MCID: RTN025
MIFTS: 51

Retinoschisis malady

Categories: Genetic diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Retinoschisis

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Aliases & Descriptions for Retinoschisis:

Name: Retinoschisis 50 11 13 12 37 66
Retinoschisis 1, X-Linked, Juvenile 50
Retinoschisis, Juvenile, X-Linked 66
Retinoschisis Juvenile X-Linked 1 68
X-Linked Juvenile Retinoschisis 52
 
X-Linked Retinoschisis 52
Xlrs1 68
Xlrs 52
Rs1 68

Characteristics:

Orphanet epidemiological data:

52
x-linked juvenile retinoschisis:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

62
retinoschisis:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM50 312700
Disease Ontology11 DOID:8465
ICD1028 H33.10
ICD9CM30 361.10
MeSH37 D041441
NCIt43 C85046
Orphanet52 ORPHA792
ICD10 via Orphanet29 Q14.1

Summaries for Retinoschisis

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UniProtKB/Swiss-Prot:68 Retinoschisis juvenile X-linked 1: A vitreo-retinal dystrophy characterized by macular pathology and by splitting of the superficial layer of the retina. Macular changes are present in almost all cases. In the fundi, radially oriented intraretinal foveomacular cysts are seen in a spoke-wheel configuration, with the absence of foveal reflex in most cases. In addition, approximately half of cases have bilateral peripheral retinoschisis in the inferotemporal part of the retina. Aside from the typical fundus appearance, strabismus, nystagmus, axial hyperopia, defective color vision and foveal ectopy can be present. The most important complications are vitreous hemorrhage, retinal detachment, and neovascular glaucoma.

MalaCards based summary: Retinoschisis, also known as retinoschisis 1, x-linked, juvenile, is related to x-linked juvenile retinoschisis and juvenile retinoschisis, and has symptoms including abnormality of eye movement, glaucoma and abnormal electroretinogram. An important gene associated with Retinoschisis is RS1 (Retinoschisin 1), and among its related pathways are Protein digestion and absorption and Degradation of the extracellular matrix. Affiliated tissues include retina, eye and testes, and related mouse phenotypes are pigmentation and nervous system.

OMIM:50 X-linked retinoschisis (XLRS) is a retinal dystrophy that leads to schisis (splitting) of the neural retina leading to... (312700) more...

Wikipedia:69 Retinoschisis is an eye disease characterized by the abnormal splitting of the retina\'s neurosensory... more...

Related Diseases for Retinoschisis

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Diseases in the Retinoschisis family:

Retinoschisis Autosomal Dominant Juvenile Retinoschisis

Diseases related to Retinoschisis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1x-linked juvenile retinoschisis12.4
2juvenile retinoschisis12.4
3bullous retinoschisis12.1
4retinoschisis of fovea12.0
5retinoschisis autosomal dominant11.9
6flat retinoschisis11.9
7enhanced s-cone syndrome11.2
8goldmann-favre syndrome11.2
9reye syndrome10.9
10retinitis10.7
11retinal detachment10.6
12macular holes10.4
13pediatric extraocular retinoblastoma10.3NDP, RS1
14arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.2NDP, RS1
15retinal dystrophy in systemic or cerebroretinal lipidoses10.1COL2A1, RS1
16myopia10.1
17kallmann syndrome 310.1ATP1A3, RS1
18x-linked protoporphyria10.1ATP1A3, RS1
19tuberculous peritonitis10.0COL2A1, NDP
20regular astigmatism10.0NDP, RS1
21norrie disease10.0
22choroiditis10.0
23neovascular glaucoma10.0
24cavitary optic disc anomalies10.0
25coats disease9.9
26pars planitis9.9
27uveitis9.9
28neuropathy9.9
29shaken baby syndrome9.9
30senile reticular retinal degeneration9.9BEST1, COL2A1
31achondrogenesis, type ii or hypochondrogenesis9.8COL2A1, NDP, RS1
32ovarian embryonal carcinoma9.8BEST1, NDP, RS1
33dental pulp disease9.8COL2A1, NDP, RS1
34aplastic anemia9.7
35papillorenal syndrome9.7
36fundus albipunctatus9.7
37alport syndrome9.7
38retinitis pigmentosa9.7
39congenital stationary night blindness9.7
40fetal alcohol syndrome9.7
41cone dystrophy9.7
42persistent hyperplastic primary vitreous9.7
43amblyopia9.7
44microcephaly9.7
45intermediate uveitis9.7
46melanoma9.7
47retinal telangiectasia9.7
48retinal degeneration9.7
49night blindness9.7
50vitreous detachment9.7

Graphical network of the top 20 diseases related to Retinoschisis:



Diseases related to retinoschisis

Symptoms for Retinoschisis

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Symptoms by clinical synopsis from OMIM:

312700

Clinical features from OMIM:

312700

Symptoms:

 52 (show all 7)
  • abnormality of the eye
  • abnormality of eye movement
  • glaucoma
  • abnormality of vision
  • abnormal electroretinogram
  • cataract
  • retinoschisis

HPO human phenotypes related to Retinoschisis:

(show all 12)
id Description Frequency HPO Source Accession
1 abnormality of eye movement hallmark (90%) HP:0000496
2 glaucoma hallmark (90%) HP:0000501
3 abnormal electroretinogram hallmark (90%) HP:0000512
4 cataract hallmark (90%) HP:0000518
5 chorioretinal coloboma hallmark (90%) HP:0000567
6 progressive visual loss HP:0000529
7 chorioretinal atrophy HP:0000533
8 retinal detachment HP:0000541
9 retinal atrophy HP:0001105
10 cystic retinal degeneration HP:0007667
11 reduced amplitude of dark-adapted bright flash electroretinogram b-wave HP:0007984
12 retinoschisis HP:0030502

Drugs & Therapeutics for Retinoschisis

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Drugs for Retinoschisis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BupivacainePhase 410562180-92-9, 38396-39-32474
Synonyms:
( inverted exclamation markA)-bupivacaine
(+-)-Bupivacaine
(1)-1-Butyl-N-(2,6-dimethylphenyl)piperidine-2-carboxamide
(RS)-bupivacaine
(±)-bupivacaine
1-Butyl-2',6'-pipecoloxylidide
1-Butyl-N-(2,6-dimethylphenyl)-2-piperidinecarboxamide
1-butyl-N-(2,6-dimethylphenyl)piperidine-2-carboxamide
15233-43-9
2180-92-9
38396-39-3
AB00053674
AC-2096
AC1L1DRE
AC1Q5LX4
AH 250
AKOS001637202
AR-1A0242
Anekain
BPBio1_000298
BRD-A01636364-003-05-2
BSPBio_000270
BSPBio_002607
Bio-0886
Bloqueina
Bucaine
Bucaine (TN)
Bupivacaina
Bupivacaina [INN-Spanish]
Bupivacaine (INN)
Bupivacaine Carbonate
Bupivacaine HCL
Bupivacaine HCL KIT
Bupivacaine Monohydrochloride, Monohydrate
Bupivacaine [INN:BAN]
Bupivacainum
Bupivacainum [INN-Latin]
Bupivan
C07529
C18H28N2O
CBupivacaine
CHEBI:3215
CHEMBL1098
CID2474
Carbostesin
D07552
DB00297
DL-Bupivacaine
DUR-843
 
DepoBupivacaine
DivK1c_000758
EINECS 218-553-3
EINECS 253-911-2
HMS2090F12
IDI1_000758
KBio1_000758
KBio2_002004
KBio2_004572
KBio2_007140
KBio3_001827
KBioGR_001516
KBioSS_002004
KST-1A4609
L000695
LAC-43
LS-109841
LS-2222
MLS001361336
Marcaina
Marcaine
Marcaine HCL
Marcaine Spinal
MolPort-004-955-820
NCGC00178579-01
NCGC00178579-02
NINDS_000758
NSC119660
Prestwick0_000305
Prestwick1_000305
Prestwick2_000305
Prestwick3_000305
SMR000058218
SPBio_001558
SPBio_002489
Sensorcaine
Sensorcaine-MPF
Sensorcaine-MPF Spinal
Spectrum2_001589
Spectrum3_000974
Spectrum4_001098
Spectrum5_001483
Spectrum_001524
Transdur-Bupivacaine
UNII-Y8335394RO
Win 11318
Win 11318 HCl
bupivacaine
cBupivacaine
dl-1-Butyl-2',6'-pipecoloxylidide
racemic bupivacaine
2
TriamcinolonePhase 4463124-94-731307
Synonyms:
(8S,9R,10S,11S,13S,14S,16R,17S)-9-fluoro-11,16,17-trihydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,11,12,14,15,16-octahydrocyclopenta[a]phenanthren-3-one
11-beta,16-alpha,17-alpha,21-Tetrahydroxy-9-alpha-fluoro-1,4-pregnadiene-3,20-dione
11.Beta.,16.alpha.,17.alpha., 21-Tetrahydroxy-9.alpha.-fluoro-1,4-pregnadiene-3,20-dione
11.beta.,16.alpha.,17.alpha.,21-Tetrahydroxy-9.alpha.-fluoro-1,4-pregnadiene-3,20-dione
11β,16α,17α,21-tetrahydroxy-9α-fluoro-1,4-pregnadiene-3,20-dione
124-94-7
4-08-00-03629 (Beilstein Handbook Reference)
83474-03-7
9-Fluoro-11,16,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9-Fluoro-11beta,16alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9-alpha-Fluoro-11-beta,16-alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9-alpha-Fluoro-16-alpha-hydroxyprednisolone
9-fluoro-11β,16α,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9.Alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahy
9.Alpha.-Fluoro-11.beta.,16.alpha.,17.alpha., 21-tetrahydroxypregna-1,4-diene-3,20-d
9.alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahydroxy-1,4-pregnadiene-3,20-dione
9.alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9.alpha.-Fluoro-11.beta.,16.alpha.,17.alpha.,21-tetrahydroxypregna-1,4-diene-3,20-dione
9.alpha.-Fluoro-16.alpha.-hydroxyprednisolone
9alpha-Fluoro-11beta,16alpha,17,21-tetrahydroxy-1,4-pregnadiene-3,20-dione
9alpha-Fluoro-11beta,16alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9alpha-Fluoro-16alpha-hydroxyprednisolone
9α-fluoro-11β,16α,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9α-fluoro-11β,16α,17α,21-tetrahydroxypregna-1,4-diene-3,20-dione
9α-fluoro-16α-hydroxyprednisolone
AC-2072
AC1L1LDH
AC1Q5HJC
Adcortyl
Aristocort
Aristocort A
Aristocort Tablets
Aristogel
Aristospan
Azmacort
BPBio1_000154
BRD-K77554836-001-03-3
BRN 2341955
BSPBio_000140
Bio-0662
C21H27FO6
CHEMBL1451
CID31307
CL 19823
Celeste
Cinolone
Cinolone-T
D00385
D014221
DB00620
Delphicort
EINECS 204-718-7
EU-0101179
Fluoxiprednisolone
Fluoxyprednisolone
Flutex
Fougera
HMS1568G22
HMS2090D12
HSDB 3194
Kenacort
Kenacort (TN)
Kenacort-A
Kenacort-AG
Kenacort-Ag
Kenalog
Kenalog in Orabase
Kenalog-10
Kenalog-40
Kenalog-H
LS-698
Ledercort
Lopac0_001179
 
MLS000028542
MLS001066543
MLS002695935
MolPort-002-528-981
Mycolog
NCGC00021580-03
NCGC00021580-04
NCGC00021580-05
NCGC00021580-06
NCGC00021580-07
NCI60_000750
NSC 13397
NSC13397
Nasacort
Nasacort Aq
Nasacort Hfa
Omcilon
Omicilon
Oracort
Oralone
Orion
Polcortolon
Pregna-1,4-diene-3,20-dio
Pregna-1,4-diene-3,20-dione, 9-fluoro-11,16,17,21-tetrahydroxy-, (11beta,16alpha)
Pregna-1,4-diene-3,20-dione, 9-fluoro-11beta,16alpha,17,21-tetrahydroxy- (8CI)
Prestwick0_000120
Prestwick1_000120
Prestwick2_000120
Prestwick3_000120
Prestwick_438
Rodinolone
S1933_Selleck
SK-Triamcinolone
SMP1_000300
SMR000058333
SPBio_002079
Sk-Triamcinolone
T6376_SIGMA
TRIAMCINOLONE (SEE ALSO TRIAMCINOLONE ACETONIDE (76-25-5) AND TRIAMCINOLONE DIACETATE (67-78-7))
Tiamcinolonum
Tiamcinolonum [INN-Latin]
Tri-Nasal
Triacet
Triacort
Triam-Tablinen
Triamcet
Triamcinalone
Triamcinlon
Triamcinolon
Triamcinolona
Triamcinolona [INN-Spanish]
Triamcinolone (JP15/USP/INN)
Triamcinolone [USAN:INN:BAN:JAN]
Triamcinolone acetonide
Triamcinolone diacetate
Triamcinolone hexacetonide
Triamcinolonum
Triamcinolonum [INN]
Triatex
Tricortale
Triderm
Trilone
Tristoject
Trymex
UNII-1ZK20VI6TY
Vetalog
Volon
Volon A
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ GQ
ZINC03882036
droxypregna-1,4-diene-3,20-dione
ione
nchembio.2007.53-comp7
triamcinolone
3triamcinolone acetonidePhase 4463
4glucocorticoidsPhase 44756
5
DorzolamidePhase 466120279-96-13154, 5284549
Synonyms:
(4S,6S)-4-(ethylamino)-6-methyl-5,6-dihydro-4H-thieno[2,3-b]thiopyran-2-sulfonamide 7,7-dioxide
(4S,6S)-4-(ethylamino)-6-methyl-7,7-dioxo-5,6-dihydro-4H-thieno[2,3-b]thiopyran-2-sulfonamide
(4S,6S)-4-Ethylamino-6-methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda*6*-thieno[2,3-b]thiopyran-2-sulfonic acid amide
(4S,trans)-4-(Ethylamino)-6-methyl-5,6-dihydro-4H-thieno[2,3-b]thiopyran-2-sulfonamide 7,7-dioxide
(4S,trans)-4-(ethylamino)-6-methyl-5,6-dihydro-4H-thieno[2,3-b]thiopyran-2-sulfonamide 7,7-dioxide
(4S-TRANS)-4-(ETHYLAMINO)-5,6-DIHYDRO-6-METHYL-4H-THIENO(2,3-B)THIOPYRAN-2-SULFONAMIDE-7,7-DIOXIDE
(4S-trans)-4-(ETHYLAMINO)-5,6-dihydro-6-methyl-4H-thieno(2,3-b)thiopyran-2-sulfonamide-7,7-dioxide
120279-96-1
1cil
4-Ethylamino-6-methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda*6*-thieno[2,3-b]thiopyran-2-sulfonic acid amide
4-Ethylamino-6-methyl-7,7-dioxo-4,5,6,7-tetrahydro-7lambda6-thieno[2,3-b]thiopyran-2-sulfonic acid amide
4S,6S-Dorzolamide
AB00514687
AC1NR4NP
BIDD:GT0306
BPBio1_001377
BRD-K48617017-003-03-1
BSPBio_001252
C06969
CHEBI:4702
 
CHEMBL218490
CID5284549
D07871
DB04507
Dorzolamid
Dorzolamida
Dorzolamide
Dorzolamide (DZA)
Dorzolamide (INN)
Dorzolamidum
HMS2089O06
MolPort-005-941-739
Prestwick0_001116
Prestwick1_001116
Prestwick2_001116
Prestwick3_001116
SPBio_003116
STK645522
Trusopt
Trusopt (TN)
dorzolamide
6
Bevacizumab1938216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
7
Brinzolamide60138890-62-768844
Synonyms:
(+)-4-ETHYLAMINO-3,4-DIHYDRO-2-(METHOXY)PROPYL-2H-THIENO[3,2-E]-1,2-THIAZINE-6-SULFONAMIDE-1,1-DIOXIDE
(4R)-4-(ethylamino)-2-(3-methoxypropyl)-1,1-dioxo-3,4-dihydrothieno[3,2-e]thiazine-6-sulfonamide
(4R)-4-(ethylamino)-2-(3-methoxypropyl)-3,4-dihydro-2H-thieno[3,2-e][1,2]thiazine-6-sulfonamide 1,1-dioxide
(R)-4-(Ethylamino)-3,4-dihydro-2-(3-methoxypropyl)-2H-thieno(3,2-e)-1,2-thiazine-6-sulfonamide 1,1-dioxide
(R)-4-(ethylamino)-3,4-dihydro-2-(3-methoxypropyl)-2H-thieno(3,2-e)-1,2-thiazine-6-sulfonamide
138890-62-7
2H-Thieno(3,2-e)-1,2-thiazine-6-sulfonamide,4-(ethylamino)-3,4-dihydro-2-(3-methoxypropyl)-,1,1-dioxide,R
3znc
AB00513824
AC-5277
AC1L2AKA
AC1Q6UVB
AKOS005145708
AL 4862
AL-4862
AL04862
Alcon brand of brinzolamide
Allphar brand of brinzolamide
Azopt
Azopt (TN)
BIDD:GT0039
BPBio1_000539
BRD-K74913225-001-03-3
BSPBio_000489
BZ1
 
Birnzolamide
Brinzolamide
Brinzolamide (BRZ)
Brinzolamide (JAN/USP/INN)
Brinzolamide [USAN]
C07760
C111827
C12H21N3O5S3
CHEBI:3176
CHEMBL220491
CID68844
D00652
DB01194
FT-0082471
HMS1569I11
I09-0605
LS-173036
MLS002153787
MolPort-005-940-291
Prestwick0_000365
Prestwick1_000365
Prestwick2_000365
Prestwick3_000365
SMR001233169
SPBio_002410
UNII-9451Z89515

Interventional clinical trials:

(show all 17)
idNameStatusNCT IDPhase
1Postoperative Pain Control Following Vitreoretinal SurgeryCompletedNCT01995045Phase 4
2Treatment of Cystoid Macular Edema in Patients With Retinal DegenerationRecruitingNCT00716586Phase 4
3Safety and Efficacy of rAAV-hRS1 in Patients With X-linked Retinoschisis (XLRS)RecruitingNCT02416622Phase 1, Phase 2
4Study of RS1 Ocular Gene Transfer for X-linked RetinoschisisRecruitingNCT02317887Phase 1, Phase 2
5Macular Retinoschisis and Detachment Associated With Glaucomatous Optic NeuropathyCompletedNCT01862627
6Optical Coherence Tomography Evaluation of Retinoschisis and Retinal DetachmentCompletedNCT02682797
7Macular Detachment Associated With Intrachoroidal CavitationCompletedNCT01959724
8Vitrectomy for Optic Disc Pit MaculopathyCompletedNCT01340703
9Ultrastructure Analysis of Excised Internal Limiting Membrane in Eyes of Highly Myopia With Myopic Traction MaculopathyCompletedNCT02528058
10Optical Coherence Tomography Imaging of the Posterior Segment in High Myopia.CompletedNCT00347451
11Clinical and Genetic Studies of X-Linked Juvenile RetinoschisisRecruitingNCT00055029
12Macular Tractional Retinoschisis in Proliferative Diabetic RetinopathyRecruitingNCT01312207
13Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
14Triple Therapy for Diffuse Diabetic Macular EdemaRecruitingNCT01218750
15Clinical Evaluation of Patients With X-linked RetinoschisisActive, not recruitingNCT02331173
16People s Expectations When Enrolling in a Phase I/II RS1 Ocular Gene Transfer Clinical TrialEnrolling by invitationNCT02317354
17Pneumatic Retinopexy Versus Vitrectomy for Retinal Detachment in Patients With Extended CriteriaNot yet recruitingNCT02871531

Search NIH Clinical Center for Retinoschisis


Cochrane evidence based reviews: retinoschisis

Genetic Tests for Retinoschisis

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Anatomical Context for Retinoschisis

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MalaCards organs/tissues related to Retinoschisis:

34
Retina, Eye, Testes

Animal Models for Retinoschisis or affiliated genes

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MGI Mouse Phenotypes related to Retinoschisis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.6BEST1, NDP, RS1
2MP:00036317.4ATP1A3, COL2A1, CST3, NDP, RS1, TNC

Publications for Retinoschisis

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Articles related to Retinoschisis:

(show top 50)    (show all 569)
idTitleAuthorsYear
1
Resolution of foveal schisis in X-linked retinoschisis in the setting of retinal detachment. (25892045)
2015
2
Solid lipid nanoparticle-based vectors intended for the treatment of X-linked juvenile retinoschisis by gene therapy: In vivo approaches in Rs1h-deficient mouse model. (26400864)
2015
3
Laser treatment of macular retinoschisis due to acquired optic nerve pit from glaucoma. (26199301)
2015
4
Pars plana vitrectomy in patients with myopic macular retinoschisis. (24414402)
2014
5
Photoreceptor pathology in the X-linked retinoschisis (XLRS) mouse results in delayed rod maturation and impaired light driven transducin translocation. (24664744)
2014
6
Resolution of Mid-Peripheral Schisis in X-Linked Retinoschisis with the Use of Dorzolamide. (23514609)
2013
7
Retinoschisis: a predictive factor in vitrectomy for macular holes without retinal detachment in highly myopic eyes. (21586755)
2012
8
Effect of aging on macular features of X-linked retinoschisis assessed with optical coherence tomography. (21386765)
2011
9
Hemorrhagic Retinoschisis in Shaken Baby Syndrome Imaged with Spectral Domain Optical Coherence Tomography. (20337286)
2010
10
Optical Coherence Tomography Findings in Patients with Degenerative Retinoschisis and Symptomatic Retinal Detachment. (20337329)
2010
11
Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis. (20151283)
2010
12
Features associated with foveal retinal detachment in myopic macular retinoschisis. (20951972)
2010
13
Diagnosis and pathogenesis of congenital X-linked retinoschisis with optical coherence tomography. (20349904)
2010
14
Evaluation of focal retinal function using multifocal electroretinography in patients with X-linked retinoschisis. (20648073)
2010
15
Natural evolution from macular retinoschisis to full-thickness macular hole in highly myopic eyes. (20829889)
2010
16
In vivo imaging of the mouse model of X-linked juvenile retinoschisis with fourier domain optical coherence tomography. (19182246)
2009
17
Nanophthalmos and acquired retinoschisis. (18834578)
2009
18
Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile. (20960647)
2008
19
Vitrectomy for myopic posterior retinoschisis or foveal detachment. (16453188)
2006
20
STRATUS optical coherence tomography in unilateral colobomatous excavation of the optic disc and secondary retinoschisis. (15660280)
2005
21
Foveal schisis as a cause of retinal detachment secondary to macular hole in juvenile X-linked retinoschisis. (15805920)
2005
22
Optical coherence tomography findings in familiar foveal retinoschisis. (15183819)
2004
23
Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. (15531314)
2004
24
Consanguineous marriage resulting in homozygous occurrence of X-linked retinoschisis in girls. (14516833)
2003
25
Elevated macular retinoschisis associated with Goldmann-Favre syndrome successfully treated with grid laser photocoagulation. (11927864)
2002
26
Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis. (12383832)
2002
27
Foveal ectopia in X-linked retinoschisis. (11508883)
2001
28
Axial length and refractive error in X-linked retinoschisis. (11384589)
2001
29
Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene. (11594966)
2001
30
On- and off-responses of the photopic electroretinograms in X-linked juvenile retinoschisis. (11292413)
2001
31
Bilateral retinoschisis, retinal neovascularization, and severe myopia in a young female. (11011718)
2000
32
X-linked retinoschisis with point mutations in the XLRS1 gene. (10636421)
2000
33
Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. (10450864)
1999
34
Differentiation of degenerative retinoschisis from retinal detachment using optical coherence tomography. (10080221)
1999
35
Golden tapetal-like fundus reflex and posterior hyaloid in a patient with x-linked juvenile retinoschisis. (10048383)
1999
36
Use of perfluorocarbon liquid in the repair of retinoschisis retinal detachments. (8878197)
1996
37
Secondary retinoschisis in a dog. (7490341)
1995
38
X-Linked Juvenile Retinoschisis (20301401)
1993
39
Contribution to carrier detection and genetic counselling in X linked retinoschisis. (1678432)
1991
40
The management of retinal detachment complicating degenerative retinoschisis. (2913811)
1989
41
X-linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85. (2887320)
1987
42
Traumatic retinoschisis in battered babies. (3725321)
1986
43
Long-term natural history study of senile retinoschisis with implications for management. (3808625)
1986
44
Retinal hamartoma, acquired retinoschisis, and retinal hole. (4003506)
1985
45
Familial foveal retinoschisis associated with a rod-cone dystrophy. (306756)
1978
46
Retinoschisis. (1230226)
1975
47
Visual acuity in 183 cases of X-chromosomal retinoschisis. (4742888)
1973
48
Senile retinoschisis. Relationship to cystoid degeneration. (5434997)
1970
49
The treatment of 'dome-shaped' retinoschisis by photocoagulation. (5604459)
1967
50
HEREDITARY RETINOSCHISIS WITH RETINAL DETACHMENT. (14137967)
1964

Variations for Retinoschisis

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UniProtKB/Swiss-Prot genetic disease variations for Retinoschisis:

68 (show all 64)
id Symbol AA change Variation ID SNP ID
1RS1p.Glu72AspVAR_008180
2RS1p.Glu72LysVAR_008181
3RS1p.Gly74ValVAR_008182
4RS1p.Trp96ArgVAR_008183
5RS1p.Arg102TrpVAR_008184
6RS1p.Gly109ArgVAR_008185
7RS1p.Leu12HisVAR_008209
8RS1p.Leu13ProVAR_008210
9RS1p.Cys59SerVAR_008211
10RS1p.Tyr65CysVAR_008212
11RS1p.Gly70AlaVAR_008213
12RS1p.Gly70SerVAR_008214
13RS1p.Tyr89CysVAR_008215
14RS1p.Ala98GluVAR_008216
15RS1p.Arg102GlnVAR_008217
16RS1p.Leu103ArgVAR_008218
17RS1p.Phe108CysVAR_008219
18RS1p.Gly109GluVAR_008220
19RS1p.Gly109TrpVAR_008221
20RS1p.Cys110TyrVAR_008222
21RS1p.Trp112CysVAR_008223
22RS1p.Leu113PheVAR_008224
23RS1p.Leu127ProVAR_008225
24RS1p.Gly135ValVAR_008226
25RS1p.Ile136ThrVAR_008227
26RS1p.Thr138AlaVAR_008228
27RS1p.Gly140GluVAR_008229
28RS1p.Gly140ArgVAR_008230
29RS1p.Arg141CysVAR_008231
30RS1p.Arg141GlyVAR_008232
31RS1p.Arg141HisVAR_008233
32RS1p.Cys142TrpVAR_008234
33RS1p.Asp143ValVAR_008235
34RS1p.Glu146AspVAR_008236
35RS1p.Glu146LysVAR_008237
36RS1p.Tyr155CysVAR_008238
37RS1p.Trp163CysVAR_008240
38RS1p.Gly178AspVAR_008241
39RS1p.Arg182CysVAR_008242
40RS1p.Pro192ArgVAR_008243
41RS1p.Pro192SerVAR_008244
42RS1p.Pro193LeuVAR_008245
43RS1p.Pro193SerVAR_008246
44RS1p.Arg197CysVAR_008247
45RS1p.Arg197HisVAR_008248
46RS1p.Ile199ThrVAR_008249
47RS1p.Arg200CysVAR_008251
48RS1p.Arg200HisVAR_008252
49RS1p.Pro203LeuVAR_008253
50RS1p.His207GlnVAR_008254
51RS1p.Arg209HisVAR_008255
52RS1p.Arg213TrpVAR_008256
53RS1p.Glu215LysVAR_008257
54RS1p.Glu215GlnVAR_008258
55RS1p.Leu216ProVAR_008259
56RS1p.Cys219GlyVAR_008260
57RS1p.Cys219ArgVAR_008261
58RS1p.Cys223ArgVAR_008262
59RS1p.Ser73ProVAR_065326
60RS1p.Asp145HisVAR_065327
61RS1p.Arg156GlyVAR_065328
62RS1p.Pro192LeuVAR_065329
63RS1p.Arg209CysVAR_065330
64RS1p.Arg213GlnVAR_065331

Clinvar genetic disease variations for Retinoschisis:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000330.3(RS1): c.286T> C (p.Trp96Arg)single nucleotide variantPathogenicrs61752063GRCh37Chr X, 18665351: 18665351
2NM_000330.3(RS1): c.304C> T (p.Arg102Trp)single nucleotide variantPathogenicrs61752067GRCh37Chr X, 18665333: 18665333
3NM_000330.3(RS1): c.214G> A (p.Glu72Lys)single nucleotide variantPathogenicrs104894928GRCh37Chr X, 18665423: 18665423
4NM_000330.3(RS1): c.216G> C (p.Glu72Asp)single nucleotide variantPathogenicrs104894932GRCh37Chr X, 18665421: 18665421
5NM_000330.3(RS1): c.221G> T (p.Gly74Val)single nucleotide variantPathogenicrs104894933GRCh37Chr X, 18665416: 18665416
6NM_000330.3(RS1): c.325G> C (p.Gly109Arg)single nucleotide variantPathogenicrs104894934GRCh37Chr X, 18665312: 18665312
7RS1NM_000330.3(RS1): c.38T> C (p.Leu13Pro)single nucleotide variantPathogenicrs104894935GRCh37Chr X, 18690151: 18690151
8NM_000330.3(RS1): c.667T> C (p.Cys223Arg)single nucleotide variantPathogenicrs104894929GRCh37Chr X, 18660132: 18660132
9RS1RS1, 4-BP INSinsertionPathogenic
10NM_000330.3(RS1): c.608C> T (p.Pro203Leu)single nucleotide variantPathogenicrs104894930GRCh37Chr X, 18660191: 18660191
11NM_000330.3(RS1): c.305G> A (p.Arg102Gln)single nucleotide variantPathogenicrs61752068GRCh37Chr X, 18665332: 18665332
12NM_000330.3(RS1): c.574C> T (p.Pro192Ser)single nucleotide variantLikely pathogenicrs61753174GRCh37Chr X, 18660225: 18660225

Expression for genes affiliated with Retinoschisis

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Search GEO for disease gene expression data for Retinoschisis.

Pathways for genes affiliated with Retinoschisis

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Pathways related to Retinoschisis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5ATP1A3, COL2A1
2
Show member pathways
8.9COL2A1, MMP19, TNC

GO Terms for genes affiliated with Retinoschisis

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Cellular components related to Retinoschisis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:00056049.2COL2A1, CST3, TNC
2proteinaceous extracellular matrixGO:00055789.1COL2A1, MMP19, TNC
3extracellular matrixGO:00310128.5COL2A1, CST3, NDP, TNC
4extracellular spaceGO:00056158.0COL2A1, CST3, NDP, RS1, TNC
5extracellular regionGO:00055767.4COL2A1, CST3, MMP19, RS1, TNC

Biological processes related to Retinoschisis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:00305749.5COL2A1, MMP19
2visual perceptionGO:00076018.9BEST1, COL2A1, NDP, RS1

Sources for Retinoschisis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet