MCID: RTN025
MIFTS: 51

Retinoschisis malady

Genetic diseases, Eye diseases, Rare diseases, Fetal diseases categories

Aliases & Classifications for Retinoschisis

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Aliases & Descriptions for Retinoschisis:

Name: Retinoschisis 49 10 11 12 65 36
Retinoschisis Juvenile X-Linked 1 67
Retinoschisis, Unspecified 10
 
Retinoschisis Unspecified 10
Xlrs1 67
Rs1 67


Classifications:



External Ids:

OMIM49 312700
Disease Ontology10 DOID:8465
MeSH36 D041441
NCIt42 C85046
ICD9CM29 361.10

Summaries for Retinoschisis

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UniProtKB/Swiss-Prot:67 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 juvenile x-linked 1, is related to retinal disease and macular degeneration, age-related, 1, 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 is Protein digestion and absorption. Affiliated tissues include retina, eye and testes, and related mouse phenotypes are pigmentation and vision/eye.

OMIM:49 X-linked retinoschisis (XLRS) is a retinal dystrophy that leads to schisis (splitting) of the neural retina leading to... (312700) more...

Wikipedia:68 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:

Juvenile Retinoschisis Retinoschisis Autosomal Dominant

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

(show top 50)    (show all 143)
idRelated DiseaseScoreTop Affiliating Genes
1retinal disease30.2COL2A1, GFAP, NDP, RS1
2macular degeneration, age-related, 129.7BEST1, CST3, RS1
3juvenile retinoschisis11.0
4x-linked juvenile retinoschisis11.0
5retinitis10.9
6retinal detachment10.8
7macular holes10.6
8retinal degeneration10.4
9spiradenoma10.3
10eye degenerative disease10.3
11eye disease10.3
12globe disease10.3
13myopia10.3
14bullous retinoschisis10.3
15retinoschisis of fovea10.3
16coats disease10.3
17retinoschisis autosomal dominant10.3
18flat retinoschisis10.2
19x-linked disease10.2
20lutembacher's syndrome10.2COL2A1, RS1
21cervical serous adenocarcinoma10.2COL2A1, RS1
22enhanced s-cone syndrome10.2
23norrie disease10.2
24neovascular glaucoma10.2
25neuropathy10.2
26villous adenoma10.1NDP, RS1
27choroidal sclerosis10.1NDP, RS1
28papillorenal syndrome10.1
29degenerative disc disease10.1
30choroiditis10.1
31pupil disease10.1
32refractive error10.1
33retinal vascular disease10.1
34uveitis10.1
35viral infectious disease10.1
36goldmann-favre syndrome10.1
37shaken baby syndrome10.1
38otosclerosis10.1CST3, TNC
39cerebral palsy10.1CST3, GFAP
40subacute leukemia10.1GFAP, TNC
41hypopyon ulcer10.0NDP, RS1
42vulva adenocarcinoma10.0GFAP, RS1
43pick disease10.0
44mood disorder10.0
45personality disorder10.0
46x-linked opitz g/bbb syndrome10.0ATP1A3, RS1
47juvenile temporal arteritis10.0ATP1A3, RS1
48peptic ulcer perforation10.0GFAP, TNC
49ametropic amblyopia10.0GFAP, TNC
50kniest dysplasia10.0COL2A1, NDP, RS1

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

HPO human phenotypes related to Retinoschisis:

(show all 13)
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 x-linked dominant inheritance HP:0001423
11 cystic retinal degeneration HP:0007667
12 reduced amplitude of dark-adapted bright flash electroretinogram b-wave HP:0007984
13 retinoschisis HP:0030502

Drugs & Therapeutics for Retinoschisis

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bupivacaineapproved, investigationalPhase 48532180-92-92474
Synonyms:
( inverted exclamation markA)-bupivacaine
(+-)-Bupivacaine
(1)-1-Butyl-N-(2,6-dimethylphenyl)piperidine-2-carboxamide
(RS)-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
Bupivacaine (INN)
Bupivacaine Carbonate
Bupivacaine HCL
Bupivacaine HCL KIT
Bupivacaine Hydrochloride
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
Exparel
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
Racemic bupivacaine
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
Vivacaine
Win 11318
Win 11318 HCl
bupivacaine
cBupivacaine
dl-1-Butyl-2',6'-pipecoloxylidide
2
TriamcinoloneapprovedPhase 4429124-94-731307
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
11beta,16alpha,17alpha,21-Tetrahydroxy-9alpha-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.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-11beta,16alpha,17alpha,21-tetrahydroxypregna-1,4-diene-3,20-dione
9alpha-Fluoro-16alpha-hydroxyprednisolone
9╬▒-fluoro-16╬▒-hydroxyprednisolone
AC-2072
AC1L1LDH
AC1Q5HJC
Adcortyl
Allernaze
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 Acetonide
Triamcinolone [USAN:INN:BAN:JAN]
Triamcinolone acetonide
Triamcinolone diacetate
Triamcinolone hexacetonide
Triamcinolonum
Triamcinolonum [INN]
Trianex
Triatex
Tricortale
Triderm
Triesence
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
3
DorzolamideapprovedPhase 464120279-96-13154, 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)
Dorzolamide Hydrochloride
Dorzolamidum
HMS2089O06
MolPort-005-941-739
Prestwick0_001116
Prestwick1_001116
Prestwick2_001116
Prestwick3_001116
SPBio_003116
STK645522
Trusopt
Trusopt (TN)
dorzolamide
4Triamcinolone hexacetonidePhase 4429
5triamcinolone acetonidePhase 4429
6Triamcinolone diacetatePhase 4429
7
Bevacizumabapproved, investigational1820216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
8
Brinzolamideapproved57138890-62-768844
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
9Diminazene aceturate10

Interventional clinical trials:

(show all 16)
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
6Macular Detachment Associated With Intrachoroidal CavitationCompletedNCT01959724
7Vitrectomy for Optic Disc Pit MaculopathyCompletedNCT01340703
8Ultrastructure Analysis of Excised Internal Limiting Membrane in Eyes of Highly Myopia With Myopic Traction MaculopathyCompletedNCT02528058
9Optical Coherence Tomography Imaging of the Posterior Segment in High Myopia.CompletedNCT00347451
10Clinical and Genetic Studies of X-Linked Juvenile RetinoschisisRecruitingNCT00055029
11OCT-Evaluation of Retinoschisis and Retinal DetachmentRecruitingNCT02682797
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

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:

33
Retina, Eye, Testes

Animal Models for Retinoschisis or affiliated genes

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MGI Mouse Phenotypes related to Retinoschisis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.7BEST1, NDP, RS1
2MP:00053918.3BEST1, COL2A1, GFAP, NDP, RS1
3MP:00036316.9ATP1A3, COL2A1, CST3, GFAP, NDP, RS1

Publications for Retinoschisis

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Articles related to Retinoschisis:

(show top 50)    (show all 531)
idTitleAuthorsYear
1
Resolution of foveal schisis in X-linked retinoschisis in the setting of retinal detachment. (25892045)
2015
2
Characterization of retinal structure and diagnosis of peripheral acquired retinoschisis using high-resolution ultrasound B-scan. (25904297)
2015
3
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
4
Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed withA genetic sequencing. (25999676)
2015
5
Pars plana vitrectomy in patients with myopic macular retinoschisis. (24414402)
2014
6
A long-term follow-up of peripapillary retinoschisis with optic disc hypoplasia. (23150047)
2013
7
Resolution of Mid-Peripheral Schisis in X-Linked Retinoschisis with the Use of Dorzolamide. (23514609)
2013
8
Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis. (25343070)
2012
9
Thirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation. (22171610)
2012
10
Recurrent macular detachment and retinoschisis associated with intrachoroidal cavitation in a normal eye. (22679435)
2012
11
Retinoschisis: a predictive factor in vitrectomy for macular holes without retinal detachment in highly myopic eyes. (21586755)
2012
12
Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene. (22110067)
2011
13
Hemorrhagic Retinoschisis in Shaken Baby Syndrome Imaged with Spectral Domain Optical Coherence Tomography. (20337286)
2010
14
Optical Coherence Tomography Findings in Patients with Degenerative Retinoschisis and Symptomatic Retinal Detachment. (20337329)
2010
15
Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis. (20151283)
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
Ultrasonographic documentation of a spontaneously resolved peripheral senescent retinoschisis. (18982048)
2008
19
Acetazolamide in the treatment of X-linked retinoschisis maculopathy. (17420384)
2007
20
Elevated levels of cystatin C and tenascin-C in schisis cavities of patients with congenital X-linked retinoschisis. (18040250)
2007
21
Vitrectomy for myopic posterior retinoschisis or foveal detachment. (16453188)
2006
22
Fundus findings and longitudinal study of visual acuity loss in patients with X-linked retinoschisis. (16077359)
2005
23
Retinal changes in juvenile X linked retinoschisis using three dimensional optical coherence tomography. (16299154)
2005
24
Neovascular glaucoma in a patient with X-linked juvenile retinoschisis. (17162850)
2005
25
Optical coherence tomography findings in familiar foveal retinoschisis. (15183819)
2004
26
Optical coherence tomography in the diagnosis of juvenile X-linked retinoschisis. (15043546)
2004
27
Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. (15531314)
2004
28
Consanguineous marriage resulting in homozygous occurrence of X-linked retinoschisis in girls. (14516833)
2003
29
Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis. (12383832)
2002
30
Foveal ectopia in X-linked retinoschisis. (11508883)
2001
31
Axial length and refractive error in X-linked retinoschisis. (11384589)
2001
32
Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene. (11594966)
2001
33
Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. (10450864)
1999
34
Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene. (10051329)
1999
35
Surgical management of retinoschisis. (10168899)
1997
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
The management of retinal detachment complicating degenerative retinoschisis. (2913811)
1989
40
Traumatic retinoschisis in battered babies. (3725321)
1986
41
Long-term natural history study of senile retinoschisis with implications for management. (3808625)
1986
42
Retinal hamartoma, acquired retinoschisis, and retinal hole. (4003506)
1985
43
Congenital hereditary retinoschisis: evolution at the initial stage. (6915726)
1981
44
Familial foveal retinoschisis associated with a rod-cone dystrophy. (306756)
1978
45
The natural history of senile retinoschisis. (960371)
1976
46
Retinoschisis. (1230226)
1975
47
Senile retinoschisis. Relationship to cystoid degeneration. (5434997)
1970
48
Cryosurgery in the treatment of retinoschisis and retinal detachment. (5797486)
1969
49
HEREDITARY RETINOSCHISIS WITH RETINAL DETACHMENT. (14137967)
1964
50
Central retinoschisis. A case developed after central vein thrombosis. (14480367)
1961

Variations for Retinoschisis

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UniProtKB/Swiss-Prot genetic disease variations for Retinoschisis:

67 (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 pathways (with members indented)ScoreTop Affiliating Genes
19.5ATP1A3, COL2A1

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
1cell projectionGO:00429959.4CST3, GFAP
2extracellular matrixGO:00310128.8COL2A1, NDP, TNC
3basement membraneGO:00056048.5COL2A1, CST3, TNC
4extracellular spaceGO:00056157.9COL2A1, CST3, NDP, RS1, TNC

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

idNameGO IDScoreTop Affiliating Genes
1response to woundingGO:00096119.8GFAP, TNC
2visual perceptionGO:00076019.0BEST1, COL2A1, NDP, RS1
3extracellular matrix organizationGO:00301988.9COL2A1, GFAP, TNC

Sources for Retinoschisis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet