25005
retinoic acid nuclear receptor alpha variant 16006
thyroid stimulating hormone receptor4004
thyroid hormone receptor beta isoform 28008
Heat shock protein HSP 90-alpha0011
Botulinum neurotoxin type A 0101
Neutrophil cytosol factor 10101
Nitric oxide synthase, endothelial0101
Nitric oxide synthase, brain0101
Nitric oxide synthase, brain 0101
Nitric oxide synthase, inducible0101
Kappa-type opioid receptor0011
Phosphatidylinositol 4-kinase alpha0101
Mu-type opioid receptor0011
Tyrosine-protein kinase 0011
Phosphatidylinositol 4-kinase type 2-beta0101
Phosphatidylinositol 4-kinase type 2-alpha0101
Phosphatidylinositol 4-kinase beta0101
Proteasome subunit beta type-110101
Fumarate hydratase3003
aldehyde dehydrogenase 1 family, member A15005
polyprotein3003
euchromatic histone-lysine N-methyltransferase 24004
vitamin D3 receptor isoform VDRA3003
survival motor neuron protein isoform d3003
Calpain-90101
Proteasome subunit alpha type-70101
Cathepsin B0101
Replicase polyprotein 1ab0213
Replicase polyprotein 1ab0213
Aromatase0202
Indoleamine 2,3-dioxygenase 10101
Calpain-2 catalytic subunit0101
Proteasome subunit beta type-10202
Proteasome subunit alpha type-10101
Proteasome subunit alpha type-20101
Proteasome subunit alpha type-30101
Proteasome subunit alpha type-40101
NF-kappa-B inhibitor alpha0011
Proteasome subunit beta type-80101
Proteasome subunit beta type-90101
Proteasome subunit alpha type-50101
Proteasome subunit beta type-40101
Proteasome subunit beta type-60101
Proteasome subunit beta type-100101
Cathepsin K0101
Proteasome subunit beta type-30101
Proteasome subunit beta type-20202
Proteasome subunit alpha type-60101
Proteasome subunit alpha-type 80101
Proteasome subunit beta type-70101
Gamma-secretase subunit PEN-20101
GLI family zinc finger 35005
IDH13003
geminin4004
Deoxycytidine kinase0001
USP1 protein, partial5005
Microtubule-associated protein tau3003
activating transcription factor 63003
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a3003
Rap guanine nucleotide exchange factor 32002
Cellular tumor antigen p536006
Glutathione S-transferase P0101
Alpha-tocopherol transfer protein0011
thioredoxin reductase3003
ATAD5 protein, partial2002
D(1A) dopamine receptor3003
chromobox protein homolog 12002
serine/threonine-protein kinase mTOR isoform 13003
Alpha-1A adrenergic receptor0101
5-hydroxytryptamine receptor 40404
Interstitial collagenase0101
Beta-2 adrenergic receptor0202
Alpha-2A adrenergic receptor0404
Angiotensin-converting enzyme0202
Alpha-1B adrenergic receptor0202
Alpha-2B adrenergic receptor0404
Alpha-1A adrenergic receptor0202
Alpha-2C adrenergic receptor0404
Alpha-2B adrenergic receptor0101
Alpha-2C adrenergic receptor0101
Alpha-2A adrenergic receptor0101
Alpha-1D adrenergic receptor0202
Alpha-1D adrenergic receptor0607
5-hydroxytryptamine receptor 2C0404
Sodium-dependent serotonin transporter0202
Alpha-1A adrenergic receptor0102
Alpha-1B adrenergic receptor0102
Alpha-synuclein1203
5-hydroxytryptamine receptor 2B0404
Alpha-1A adrenergic receptor0314
D(1A) dopamine receptor2002
Sodium-dependent dopamine transporter 0202
Potassium voltage-gated channel subfamily H member 20303
Nuclear receptor subfamily 3 group C member 3 0202
Chain A, Protein (peroxisome Proliferator Activated Receptor (ppar-delta))0101
phosphopantetheinyl transferase4004
GLS protein2002
regulator of G-protein signaling 42002
peroxisome proliferator activated receptor gamma6006
histone-lysine N-methyltransferase 2A isoform 2 precursor1001
DNA polymerase kappa isoform 11001
Prostaglandin G/H synthase 1 0101
Trypsin0101
Cytochrome P450 1A20101
Coagulation factor VII0101
Tissue factor0101
Retinoic acid receptor RXR-alpha0202
Peroxisome proliferator-activated receptor gamma0011
Prostaglandin G/H synthase 20101
Oxoeicosanoid receptor 10101
Chain A, TYROSYL-DNA PHOSPHODIESTERASE2002
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
Chain A, JmjC domain-containing histone demethylation protein 3A1001
Chain A, 2-oxoglutarate Oxygenase1001
Chain A, Ferritin light chain1001
Chain A, Cruzipain2002
acid sphingomyelinase1001
interleukin 83003
acetylcholinesterase4004
glp-1 receptor, partial1001
BRCA11001
15-lipoxygenase, partial3003
pregnane X receptor3003
hypoxia-inducible factor 1 alpha subunit2002
SMAD family member 23003
NFKB1 protein, partial1001
SMAD family member 33003
Thrombopoietin1001
Smad31001
caspase 7, apoptosis-related cysteine protease2002
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
estrogen receptor 2 (ER beta)4004
progesterone receptor2002
nonstructural protein 11001
retinoid X nuclear receptor alpha5005
farnesoid X nuclear receptor2002
G2002
cytochrome P450 2D62002
67.9K protein1001
glucocerebrosidase2002
Parkin1001
P531001
peroxisome proliferator-activated receptor delta4004
vitamin D (1,25- dihydroxyvitamin D3) receptor4004
caspase-32002
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
v-jun sarcoma virus 17 oncogene homolog (avian)2002
nuclear receptor subfamily 1, group I, member 22002
Caspase-72002
Bloom syndrome protein isoform 11001
peripheral myelin protein 22 isoform 11001
cellular tumor antigen p53 isoform a2002
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
thyroid hormone receptor beta isoform a1001
potassium voltage-gated channel subfamily H member 2 isoform d3003
caspase-32002
histone deacetylase 9 isoform 31001
huntingtin isoform 21001
mitogen-activated protein kinase 12002
nuclear factor NF-kappa-B p105 subunit isoform 11001
flap endonuclease 11001
ras-related protein Rab-9A1001
nuclear factor erythroid 2-related factor 2 isoform 14004
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
nuclear receptor ROR-gamma isoform 13003
peripheral myelin protein 222002
cytochrome P450 3A4 isoform 13003
M-phase phosphoprotein 81001
lethal factor (plasmid)2002
Gamma-aminobutyric acid receptor subunit pi3003
Glycoprotein hormones alpha chain1001
HLA class I histocompatibility antigen, B alpha chain 2002
Retinol-binding protein 40033
Integrin beta-32002
Prosaposin0011
Integrin alpha-IIb2002
Retinoic acid receptor gamma 0101
Gamma-aminobutyric acid receptor subunit beta-13003
Gamma-aminobutyric acid receptor subunit delta3003
Gamma-aminobutyric acid receptor subunit gamma-23003
5-hydroxytryptamine receptor 1A0303
Gamma-aminobutyric acid receptor subunit alpha-53003
Gamma-aminobutyric acid receptor subunit alpha-33003
Gamma-aminobutyric acid receptor subunit gamma-13003
Gamma-aminobutyric acid receptor subunit alpha-23003
Gamma-aminobutyric acid receptor subunit alpha-43003
Gamma-aminobutyric acid receptor subunit gamma-33003
Retinoic acid receptor RXR-beta0101
Indoleamine 2,3-dioxygenase 10101
Gamma-aminobutyric acid receptor subunit alpha-63003
Retinoic acid receptor RXR-gamma0101
Nuclear receptor ROR-gamma3003
Gamma-aminobutyric acid receptor subunit alpha-13003
Gamma-aminobutyric acid receptor subunit beta-33003
Guanine nucleotide-binding protein G1001
Gamma-aminobutyric acid receptor subunit beta-23003
Indoleamine 2,3-dioxygenase 20101
GABA theta subunit3003
Inositol hexakisphosphate kinase 12002
Gamma-aminobutyric acid receptor subunit epsilon3003
cytochrome P450 2C9, partial2002
guanine nucleotide-binding protein subunit alpha-150112
trace amine-associated receptor 10112
Solute carrier family 22 member 1 0101
Amine oxidase [flavin-containing] A0101
5-hydroxytryptamine receptor 2A0202
5-hydroxytryptamine receptor 1B0202
Spike glycoprotein2013
Nischarin0101
Genome polyprotein 0101
Spike glycoprotein0011
Replicase polyprotein 1ab0011
Transmembrane protease serine 20011
Procathepsin L0011
Muscarinic acetylcholine receptor M20202
Muscarinic acetylcholine receptor M40101
Muscarinic acetylcholine receptor M50101
Replicase polyprotein 1a0011
Replicase polyprotein 1ab0011
Muscarinic acetylcholine receptor M10101
Muscarinic acetylcholine receptor M30101
Sigma intracellular receptor 20101
Cyclic GMP-AMP synthase0101
Sigma non-opioid intracellular receptor 10101
Angiotensin-converting enzyme 2 0011
Toll-like receptor 90101
Toll-like receptor 70101
Cytochrome P450 2C80101
Cytochrome P450 2C9 0101
Cystic fibrosis transmembrane conductance regulator0022
retinoic acid receptor alpha isoform 10101
retinoic acid receptor RXR-alpha isoform a0101
Proton-coupled amino acid transporter 10101
Chain A, Cellular retinoic acid-binding protein 20011
Chain A, Cellular retinoic acid-binding protein 20011
Luciferase1001
Histone H2A.x1001
Aldo-keto reductase family 1 member B100002
Amyloid-beta precursor protein0202
Aldo-keto reductase family 1 member B10001
Chain A, PLASMA RETINOL-BINDING PROTEIN PRECURSOR0011
thyroid stimulating hormone receptor1001
parathyroid hormone/parathyroid hormone-related peptide receptor precursor1001
ubiquitin carboxyl-terminal hydrolase 2 isoform a1001
DNA polymerase iota isoform a (long)1001
Beta-lactoglobulin0011
Disintegrin and metalloproteinase domain-containing protein 171001
Retinoid isomerohydrolase 0101
Aspartyl/asparaginyl beta-hydroxylase0101
HD2 type histone deacetylase HDA106 0101
aryl hydrocarbon receptor1001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]