MCID: RTN025
MIFTS: 59

Retinoschisis malady

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

Aliases & Classifications for Retinoschisis

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Aliases & Descriptions for Retinoschisis:

Name: Retinoschisis 52 11 12 39 13 68
X-Linked Juvenile Retinoschisis 11 23 48 24 25 54
Juvenile Retinoschisis 23 48 24 25 27 50
X-Linked Retinoschisis 11 23 48 24 25 54
Retinoschisis 1, X-Linked, Juvenile 52 68
Xlrs 11 54
Xjr 48 25
Retinoschisis Juvenile X Chromosome-Linked 48
Congenital X-Linked Retinoschisis 25
 
Retinoschisis, Juvenile, X-Linked 68
X-Linked Juvenile Retinoschisis 1 11
Retinoschisis Juvenile X-Linked 1 70
Retinoschisis, Degenerative 68
Degenerative Retinoschisis 25
Retinoschisis X-Linked 48
Xlrs1 70
Rs1 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
retinoschisis:
Inheritance: x-linked dominant inheritance

GeneReviews:

23
Penetrance: x-linked juvenile retinoschisis exhibits complete penetrance with variable expressivity. ...


Classifications:



External Ids:

OMIM52 312700
Disease Ontology11 DOID:0060763, DOID:8465
ICD1030 Q14.1, H33.10
ICD9CM32 361.10
MeSH39 D041441
NCIt45 C85046
Orphanet54 ORPHA792
ICD10 via Orphanet31 Q14.1

Summaries for Retinoschisis

About this section
NIH Rare Diseases:48 Juvenile retinoschisis is an eye condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. The condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. This affects the sharpness of vision. Central vision is more commonly affected. Vision often deteriorates early in life, but then usually becomes stable until late adulthood. A second decline in vision typically occurs in a man's fifties or sixties. Sometimes severe complications occur, including separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These can lead to blindness. Juvenile retinoschisis is caused by mutations in the RS1 gene. It is inherited in an X-linked recessive pattern. Low-vision aids can be helpful. Surgery may be needed for some complications. Last updated: 2/27/2016

MalaCards based summary: Retinoschisis, also known as x-linked juvenile retinoschisis, is related to bullous retinoschisis and retinoschisis of fovea, 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 Articular Cartilage Extracellular Matrix Pathway. Affiliated tissues include retina, eye and testes, and related mouse phenotypes are pigmentation and nervous system.

Disease Ontology:11 A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has material basis in the RS1 gene on chromosome Xp22.

UniProtKB/Swiss-Prot:70 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.

Genetics Home Reference:25 X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual acuity) in both eyes. Typically, X-linked juvenile retinoschisis affects cells in the central area of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. X-linked juvenile retinoschisis is one type of a broader disorder called macular degeneration, which disrupts the normal functioning of the macula. Occasionally, side (peripheral) vision is affected in people with X-linked juvenile retinoschisis.

OMIM:52 X-linked retinoschisis (XLRS) is a retinal dystrophy that leads to schisis (splitting) of the neural retina leading to... (312700) more...

Wikipedia:71 Retinoschisis is an eye disease characterized by the abnormal splitting of the retina\'s neurosensory... more...

GeneReviews for NBK1222

Related Diseases for Retinoschisis

About this section

Diseases in the Retinoschisis family:

Retinoschisis Autosomal Dominant

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

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1bullous retinoschisis12.0
2retinoschisis of fovea11.9
3retinoschisis autosomal dominant11.8
4flat retinoschisis11.8
5enhanced s-cone syndrome11.1
6goldmann-favre syndrome11.1
7cavitary optic disc anomalies10.9
8reye syndrome10.8
9retinitis10.6
10retinal detachment10.5
11pediatric extraocular retinoblastoma10.3NDP, RS1
12retinal dystrophy in systemic or cerebroretinal lipidoses10.3COL2A1, RS1
13arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.3NDP, RS1
14macular holes10.3
15kallmann syndrome 310.3ATP1A3, RS1
16x-linked protoporphyria10.2ATP1A3, RS1
17tuberculous peritonitis10.2COL2A1, NDP
18regular astigmatism10.2NDP, RS1
19senile reticular retinal degeneration10.1BEST1, COL2A1
20tibial collateral ligament bursitis10.1MFRP, RS1
21cauda equina neoplasm10.1COL2A1, GFAP
22leukodystrophy, hypomyelinating, 510.1BEST1, MFRP
23achondrogenesis, type ii or hypochondrogenesis10.0COL2A1, NDP, RS1
24myopia10.0
25ovarian embryonal carcinoma10.0BEST1, NDP, RS1
26vitreous abscess10.0GFAP, RS1
27norrie disease9.8
28choroiditis9.8
29neovascular glaucoma9.8
30pilocytic astrocytoma of cerebellum9.8COL2A1, GFAP
31coats disease9.7
32pars planitis9.7
33uveitis9.7
34neuropathy9.7
35shaken baby syndrome9.7
36aplastic anemia9.6
37papillorenal syndrome9.6
38fundus albipunctatus9.6
39alport syndrome9.6
40retinitis pigmentosa9.6
41congenital stationary night blindness9.6
42fetal alcohol syndrome9.6
43cone dystrophy9.6
44persistent hyperplastic primary vitreous9.6
45stickler syndrome9.6
46amblyopia9.6
47microcephaly9.6
48intermediate uveitis9.6
49retinal telangiectasia9.6
50retinal degeneration9.6

Graphical network of the top 20 diseases related to Retinoschisis:



Diseases related to retinoschisis

Symptoms & Phenotypes for Retinoschisis

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Symptoms by clinical synopsis from OMIM:

312700

Clinical features from OMIM:

312700

Human phenotypes related to Retinoschisis:

 64 54 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of eye movement64 54 hallmark (90%) Very frequent (99-80%) HP:0000496
2 glaucoma64 54 hallmark (90%) Very frequent (99-80%) HP:0000501
3 abnormal electroretinogram64 54 hallmark (90%) Very frequent (99-80%) HP:0000512
4 cataract64 54 hallmark (90%) Very frequent (99-80%) HP:0000518
5 chorioretinal coloboma64 hallmark (90%) HP:0000567
6 progressive visual loss64 HP:0000529
7 chorioretinal atrophy64 HP:0000533
8 retinal detachment64 HP:0000541
9 retinal atrophy64 HP:0001105
10 cystic retinal degeneration64 HP:0007667
11 reduced amplitude of dark-adapted bright flash electroretinogram b-wave64 HP:0007984
12 retinoschisis64 54 Very frequent (99-80%) HP:0030502
13 abnormality of the eye54 Very frequent (99-80%)
14 abnormality of vision54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Retinoschisis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.6BEST1, MFRP, NDP, RS1
2MP:00036318.4ATP1A3, COL2A1, GFAP, MFRP, NDP, RS1
3MP:00053917.2BEST1, COL2A1, DCN, GFAP, MFRP, NDP

Drugs & Therapeutics for Retinoschisis

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

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DorzolamideapprovedPhase 467120279-96-13154, 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
2
Triamcinoloneapproved, vet_approvedPhase 4482124-94-731307
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
3
Bupivacaineapproved, investigationalPhase 411312180-92-9, 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
4Antihypertensive AgentsPhase 44095
5Carbonic Anhydrase InhibitorsPhase 4179
6Immunosuppressive AgentsPhase 412770
7Peripheral Nervous System AgentsPhase 422776
8Triamcinolone diacetatePhase 4482
9Triamcinolone hexacetonidePhase 4482
10triamcinolone acetonidePhase 4482
11Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 412767
12HormonesPhase 413979
13AnestheticsPhase 49001
14Anti-Inflammatory AgentsPhase 410355
15Anesthetics, LocalPhase 43272
16Central Nervous System DepressantsPhase 412806
17Hormone AntagonistsPhase 412778
18glucocorticoidsPhase 44920
19
Bevacizumabapproved, investigational1968216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
20
Brinzolamideapproved60138890-62-768844
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
21Diminazene aceturate10
22Angiogenesis Inhibitors4143
23Angiogenesis Modulating Agents4072

Interventional clinical trials:

(show all 18)
idNameStatusNCT IDPhase
1Treatment of Cystoid Macular Edema in Patients With Retinal DegenerationUnknown statusNCT00716586Phase 4
2Postoperative Pain Control Following Vitreoretinal SurgeryCompletedNCT01995045Phase 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 Tractional Retinoschisis in Proliferative Diabetic RetinopathyUnknown statusNCT01312207
6Triple Therapy for Diffuse Diabetic Macular EdemaUnknown statusNCT01218750
7Clinical Evaluation of Patients With X-linked RetinoschisisCompletedNCT02331173
8Optical Coherence Tomography Evaluation of Retinoschisis and Retinal DetachmentCompletedNCT02682797
9Macular Retinoschisis and Detachment Associated With Glaucomatous Optic NeuropathyCompletedNCT01862627
10Macular Detachment Associated With Intrachoroidal CavitationCompletedNCT01959724
11Ultrastructure Analysis of Excised Internal Limiting Membrane in Eyes of Highly Myopia With Myopic Traction MaculopathyCompletedNCT02528058
12Optical Coherence Tomography Imaging of the Posterior Segment in High Myopia.CompletedNCT00347451
13Vitrectomy for Optic Disc Pit MaculopathyCompletedNCT01340703
14Clinical and Genetic Studies of X-Linked Juvenile RetinoschisisRecruitingNCT00055029
15Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
16Effects of Macular Buckle Versus Vitrectomy on Macular Schisis and Macular Detachment in Highly Myopic EyesActive, not recruitingNCT03023800
17People s Expectations When Enrolling in a Phase I/II RS1 Ocular Gene Transfer Clinical TrialEnrolling by invitationNCT02317354
18Pneumatic 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

About this section

Genetic tests related to Retinoschisis:

id Genetic test Affiliating Genes
1 Juvenile Retinoschisis27
2 X-Linked Juvenile Retinoschisis24 RS1

Anatomical Context for Retinoschisis

About this section

MalaCards organs/tissues related to Retinoschisis:

36
Retina, Eye, Testes

Publications for Retinoschisis

About this section

Articles related to Retinoschisis:

(show top 50)    (show all 584)
idTitleAuthorsYear
1
UNUSUAL CASE OF STELLATE NONHEREDITARY IDIOPATHIC FOVEOMACULAR RETINOSCHISIS. (27711004)
2017
2
COMPLICATED CONGENITAL RETINOSCHISIS. (27680778)
2017
3
SURGICAL MANAGEMENT OF TRACTIONAL RETINOSCHISIS ASSOCIATED WITH VITREOUS HEMORRHAGE IN RETINOPATHY OF PREMATURITY. (28092313)
2017
4
Retinal Detachment in a Combined Case of Stickler Syndrome and X-Linked Retinoschisis. (28060400)
2017
5
Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis. (27997221)
2016
6
Retinoschisis and neurosensory detachment in advanced focal glaucoma. (27887794)
2016
7
Unilateral giant peripapillary drusen and retinal drusenoid deposits in a case of X-linked retinoschisis. (26907824)
2016
8
Stellate nonhereditary idiopathic foveomacular retinoschisis concomitant to exudative maculopathies. (26915743)
2016
9
CLINICAL CHARACTERISTICS OF IDIOPATHIC FOVEOMACULAR RETINOSCHISIS. (26756808)
2016
10
VITRECTOMY FOR MACULAR RETINOSCHISIS WITHOUT A DETECTABLE OPTIC DISK PIT. (27508506)
2016
11
Severe Retinal Hemorrhages with Retinoschisis in Infants are Not Pathognomonic for Abusive Head Trauma. (27982430)
2016
12
SD-OCT AND MICROPERIMETRIC CORRELATED CHANGES IN PROGRESSIVE X-LINKED RETINOSCHISIS AFTER VITRECTOMY: A CASE REPORT. (27798534)
2016
13
Alterations of the Lamina Cribrosa Are Associated with Peripapillary Retinoschisis in Glaucoma and Pachychoroid Spectrum Disease. (27506483)
2016
14
Preclinical Dose-Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function. (27036983)
2016
15
Primary retinoschisis with vascular changes mimicking neovascularization, illustrated with multimodal imaging. (27521502)
2016
16
Carbonic Anhydrase Inhibitors for the Treatment of Cystic Macular Lesions in Children With X-Linked Juvenile Retinoschisis. (27699410)
2016
17
Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family. (27932860)
2016
18
Juvenile X-Linked Retinoschisis: A Comparison of Imaging Modalities and Review of Angiographic Findings. (27164547)
2016
19
An ex vivo gene therapy approach in X-linked retinoschisis. (27390514)
2016
20
Corrigendum: X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family. (26960251)
2016
21
En Face Optical Coherence Tomography of Bilateral Myopic Macular Retinoschisis. (26900742)
2016
22
Myopic Macular Retinoschisis in Teenagers: Clinical Characteristics and Spectral Domain Optical Coherence Tomography Findings. (27294332)
2016
23
WIDE-FIELD INFRARED IMAGING: A Descriptive Review of Characteristics of Retinoschisis, Retinal Detachment, and Schisis Detachments. (26807632)
2016
24
The efficacy and safety of posterior scleral reinforcement using genipin cross-linked sclera for macular detachment and retinoschisis in highly myopic eyes. (26917677)
2016
25
Abnormal 8-Hz flicker electroretinograms in carriers of X-linked retinoschisis. (27369766)
2016
26
X-Linked retinoschisis associated to a novel intragenic microdeletion: case report. (26791414)
2016
27
Cog-Wheel Octameric Structure of RS1, the Discoidin Domain Containing Retinal Protein Associated with X-Linked Retinoschisis. (26812435)
2016
28
Ocular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice. (27626041)
2016
29
Lamellar macular hole in X linked retinoschisis. (27170611)
2016
30
SURGICAL TREATMENT OF A MACULAR HOLE IN X-LINKED RETINOSCHISIS. (27203560)
2016
31
VISUAL ACUITY OUTCOMES OF RANIBIZUMAB TREATMENT IN PATHOLOGIC MYOPIC EYES WITH MACULAR RETINOSCHISIS AND CHOROIDAL NEOVASCULARIZATION. (27533774)
2016
32
Optical coherence tomography of outer retinal holes in senile retinoschisis and schisis-detachment. (27343208)
2016
33
Peripapillary Retinoschisis in Glaucoma Patients. (27069674)
2016
34
Different foveal schisis patterns in each retinal layer in eyes with hereditary juvenile retinoschisis evaluated by en-face optical coherence tomography. (27853955)
2016
35
X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family. (26823236)
2016
36
The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina. (27995734)
2016
37
Widefield OCT Findings of a Patient With Stellate Nonhereditary Idiopathic Foveomacular Retinoschisis. (27548456)
2016
38
Spontaneous Resolution of Large Macular Retinoschisis in Enhanced S-Cone Syndrome. (26878455)
2016
39
Comments on temporary resolution of foveal schisis following vitrectomy with silicon oil tamponade in X-linked retinoschisis with retinal detachment. (27146945)
2016
40
Structure/Psychophysical Relationships in X-Linked Retinoschisis. (26830370)
2016
41
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis. (27258436)
2016
42
Dramatic regression of macular and peripheral retinoschisis with dorzolamide 2 % in X-linked retinoschisis: a case report. (27246168)
2016
43
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function. (27798099)
2016
44
Retinoschisis in Pars Planitis. (26902143)
2016
45
Phenotypic characterization of X-linked retinoschisis: Clinical, electroretinography, and optical coherence tomography variables. (27609164)
2016
46
Peripapillary retinoschisis and serous retinal elevation secondary to steroid-induced glaucoma. (27521684)
2016
47
STRUCTURAL AND FUNCTIONAL MONITORING OF EXTRAMACULAR CYSTOID SPACES IN A CASE OF X-LINKED RETINOSCHISIS TREATED WITH ACETAZOLAMIDE. (27984356)
2016
48
USE OF A CARBONIC ANHYDRASE INHIBITOR IN X-LINKED RETINOSCHISIS: Effect on Cystic-Appearing Macular Lesions and Visual Acuity. (27828908)
2016
49
Resolution of foveal schisis in X-linked retinoschisis in the setting of retinal detachment. (25892045)
2015
50
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

Variations for Retinoschisis

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UniProtKB/Swiss-Prot genetic disease variations for Retinoschisis:

70 (show all 64)
id Symbol AA change Variation ID SNP ID
1RS1p.Glu72AspVAR_008180rs104894932
2RS1p.Glu72LysVAR_008181rs104894928
3RS1p.Gly74ValVAR_008182rs104894933
4RS1p.Trp96ArgVAR_008183rs61752063
5RS1p.Arg102TrpVAR_008184rs61752067
6RS1p.Gly109ArgVAR_008185rs104894934
7RS1p.Leu12HisVAR_008209rs62645879
8RS1p.Leu13ProVAR_008210rs104894935
9RS1p.Cys59SerVAR_008211rs62645889
10RS1p.Tyr65CysVAR_008212rs62645892
11RS1p.Gly70AlaVAR_008213
12RS1p.Gly70SerVAR_008214
13RS1p.Tyr89CysVAR_008215rs61752060
14RS1p.Ala98GluVAR_008216rs61752065
15RS1p.Arg102GlnVAR_008217rs61752068
16RS1p.Leu103ArgVAR_008218rs61752069
17RS1p.Phe108CysVAR_008219rs61752072
18RS1p.Gly109GluVAR_008220rs281865345
19RS1p.Gly109TrpVAR_008221rs104894934
20RS1p.Cys110TyrVAR_008222rs61752075
21RS1p.Trp112CysVAR_008223rs61752144
22RS1p.Leu113PheVAR_008224rs61752145
23RS1p.Leu127ProVAR_008225rs61752149
24RS1p.Gly135ValVAR_008226rs61752152
25RS1p.Ile136ThrVAR_008227rs61752153
26RS1p.Thr138AlaVAR_008228rs61752154
27RS1p.Gly140GluVAR_008229rs61752157
28RS1p.Gly140ArgVAR_008230rs61752156
29RS1p.Arg141CysVAR_008231rs61752158
30RS1p.Arg141GlyVAR_008232rs61752158
31RS1p.Arg141HisVAR_008233rs61752159
32RS1p.Cys142TrpVAR_008234rs1800001
33RS1p.Asp143ValVAR_008235rs61753161
34RS1p.Glu146AspVAR_008236rs61753163
35RS1p.Glu146LysVAR_008237rs61753162
36RS1p.Tyr155CysVAR_008238rs61753165
37RS1p.Trp163CysVAR_008240rs61753166
38RS1p.Gly178AspVAR_008241rs61753169
39RS1p.Arg182CysVAR_008242rs61753171
40RS1p.Pro192ArgVAR_008243rs61753175
41RS1p.Pro192SerVAR_008244rs61753174
42RS1p.Pro193LeuVAR_008245rs281865352
43RS1p.Pro193SerVAR_008246rs281865351
44RS1p.Arg197CysVAR_008247rs281865354
45RS1p.Arg197HisVAR_008248rs281865355
46RS1p.Ile199ThrVAR_008249rs281865356
47RS1p.Arg200CysVAR_008251rs281865357
48RS1p.Arg200HisVAR_008252rs281865358
49RS1p.Pro203LeuVAR_008253rs104894930
50RS1p.His207GlnVAR_008254rs281865360
51RS1p.Arg209HisVAR_008255rs281865362
52RS1p.Arg213TrpVAR_008256rs281865365
53RS1p.Glu215LysVAR_008257rs281865367
54RS1p.Glu215GlnVAR_008258rs281865367
55RS1p.Leu216ProVAR_008259rs281865368
56RS1p.Cys219GlyVAR_008260rs281865369
57RS1p.Cys219ArgVAR_008261rs281865369
58RS1p.Cys223ArgVAR_008262rs104894929
59RS1p.Ser73ProVAR_065326rs62645899
60RS1p.Asp145HisVAR_065327
61RS1p.Arg156GlyVAR_065328
62RS1p.Pro192LeuVAR_065329
63RS1p.Arg209CysVAR_065330rs281865361
64RS1p.Arg213GlnVAR_065331rs281865364

Clinvar genetic disease variations for Retinoschisis:

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1RS1NM_000330.3: c.498C> ASNVLikely pathogenicChr na, -1: -1
2RS1NM_000330.3: c.673T> CSNVLikely pathogenicChr na, -1: -1
3RS1NM_000330.3(RS1): c.286T> C (p.Trp96Arg)SNVPathogenicrs61752063GRCh37Chr X, 18665351: 18665351
4RS1NM_000330.3(RS1): c.304C> T (p.Arg102Trp)SNVPathogenicrs61752067GRCh37Chr X, 18665333: 18665333
5RS1NM_000330.3(RS1): c.214G> A (p.Glu72Lys)SNVPathogenicrs104894928GRCh37Chr X, 18665423: 18665423
6RS1NM_000330.3(RS1): c.216G> C (p.Glu72Asp)SNVPathogenicrs104894932GRCh37Chr X, 18665421: 18665421
7RS1NM_000330.3(RS1): c.221G> T (p.Gly74Val)SNVPathogenicrs104894933GRCh37Chr X, 18665416: 18665416
8RS1NM_000330.3(RS1): c.325G> C (p.Gly109Arg)SNVPathogenicrs104894934GRCh37Chr X, 18665312: 18665312
9RS1NM_000330.3(RS1): c.38T> C (p.Leu13Pro)SNVPathogenicrs104894935GRCh37Chr X, 18690151: 18690151
10RS1NM_000330.3(RS1): c.266A> G (p.Tyr89Cys)SNVLikely pathogenicrs61752060GRCh37Chr X, 18665371: 18665371
11RS1NM_000330.3(RS1): c.667T> C (p.Cys223Arg)SNVPathogenicrs104894929GRCh37Chr X, 18660132: 18660132
12RS1RS1, 4-BP INSinsertionPathogenicChr na, -1: -1
13RS1NM_000330.3(RS1): c.608C> T (p.Pro203Leu)SNVPathogenicrs104894930GRCh37Chr X, 18660191: 18660191
14RS1NM_000330.3(RS1): c.305G> A (p.Arg102Gln)SNVPathogenicrs61752068GRCh37Chr X, 18665332: 18665332
15RS1NM_000330.3(RS1): c.422G> A (p.Arg141His)SNVLikely pathogenicrs61752159GRCh37Chr X, 18662650: 18662650
16RS1NM_000330.3(RS1): c.522+1G> ASNVLikely pathogenicrs281865348GRCh37Chr X, 18662549: 18662549
17RS1NM_000330.3(RS1): c.574C> T (p.Pro192Ser)SNVLikely pathogenicrs61753174GRCh37Chr X, 18660225: 18660225
18RS1NM_000330.3(RS1): c.590G> A (p.Arg197His)SNVLikely pathogenicrs281865355GRCh37Chr X, 18660209: 18660209
19RS1NM_000330.3(RS1): c.625C> T (p.Arg209Cys)SNVLikely pathogenicrs281865361GRCh37Chr X, 18660174: 18660174

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
19.6ATP1A3, COL2A1
29.6COL2A1, DCN
3
Show member pathways
9.0COL2A1, DCN, MMP19

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
1extracellular matrixGO:00310129.9COL2A1, DCN, NDP
2proteinaceous extracellular matrixGO:00055789.0COL2A1, DCN, MMP19

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

idNameGO IDScoreTop Affiliating Genes
1placenta developmentGO:000189010.2DCN, NDP
2collagen catabolic processGO:003057410.1COL2A1, MMP19
3extracellular matrix disassemblyGO:002261710.0DCN, MMP19
4extracellular matrix organizationGO:00301989.4COL2A1, DCN, GFAP
5visual perceptionGO:00076018.5BEST1, COL2A1, MFRP, NDP, RS1

Sources for Retinoschisis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet