Page last updated: 2024-09-27

Congenital X-Linked Retinoschisis

X chromosome recessive disorder, found nearly exclusively in males and becoming apparent around puberty. Characterized initially by a cystlike structure involving the FOVEA CENTRALIS, a peripheral retinoschisis occurs in about half the patients.

Synonyms(10)

Synonym
Congenital X-Linked Retinoschisis
Retinoschisis, Juvenile, X Chromosome-Linked
Retinoschisis, Juvenile, X-Linked
Retinoschisis, Degenerative
Retinoschisis, X-Linked
Retinoschisis
Retinoschisis X-Linked Juvenile
X-Linked Juvenile Retinoschisis
Retinoschisis, Juvenile
X-Linked Retinoschisis

Research Excerpts

Overview

ExcerptReference
"X-linked retinoschisis is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration."( Biswas, S; Parry, NR; Sikkink, SK; Stanga, PE; Trump, D, 2007)
"X-linked retinoschisis is a very rare disease in women due to its X-linked recessive inheritance and the foveal cysts associated with it can respond to carbonic anhydrase inhibitors."( Ali, S; Seth, R, 2013)
"X-linked retinoschisis is one of the more frequently encountered inherited macular retinal disorders affecting young males, causing loss of vision."( Sadaka, A; Sisk, RA, 2016)

Treatment

ExcerptReference
"To describe a case of X-linked retinoschisis with pseudophakic cystoid macular edema treated by posterior subtenon injection of triamcinolone acetonide."( Lin, WC; Wang, JK, 2013)
"In the treatment of macular retinoschisis in highly myopic eyes, vitrectomy associated with posterior hyaloid membranes peeling may achieve successful anatomical results."( Duan, AL; Meng, X; Qi, Y; Wang, N, 2016)

Research

Studies (99)

TimeframeStudies, This Condition (%)All Conditions %
pre-19901 (1.01)23.3326
1990's0 (0.00)12.5806
2000's24 (24.24)18.1394
2010's63 (63.64)28.8240
2020's11 (11.11)9.53
DrugIndicatedRelationship StrengthStudiesTrials
uric acid0low10
acetazolamide0medium111
2-propanol0low10
apnea0low10
serine0low10
triamcinolone diacetate0low10
tryptophan0low10
perflutren0low240
triamcinolone acetonide0low30
thiophenes0low150
c.i. 425100low10
ethylnitrosourea0low10
sulfur hexafluoride0low120
Brilliant Blue0low10
trolamine salicylate0low20
phenyl acetate0low10
triamcinolone0low10
timolol0low10
paclitaxel0low10
propiconazole0low10
brinzolamide0low20
ouabain0low10
genipin0low10
y 276320low10
iridoids0low10
digoxin0low10
11-cis-retinal0low20
travoprost0low10
phenylephrine hydrochloride0low10
dorzolamide0low170
cloprostenol0low10
cysteine0low40
silicon0low10
ammonium sulfate0low10
coomassie brilliant blue0low10
jasplakinolide0low10
indocyanine green0low140
sodium ethylxanthate0low10
budesonide, formoterol fumarate drug combination0low10
cytochalasin d0low10
dibutyryl cyclic gmp0low10
eye0low10

Protein Targets (480)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, Retinaldehyde-binding protein 10011
Chain A, Retinaldehyde-binding protein 10011
hypoxia-inducible factor 1 alpha subunit4004
RAR-related orphan receptor gamma120012
GLI family zinc finger 3130013
AR protein140014
aldehyde dehydrogenase 1 family, member A11001
retinoic acid nuclear receptor alpha variant 1120012
retinoid X nuclear receptor alpha110011
estrogen nuclear receptor alpha140014
peroxisome proliferator-activated receptor delta7007
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a120012
activating transcription factor 65005
v-jun sarcoma virus 17 oncogene homolog (avian)6006
Histone H2A.x3003
thyroid hormone receptor beta isoform a4004
heat shock protein beta-14004
nuclear factor erythroid 2-related factor 2 isoform 1100010
lamin isoform A-delta10110011
Voltage-dependent calcium channel gamma-2 subunit8008
Glutamate receptor 28008
Chain A, TYROSYL-DNA PHOSPHODIESTERASE2002
Chain A, CARBONIC ANHYDRASE II0011
Chain A, CARBONIC ANHYDRASE II0011
Chain A, CARBONIC ANHYDRASE II0011
Chain A, Carbonic Anhydrase Ii0011
Chain A, Carbonic Anhydrase Ii0011
Chain A, Beta-lactamase6006
Chain A, Endochitinase0101
Chain A, Endochitinase0101
Chain A, Endochitinase0101
Chain A, Class Iii Chitinase Chia10101
Chain A, Carbonic anhydrase 130101
Chain A, Carbonic anhydrase II0101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase 20101
Chain A, Carbonic anhydrase0101
Chain B, Carbonic anhydrase0101
Chain A, Carbonic anhydrase 20101
Carbonic anhydrase 0003
Carbonic anhydrase 0303
thioredoxin reductase9009
GALC protein2002
nuclear receptor subfamily 1, group I, member 36006
cytochrome P450 family 3 subfamily A polypeptide 45005
glucocorticoid receptor [Homo sapiens]140014
estrogen-related nuclear receptor alpha130013
Carbonic anhydrase 0303
Carbonic anhydrase 0303
arylsulfatase A6006
Carbonic anhydrase0303
euchromatic histone-lysine N-methyltransferase 29009
Bloom syndrome protein isoform 15005
geminin7007
peripheral myelin protein 223003
survival motor neuron protein isoform d2002
muscleblind-like protein 1 isoform 12002
Gamma-aminobutyric acid receptor subunit pi2114
ATP-binding cassette sub-family C member 30808
Multidrug resistance-associated protein 40808
Carbonic anhydrase0303
Solute carrier family 22 member 60101
Carbonic anhydrase 1204110
Prolyl endopeptidase0101
Carbonic anhydrase-related protein 110102
Bile salt export pump010010
Glycogen phosphorylase, muscle form0101
Renin0202
Carbonic anhydrase 105113
Carbonic anhydrase 206315
Carbonic anhydrase 20202
Cytochrome P450 1A20101
Carbonic anhydrase 30419
Cathepsin B0101
Cytochrome P450 3A40304
Steryl-sulfatase0101
5-hydroxytryptamine receptor 2C0303
Polyunsaturated fatty acid 5-lipoxygenase0101
Cytochrome P450 2C80101
Cytochrome P450 2D60202
Cytochrome P450 2A60101
Cytochrome P450 2C9 0303
5-hydroxytryptamine receptor 2A0303
Androgen receptor0303
Gamma-aminobutyric acid receptor subunit beta-12114
Translocator protein0101
Gamma-aminobutyric acid receptor subunit delta2114
Gamma-aminobutyric acid receptor subunit gamma-22114
Gamma-aminobutyric acid receptor subunit alpha-52114
Gamma-aminobutyric acid receptor subunit alpha-32114
Cannabinoid receptor 10101
Arachidonate 5-lipoxygenase-activating protein0101
Cytochrome P450 2B60101
Carbonic anhydrase 406111
Carbonic anhydrase 60419
Gamma-aminobutyric acid receptor subunit gamma-12114
Gamma-aminobutyric acid receptor subunit alpha-22114
Carbonic anhydrase 5A, mitochondrial0303
Adenosine receptor A10101
Serum paraoxonase/arylesterase 10202
Dipeptidyl peptidase 40001
Gamma-aminobutyric acid receptor subunit alpha-42114
Gamma-aminobutyric acid receptor subunit gamma-32114
Endochitinase0101
Gamma-aminobutyric acid receptor subunit alpha-62114
Adenosine receptor A2a0101
5-hydroxytryptamine receptor 2B0303
Sodium-dependent serotonin transporter0101
Delta-type opioid receptor0303
Cytochrome P450 2C190101
Delta-type opioid receptor0303
Mu-type opioid receptor0303
Carbonic anhydrase 5A, mitochondrial04110
Carbonic anhydrase0203
Kappa-type opioid receptor0101
Carbonic anhydrase 70419
Carbonic anhydrase0101
D(1A) dopamine receptor0101
Corticosteroid 11-beta-dehydrogenase isozyme 10101
Carbonic anhydrase0304
D(2) dopamine receptor0101
Gamma-aminobutyric acid receptor subunit alpha-12114
Gamma-aminobutyric acid receptor subunit beta-32114
Gamma-aminobutyric acid receptor subunit beta-22114
Cholinesterase0202
Carbonic anhydrase 0303
Mu-type opioid receptor0303
Fatty-acid amide hydrolase 10101
Beta-carbonic anhydrase 10303
Carbonic anhydrase 20303
Glutamate receptor ionotropic, NMDA 2B0102
Squalene synthase0101
Neuronal acetylcholine receptor subunit alpha-70101
Carbonic anhydrase 905111
Carbonic anhydrase0101
Carbonic anhydrase, alpha family 0303
Carbonic anhydrase 0304
Carbonic anhydrase 30101
Carbonic anhydrase0204
Carbonic anhydrase0305
Carbonic anhydrase 0303
Sigma intracellular receptor 20101
Delta carbonic anhydrase0303
Sigma non-opioid intracellular receptor 10101
Renin0101
Carbonic anhydrase 0304
Endochitinase A10101
Multidrug resistance-associated protein 10101
Carbonic anhydrase 130416
GABA theta subunit2114
Canalicular multispecific organic anion transporter 10808
Carbonic anhydrase 40505
Carbonic anhydrase 150305
Acidic mammalian chitinase0101
Carbonic anhydrase 130407
Carbonic anhydrase 70101
Gamma-aminobutyric acid receptor subunit epsilon2114
Carbonic anhydrase 0101
Carbonic anhydrase 1404110
Carbonic anhydrase 0101
Carbonic anhydrase 2, isoform A 0101
Carbonic anhydrase 5B, mitochondrial04110
ATAD5 protein, partial6006
TDP1 protein110011
Microtubule-associated protein tau2002
D(1A) dopamine receptor1001
neuropeptide S receptor isoform A1001
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE2002
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
phosphopantetheinyl transferase5005
NFKB1 protein, partial3003
GLS protein2002
thyroid stimulating hormone receptor2002
alpha-galactosidase2002
cytochrome P450 2C19 precursor1001
chromobox protein homolog 17007
flap endonuclease 12002
DNA polymerase iota isoform a (long)3003
muscarinic acetylcholine receptor M13003
lethal factor (plasmid)5005
Nitric oxide synthase, endothelial0002
Nitric oxide synthase, brain0001
Nitric oxide synthase, brain 0001
Nitric oxide synthase, inducible0001
Nitric oxide synthase, inducible0013
Cationic amino acid transporter 30101
ATP-dependent phosphofructokinase4004
Luciferase3003
caspase 7, apoptosis-related cysteine protease1001
pregnane X nuclear receptor9009
caspase-31001
thyroid stimulating hormone receptor5005
thyroid hormone receptor beta isoform 26006
histone deacetylase 9 isoform 31001
ATPase family AAA domain-containing protein 58008
Ataxin-28008
Pannexin-10101
Chain A, CARBONIC ANHYDRASE IV0101
cystic fibrosis transmembrane conductance regulator ATP-binding cassette sub-family C member 70001
cytochrome P450 2D63003
bromodomain adjacent to zinc finger domain 2B2002
importin subunit beta-1 isoform 11001
snurportin-11001
GTP-binding nuclear protein Ran isoform 11001
progesterone receptor9009
peroxisome proliferator activated receptor gamma8008
nuclear receptor subfamily 1, group I, member 24004
Cellular tumor antigen p539009
Prostaglandin G/H synthase 1 0101
Prostaglandin G/H synthase 2 0101
Thromboxane A2 receptor 0112
Prostaglandin E2 receptor EP1 subtype0112
Prostaglandin E2 receptor EP4 subtype0101
Prostaglandin F2-alpha receptor0213
Prostaglandin E2 receptor EP3 subtype0112
Prostaglandin E2 receptor EP2 subtype0101
Prostacyclin receptor0101
Prostaglandin D2 receptor0101
Chain A, ATP-DEPENDENT DNA HELICASE Q11001
Chain A, Cruzipain1001
interleukin 82002
PAX80001
SMAD family member 25005
PPM1D protein2002
SMAD family member 35005
STAT3, partial0202
thioredoxin glutathione reductase3003
Smad32002
estrogen receptor 2 (ER beta)4004
regulator of G-protein signaling 43003
farnesoid X nuclear receptor4004
67.9K protein2002
vitamin D (1,25- dihydroxyvitamin D3) receptor7007
IDH14004
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a5005
NPC intracellular cholesterol transporter 1 precursor3003
cellular tumor antigen p53 isoform a1001
tumor necrosis factor1001
nuclear factor erythroid 2-related factor 2 isoform 24004
parathyroid hormone/parathyroid hormone-related peptide receptor precursor1001
ras-related protein Rab-9A2002
signal transducer and activator of transcription 1-alpha/beta isoform alpha0202
nuclear receptor ROR-gamma isoform 13003
Solute carrier organic anion transporter family member 1A40103
Interferon beta4004
Sodium/potassium-transporting ATPase subunit alpha-1 0405
Sodium/potassium-transporting ATPase subunit beta-10405
Integrin beta-31102
Sodium/potassium-transporting ATPase subunit alpha-20202
Sodium/potassium-transporting ATPase subunit alpha-3 0202
ATP-dependent translocase ABCB10101
Sodium/potassium-transporting ATPase subunit beta-1 0202
ATP-dependent translocase ABCB10205
Integrin alpha-IIb1001
Replicase polyprotein 1ab0202
Sodium/potassium-transporting ATPase subunit alpha-30203
Sodium/potassium-transporting ATPase subunit beta-20203
ATP-dependent translocase ABCB10202
Sodium/potassium-transporting ATPase subunit alpha-20405
Sodium/potassium-transporting ATPase subunit alpha-10101
Nuclear receptor ROR-gamma1113
Sodium/potassium-transporting ATPase subunit beta-30203
Sodium/potassium-transporting ATPase subunit gamma0203
Sodium/potassium-transporting ATPase subunit alpha-40203
Sodium/potassium-transporting ATPase subunit alpha-40202
Solute carrier organic anion transporter family member 4C10002
Solute carrier organic anion transporter family member 4C10001
Solute carrier organic anion transporter family member 1A40001
Solute carrier organic anion transporter family member 1B30303
Solute carrier organic anion transporter family member 1B10303
Chain A, CARBONIC ANHYDRASE II0101
Chain A, CARBONIC ANHYDRASE II0101
Chain A, CARBONIC ANHYDRASE II0101
Androgen receptor0303
pregnane X receptor3003
Fumarate hydratase1001
polyprotein1001
Tyrosine-protein phosphatase non-receptor type 20101
Tyrosine-protein phosphatase non-receptor type 10101
Tyrosine-protein phosphatase non-receptor type 110101
Chain H, Igg2b-kappa 40-50 Fab (heavy Chain)0101
Chain L, Igg2b-kappa 40-50 Fab (light Chain)0101
Chain A, Na, K-ATPase alpha subunit0011
Kruppel-like factor 50101
peripheral myelin protein 22 isoform 13003
Solute carrier organic anion transporter family member 1A50001
Sodium/potassium-transporting ATPase subunit alpha-1 0101
Muscarinic acetylcholine receptor M10101
Solute carrier organic anion transporter family member 1A10001
Solute carrier organic anion transporter family member 1A20001
Potassium voltage-gated channel subfamily H member 20202
Sodium/potassium-transporting ATPase subunit beta-30101
Genome polyprotein 0101
Tyrosine-protein kinase ABL10101
Epidermal growth factor receptor0101
Tubulin alpha-1A chain0012
Tubulin beta chain0011
Tubulin beta-4A chain0113
Receptor tyrosine-protein kinase erbB-20101
Tyrosine-protein kinase Fyn0101
Integrin alpha-V 0101
Tubulin beta chain0113
60 kDa chaperonin0101
Tubulin alpha-3C chain0113
Botulinum neurotoxin type A 0101
Apoptosis regulator Bcl-20101
60 kDa heat shock protein, mitochondrial0101
Fibroblast growth factor receptor 10101
Proto-oncogene tyrosine-protein kinase Src0101
UDP-glucuronosyltransferase 2B70101
UDP-glucuronosyltransferase 1-60101
Substance-K receptor0202
UDP-glucuronosyltransferase 1A1 0101
UDP-glucuronosyltransferase 1A40101
Cholecystokinin receptor type A0202
Melanocortin receptor 50202
UDP-glucuronosyltransferase 2B10 0101
Delta-type opioid receptor0202
10 kDa heat shock protein, mitochondrial0101
Tubulin alpha-1B chain0113
Tubulin alpha-4A chain0113
Tubulin beta-4B chain0113
Bcl-2-like protein 10101
Tyrosine-protein kinase Mer0101
Tubulin beta-3 chain0214
Tubulin beta-2A chain0113
Thiosulfate sulfurtransferase0101
Beta-tubulin 0101
Tubulin beta-8 chain0113
60 kDa chaperonin 0101
Tubulin beta-2B chain0013
Tubulin alpha-3E chain0113
Tubulin alpha-1A chain0113
10 kDa chaperonin 0101
Similar to alpha-tubulin isoform 1 0013
Similar to alpha-tubulin isoform 1 0002
Tubulin alpha-1C chain0113
Tubulin beta-6 chain0113
Tubulin beta-2B chain0113
Tubulin beta-1 chain0113
Nucleotide-binding oligomerization domain-containing protein 20101
Chain A, 2-oxoglutarate Oxygenase3003
glp-1 receptor, partial3003
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)4004
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
Spike glycoprotein1001
luciferase0001
aryl hydrocarbon receptor4004
Fatty acid-binding protein, liver0101
Estrogen receptor0202
Glucocorticoid receptor06112
Progesterone receptor0203
Glucocorticoid receptor0112
Glucocorticoid receptor0011
Glycine receptor subunit alpha-10606
Corticosteroid-binding globulin0101
Mineralocorticoid receptor 0213
Glutamine synthetase0011
Glycine receptor subunit beta0606
Glycine receptor subunit alpha-20606
Glycine receptor subunit alpha-30606
Histamine H1 receptor0011
Prostaglandin G/H synthase 20101
Nociceptin receptor0011
Cytochrome P450 2J20202
Estrogen receptor beta0202
Glutamate 5-kinase0001
Angiotensin-converting enzyme 0101
Glutamate receptor ionotropic, NMDA 1 0102
Neutral amino acid transporter A0202
Neutral amino acid transporter B(0)0202
Proton-coupled amino acid transporter 10202
Amino acid transporter0202
Chain A, Ferritin light chain1001
nonstructural protein 11001
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
vitamin D3 receptor isoform VDRA1001
heat shock protein HSP 90-alpha isoform 20001
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
Histamine H2 receptor1001
Guanine nucleotide-binding protein G1001
TAR DNA-binding protein 432002
heat shock protein 90, putative0001
DNA polymerase kappa isoform 11001
Acetylcholinesterase0101
Pyruvate kinase PKM0011
Caspase-71001
caspase-31001
Beta-1 adrenergic receptor 0011
cytochrome P450 2D6 isoform 11001
cytochrome P450 3A4 isoform 12002
Beta-2 adrenergic receptor0202
Beta-1 adrenergic receptor0202
Beta-3 adrenergic receptor0202
Beta-1 adrenergic receptor0101
5-hydroxytryptamine receptor 1A0213
5-hydroxytryptamine receptor 1B0202
Beta-2 adrenergic receptor0011
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
procathepsin L isoform 1 preproprotein0101
Chain A, Trp Rna-binding Attenuation Protein0011
Chain K, Trp Rna-binding Attenuation Protein0011
Chain B, tryptophanyl-tRNA synthetase0011
Chain C, Tryptophanyl-tRNA synthetase II0011
histone-lysine N-methyltransferase 2A isoform 2 precursor1001
M-phase phosphoprotein 81001
Dihydrofolate reductase0202
Plasma kallikrein0001
Myeloperoxidase0101
Alkaline phosphatase, tissue-nonspecific isozyme0101
Stromelysin-10101
Intestinal-type alkaline phosphatase0101
Indoleamine 2,3-dioxygenase 10102
Substance-P receptor0101
Tryptophan 2,3-dioxygenase0102
Glutamate receptor ionotropic, NMDA 2A 0001
Glutamate receptor ionotropic, NMDA 2C0001
Large neutral amino acids transporter small subunit 10101
SLC16A10 protein0001
Uracil nucleotide/cysteinyl leukotriene receptor0101
Carbonic anhydrase-like protein, putative0001
Tryprostatin B synthase0001
Glutamate receptor ionotropic, NMDA 2D0001
2-C-methyl-D-erythritol 2,4-cyclodiphosphate synthase0011
Glutamate receptor ionotropic, NMDA 3B0001
Monocarboxylate transporter 100001
Glutamate receptor ionotropic, NMDA 3A0001
Phospholipase A-2-activating protein0101
Chain A, Glycogen phosphorylase, liver form0011
Chain A, glycogen phosphorylase, liver form0011
Chain A, Glycogen phosphorylase, liver form0011
Chain A, Glycogen phosphorylase, liver form0011
Solute carrier family 22 member 60001
Solute carrier family 22 member 80101
Solute carrier family 2, facilitated glucose transporter member 90112
Guanine deaminase0101
Chain E, cAMP-dependent protein kinase, alpha-catalytic subunit0101
Chain I, cAMP-dependent protein kinase inhibitor, alpha form0101
Chain B, Rho-associated protein kinase 10101
Chain A, Rho-associated protein kinase 10101
Chain A, Rho-associated protein kinase 10101
Chain A, cAMP-dependent protein kinase, alpha-catalytic subunit0101
Chain A, cAMP-dependent protein kinase, alpha-catalytic subunit0101
Chain A, cAMP-dependent protein kinase, alpha-catalytic subunit0101
Chain I, cAMP-dependent protein kinase inhibitor alpha0101
Chain A, cAMP-dependent protein kinase, alpha-catalytic subunit0101
Chain A, cAMP-dependent protein kinase, alpha-catalytic subunit0101
Chain I, cAMP-dependent protein kinase inhibitor alpha0101
Chain A, Rho-associated protein kinase 10101
dopamine D1 receptor1001
EWS/FLI fusion protein1001
atrial natriuretic peptide receptor 1 precursor1001
Rho-associated protein kinase 20202
Ribosomal protein S6 kinase alpha-50101
cAMP-dependent protein kinase catalytic subunit alpha0101
cAMP-dependent protein kinase catalytic subunit alpha 0101
C-C motif chemokine 20101
cAMP-dependent protein kinase catalytic subunit alpha0101
cAMP-dependent protein kinase catalytic subunit gamma0101
cAMP-dependent protein kinase catalytic subunit beta0101
Rho-associated protein kinase 10202
Serine/threonine-protein kinase N20101
Rho-associated protein kinase 20101
Rho-associated protein kinase 20101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]