Page last updated: 2024-09-28

Albinism, Ocular

Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.

Synonyms(2)

Synonym
Ocular Albinism
Albinism, Ocular

Research Excerpts

Research

Studies (52)

TimeframeStudies, This Condition (%)All Conditions %
pre-19907 (13.46)23.3326
1990's14 (26.92)12.5806
2000's17 (32.69)18.1394
2010's13 (25.00)28.8240
2020's1 (1.92)9.53
DrugIndicatedRelationship StrengthStudiesTrials
glycine0low10
ethacridine0low10
baclofen0low10
2-propanol0low230
niclosamide0low10
ofloxacin0low10
carbostyril0low10
levodopa0low20
tyrosine0low40
pimozide0low10
phenyl acetate0low10
ng-nitroarginine methyl ester0low10
pefloxacin0low10
sparfloxacin0low10
fluorodeoxyglucose f180low10
u 74389f0low10
deoxyglucose0low10
levofloxacin0low10
tretinoin0low10
arachidonic acid0low10
linoleic acid0low10
11-cis-retinal0low30
zeaxanthin0low10
lutein0low10
phenylephrine hydrochloride0low10
cysteine0low10
indocyanine green0low20
phosphatidylcholines0low10
sodium ethylxanthate0low10
eye0low120

Protein Targets (445)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, Retinaldehyde-binding protein 10011
Chain A, Retinaldehyde-binding protein 10011
hypoxia-inducible factor 1 alpha subunit6006
RAR-related orphan receptor gamma7007
GLI family zinc finger 38008
AR protein130013
aldehyde dehydrogenase 1 family, member A18008
retinoic acid nuclear receptor alpha variant 16006
retinoid X nuclear receptor alpha6006
estrogen nuclear receptor alpha110011
peroxisome proliferator-activated receptor delta6006
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a7007
activating transcription factor 66006
v-jun sarcoma virus 17 oncogene homolog (avian)5005
Histone H2A.x2002
thyroid hormone receptor beta isoform a5005
heat shock protein beta-16006
nuclear factor erythroid 2-related factor 2 isoform 17007
lamin isoform A-delta108008
Voltage-dependent calcium channel gamma-2 subunit4004
Glutamate receptor 24004
Chain A, ADIPOCYTE LIPID-BINDING PROTEIN0011
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE6006
Chain A, SERUM ALBUMIN0011
Chain A, SERUM ALBUMIN0011
Chain A, TYROSYL-DNA PHOSPHODIESTERASE5005
Chain A, Beta-lactamase4004
Chain A, HADH2 protein4004
Chain B, HADH2 protein4004
Chain A, 2-oxoglutarate Oxygenase7007
Chain A, ATP-DEPENDENT DNA HELICASE Q13003
Chain A, Cruzipain3003
15-lipoxygenase, partial4004
phosphopantetheinyl transferase5005
USP1 protein, partial6006
TDP1 protein100010
Microtubule-associated protein tau4004
thioredoxin glutathione reductase2002
euchromatic histone-lysine N-methyltransferase 2110011
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)3003
Bloom syndrome protein isoform 18008
cellular tumor antigen p53 isoform a3003
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 13003
vitamin D3 receptor isoform VDRA4004
ubiquitin carboxyl-terminal hydrolase 2 isoform a3003
nuclear receptor ROR-gamma isoform 15005
lethal(3)malignant brain tumor-like protein 1 isoform I1001
DNA polymerase kappa isoform 17007
cytochrome P450 3A4 isoform 16006
histone acetyltransferase KAT2A isoform 18008
DNA dC->dU-editing enzyme APOBEC-3G isoform 11001
caspase-1 isoform alpha precursor1001
Fatty-acid amide hydrolase 10101
Gamma-aminobutyric acid receptor subunit pi6107
Polyunsaturated fatty acid lipoxygenase ALOX15B3003
Prostaglandin G/H synthase 1 0102
Trypsin0203
Coagulation factor VII0202
60 kDa chaperonin0202
60 kDa heat shock protein, mitochondrial0202
Aromatase0202
Tissue factor0202
Fatty acid-binding protein, adipocyte0314
Gamma-aminobutyric acid receptor subunit beta-16107
Gamma-aminobutyric acid receptor subunit delta6107
Gamma-aminobutyric acid receptor subunit gamma-26118
Gamma-aminobutyric acid receptor subunit alpha-56107
Gamma-aminobutyric acid receptor subunit alpha-36107
Gamma-aminobutyric acid receptor subunit gamma-16107
Gamma-aminobutyric acid receptor subunit alpha-26107
Gamma-aminobutyric acid receptor subunit alpha-46107
Gamma-aminobutyric acid receptor subunit gamma-36107
Gamma-aminobutyric acid receptor subunit alpha-66107
Prostaglandin G/H synthase 20012
Nuclear receptor subfamily 4 group A member 20022
Histamine H2 receptor3003
10 kDa heat shock protein, mitochondrial0202
Calmodulin 0001
Gamma-aminobutyric acid receptor subunit alpha-16118
Gamma-aminobutyric acid receptor subunit beta-36107
Gamma-aminobutyric acid receptor subunit beta-26118
Disintegrin and metalloproteinase domain-containing protein 172002
Prostaglandin G/H synthase 20102
Solute carrier organic anion transporter family member 2A10001
Fatty acid-binding protein 50202
Fatty acid-binding protein 50011
Thiosulfate sulfurtransferase0202
Lanosterol 14-alpha demethylase0101
60 kDa chaperonin 0202
10 kDa chaperonin 0202
GABA theta subunit6107
Gamma-aminobutyric acid receptor subunit epsilon6107
Solute carrier organic anion transporter family member 1B30202
Cytosolic phospholipase A2 gamma0101
Transient receptor potential cation channel subfamily V member 20101
Solute carrier organic anion transporter family member 1B10202
thioredoxin reductase8008
ATAD5 protein, partial3003
NFKB1 protein, partial2002
regulator of G-protein signaling 43003
67.9K protein3003
D(1A) dopamine receptor3003
ATP-binding cassette sub-family C member 30707
Multidrug resistance-associated protein 40707
Gamma-aminobutyric acid type B receptor subunit 20213
Gamma-aminobutyric acid type B receptor subunit 20202
Bile salt export pump0909
Canalicular multispecific organic anion transporter 10707
Gamma-aminobutyric acid type B receptor subunit 10213
Gamma-aminobutyric acid type B receptor subunit 10101
ATP-dependent phosphofructokinase4004
Chain A, Putative fructose-1,6-bisphosphate aldolase1001
Chain A, serum paraoxonase0101
Carbonic anhydrase 120103
Carbonic anhydrase 10103
Carbonic anhydrase 20103
Carbonic anhydrase 30103
Neutrophil cytosol factor 10101
Carbonic anhydrase 40103
Carbonic anhydrase 60103
Carbonic anhydrase 5A, mitochondrial0103
Carbonic anhydrase 70103
Carbonic anhydrase 90103
Carbonic anhydrase 130101
Poly [ADP-ribose] polymerase tankyrase-20101
Carbonic anhydrase 140103
Carbonic anhydrase 5B, mitochondrial0103
NPYLR7B0011
peripheral myelin protein 226006
Telomerase reverse transcriptase0101
Coagulation factor XII0101
Acetylcholinesterase0101
Liver carboxylesterase 10101
Glycine receptor subunit alpha-10022
Sodium- and chloride-dependent GABA transporter 20101
Sodium- and chloride-dependent GABA transporter 30101
Glutamate receptor ionotropic, NMDA 1 0215
Sodium- and chloride-dependent glycine transporter 10101
Glutamate receptor ionotropic, NMDA 2A 0215
Glutamate receptor ionotropic, NMDA 2B0215
Glutamate receptor ionotropic, NMDA 2C0215
Large neutral amino acids transporter small subunit 10303
Glutamate receptor ionotropic, NMDA 2D0215
Proton-coupled amino acid transporter 10101
Glutamate receptor ionotropic, NMDA 3B0215
Serine racemase0101
Olfactory receptor 51E20011
Glutamate receptor ionotropic, NMDA 3A0215
Sodium- and chloride-dependent glycine transporter 20101
Chain A, JmjC domain-containing histone demethylation protein 3A4004
Luciferase5005
dopamine D1 receptor1001
WRN1001
integrase, partial0101
lens epithelium-derived growth factor p750101
GLS protein2002
apical membrane antigen 1, AMA12002
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)5005
EWS/FLI fusion protein6006
glucocorticoid receptor [Homo sapiens]9009
vitamin D (1,25- dihydroxyvitamin D3) receptor6006
arylsulfatase A5005
pyruvate kinase2002
hexokinase-4 isoform 11001
atrial natriuretic peptide receptor 1 precursor3003
chromobox protein homolog 14004
glucokinase regulatory protein1001
importin subunit beta-1 isoform 11001
flap endonuclease 14004
snurportin-11001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 11001
DNA polymerase eta isoform 11001
DNA polymerase iota isoform a (long)3003
geminin7007
M-phase phosphoprotein 84004
muscarinic acetylcholine receptor M13003
Polyphenol oxidase 20002
Epidermal growth factor receptor0202
Plasma kallikrein0002
Tyrosine-protein kinase Lck0101
Tyrosine-protein kinase Fyn0101
Polyunsaturated fatty acid lipoxygenase ALOX150101
Tyrosinase0101
Adenosine receptor A10103
Adenosine receptor A2a0002
Carbonic anhydrase0002
Solute carrier family 15 member 10101
Carbonic anhydrase0002
SLC16A10 protein0002
Carbonic anhydrase 0002
Carbonic anhydrase-like protein, putative0002
Carbonic anhydrase0002
Carbonic anhydrase0002
Carbonic anhydrase 0002
Monocarboxylate transporter 100002
Carbonic anhydrase 150002
Carbonic anhydrase 130001
phosphoglycerate kinase1001
Replicase polyprotein 1ab0202
CAAX prenyl protease 2 isoform 20001
DNA polymerase beta2002
streptokinase A precursor0022
Bile salt export pump0101
Tubulin beta-4A chain0101
Tubulin beta chain0101
ATP-dependent translocase ABCB10102
Tubulin alpha-3C chain0101
Spike glycoprotein4105
Tubulin alpha-1B chain0101
Tubulin alpha-4A chain0101
Tubulin beta-4B chain0101
Fatty-acid amide hydrolase 10202
DNA gyrase subunit A0203
DNA primase0101
Potassium voltage-gated channel subfamily H member 20708
Tubulin beta-3 chain0101
Tubulin beta-2A chain0101
Tubulin beta-8 chain0101
Tubulin alpha-3E chain0101
Tubulin alpha-1A chain0101
Multidrug and toxin extrusion protein 10202
Tubulin alpha-1C chain0101
Tubulin beta-6 chain0101
Tubulin beta-2B chain0101
Tubulin beta-1 chain0101
acetylcholinesterase1001
SMAD family member 23003
SMAD family member 33003
caspase 7, apoptosis-related cysteine protease2002
thyroid stimulating hormone receptor3003
estrogen receptor 2 (ER beta)5005
progesterone receptor4004
estrogen-related nuclear receptor alpha6006
farnesoid X nuclear receptor5005
pregnane X nuclear receptor5005
peroxisome proliferator activated receptor gamma8008
caspase-32002
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a2002
thyroid hormone receptor beta isoform 27007
Free fatty acid receptor 10011
Sterol O-acyltransferase 10101
Cellular tumor antigen p537007
Fatty acid-binding protein, heart0202
Seed linoleate 13S-lipoxygenase-10101
Prostaglandin G/H synthase 10101
Tyrosine-protein phosphatase non-receptor type 70101
Sterol O-acyltransferase 10101
Aldo-keto reductase family 1 member C30101
Dual specificity protein phosphatase 30101
Peroxisome proliferator-activated receptor alpha1001
Free fatty acid receptor 40011
retinoic acid receptor alpha isoform 10101
retinoic acid receptor RXR-alpha isoform a0101
lethal factor (plasmid)3003
Neutrophil elastase0101
Nitric oxide synthase, endothelial0101
Nitric oxide synthase, endothelial0101
Nitric oxide synthase, brain0101
Nitric oxide synthase, inducible0101
Nitric oxide synthase, inducible0101
Collagenase 30101
Chain A, Ferritin light chain4004
endonuclease IV2002
glp-1 receptor, partial3003
Fumarate hydratase2002
GALC protein3003
TSHR protein1001
Thrombopoietin2002
PINK11001
nuclear receptor subfamily 1, group I, member 34004
cytochrome P450 family 3 subfamily A polypeptide 43003
nonstructural protein 12002
G3003
cytochrome P450 2D62002
polyprotein2002
Parkin2002
glucose-6-phosphate dehydrogenase-6-phosphogluconolactonase0101
IDH13003
aryl hydrocarbon receptor3003
Spike glycoprotein0101
cytochrome P450 2D6 isoform 12002
NPC intracellular cholesterol transporter 1 precursor1001
peripheral myelin protein 22 isoform 12002
cytochrome P450 2C19 precursor2002
cytochrome P450 2C9 precursor1001
glucose-6-phosphate 1-dehydrogenase isoform b0101
parathyroid hormone/parathyroid hormone-related peptide receptor precursor3003
histone deacetylase 9 isoform 31001
huntingtin isoform 22002
mitogen-activated protein kinase 13003
atrial natriuretic peptide receptor 2 precursor1001
ras-related protein Rab-9A2002
serine/threonine-protein kinase mTOR isoform 12002
urokinase-type plasminogen activator precursor2002
plasminogen precursor2002
urokinase plasminogen activator surface receptor precursor2002
survival motor neuron protein isoform d3003
pyruvate kinase PKM isoform b1001
Aurora kinase A0101
Transmembrane protease serine 20101
3-phosphoinositide-dependent protein kinase 10101
Tyrosine-protein kinase JAK20101
Tyrosine-protein kinase ABL10101
Interferon beta3003
HLA class I histocompatibility antigen, B alpha chain 3003
Integrin beta-32002
Procathepsin L0101
Tyrosine-protein kinase Lyn0101
Integrin alpha-IIb2002
Ornithine decarboxylase1002
Platelet-derived growth factor receptor beta0101
Replicase polyprotein 1a0101
Replicase polyprotein 1ab0101
Replicase polyprotein 1ab0101
Replicase polyprotein 1ab0101
Mast/stem cell growth factor receptor Kit0101
Fibroblast growth factor receptor 10101
Proto-oncogene tyrosine-protein kinase Src0101
Serine/threonine-protein kinase B-raf0101
Protein kinase C alpha type0101
Mitogen-activated protein kinase 10202
RAC-alpha serine/threonine-protein kinase0101
Vascular endothelial growth factor receptor 20101
Receptor-type tyrosine-protein kinase FLT30101
Alpha-synuclein1102
Signal transducer and activator of transcription 30101
Mitogen-activated protein kinase 80101
Glycogen synthase kinase-3 beta0101
D(1A) dopamine receptor2002
Guanine nucleotide-binding protein G1001
Angiopoietin-1 receptor0101
TAR DNA-binding protein 432002
Anoctamin-10101
Rap guanine nucleotide exchange factor 41001
Inositol hexakisphosphate kinase 13003
ATPase family AAA domain-containing protein 54004
Ataxin-24004
Angiotensin-converting enzyme 2 0101
cytochrome P450 2C9, partial3003
STE240001
nuclear factor erythroid 2-related factor 2 isoform 23003
CAAX prenyl protease0001
Albumin0011
DNA gyrase subunit A0102
DNA gyrase subunit B0102
DNA gyrase subunit B0102
thyroid stimulating hormone receptor3003
beta-2 adrenergic receptor1001
lysosomal alpha-glucosidase preproprotein1001
mu-type opioid receptor isoform MOR-10011
Vpr1001
5-hydroxytryptamine receptor 2A0011
Neuronal acetylcholine receptor subunit alpha-41001
Neuronal acetylcholine receptor subunit beta-21001
pregnane X receptor2002
DNA polymerase III, partial1001
bromodomain adjacent to zinc finger domain 2B2002
XBP10101
Caspase-73003
potassium voltage-gated channel subfamily H member 2 isoform d1001
caspase-33003
nuclear factor NF-kappa-B p105 subunit isoform 11001
DNA damage-inducible transcript 3 protein0101
neuropeptide S receptor isoform A1001
Solute carrier family 22 member 20101
Voltage-dependent T-type calcium channel subunit alpha-1G0011
Voltage-dependent L-type calcium channel subunit alpha-1F0202
Ubiquitin carboxyl-terminal hydrolase 10101
Potassium channel subfamily K member 20112
Sodium channel protein type 2 subunit alpha0101
ATP-dependent translocase ABCB10101
Cytochrome P450 3A40112
D(2) dopamine receptor0112
D0101
D(3) dopamine receptor0101
ATP-dependent translocase ABCB10101
Sodium-dependent dopamine transporter0101
D(1B) dopamine receptor0101
D(4) dopamine receptor0101
5-hydroxytryptamine receptor 7 0101
Mu-type opioid receptor0101
Sodium channel protein type 1 subunit alpha0101
Sodium channel protein type 4 subunit alpha0101
Delta-type opioid receptor0101
Kappa-type opioid receptor0101
5-hydroxytryptamine receptor 60101
D(2) dopamine receptor0202
Inositol monophosphatase 11001
Sodium channel protein type 7 subunit alpha0101
Voltage-dependent L-type calcium channel subunit alpha-1D 0202
Voltage-dependent L-type calcium channel subunit alpha-1S0202
Voltage-dependent L-type calcium channel subunit alpha-1C0202
Sodium channel protein type 5 subunit alpha0101
Sodium channel protein type 9 subunit alpha0101
Multidrug and toxin extrusion protein 20101
WD repeat-containing protein 480101
Sodium channel protein type 2 subunit alpha0101
Histamine H4 receptor0101
Sodium channel protein type 3 subunit alpha0101
Sodium channel protein type 11 subunit alpha0101
Sodium channel protein type 8 subunit alpha0101
Sodium channel protein type 10 subunit alpha0101
Angiotensin-converting enzyme0202
Nuclear receptor subfamily 3 group C member 3 0202
Chain A, Nuclear Receptor ROR-beta0101
thyrotropin-releasing hormone receptor1001
Ornithine decarboxylase0001
Amyloid-beta precursor protein0101
Cytochrome P450 1A20011
Adenosine receptor A30202
Retinoic acid receptor alpha0227
Cytochrome P450 2D60011
Retinoic acid receptor beta0227
Retinoic acid receptor alpha0123
Cytochrome P450 2C9 0011
Retinoic acid receptor gamma 0227
Alpha-1B adrenergic receptor0202
Alpha-1A adrenergic receptor0101
Retinoic acid receptor gamma0123
5-hydroxytryptamine receptor 1A0101
Retinoic acid receptor RXR-alpha0224
Retinoic acid receptor beta0123
Cellular retinoic acid-binding protein 20011
Alpha-1D adrenergic receptor0101
Retinoic acid receptor RXR-alpha0123
Retinoic acid receptor RXR-beta0224
Retinoic acid receptor RXR-beta0123
Retinoic acid receptor RXR-gamma0123
Indoleamine 2,3-dioxygenase 10101
Cytochrome P450 2C190011
Nuclear receptor ROR-alpha0101
Cellular retinoic acid-binding protein 10102
5-hydroxytryptamine receptor 2B0202
Alpha-1A adrenergic receptor0202
Retinoic acid receptor RXR-gamma0224
Nuclear receptor ROR-gamma0112
Cellular retinoic acid-binding protein 10011
Peptidyl-prolyl cis-trans isomerase NIMA-interacting 10213
Indoleamine 2,3-dioxygenase 20101
Nuclear receptor ROR-beta0101
Chain A, CHORISMATE MUTASE0101
Chain A, TYROSYL-tRNA SYNTHETASE0011
Tubulin--tyrosine ligase0101
Taste receptor type 2 member 140001
nuclear receptor subfamily 1, group I, member 21001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]