RS1
MCID: RTN209
MIFTS: 62

Retinoschisis 1, X-Linked, Juvenile (RS1)

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

Aliases & Classifications for Retinoschisis 1, X-Linked, Juvenile

MalaCards integrated aliases for Retinoschisis 1, X-Linked, Juvenile:

Name: Retinoschisis 1, X-Linked, Juvenile 56 71
Retinoschisis 56 12 74 29 13 6 43 15 71
Juvenile Retinoschisis 24 52 25 36 29 54 6
X-Linked Juvenile Retinoschisis 12 24 52 25 58
X-Linked Retinoschisis 12 24 52 25 58
X-Linked Juvenile Retinoschisis 1 12 15
Xlrs1 56 73
Xlrs 12 58
Rs1 56 73
Xjr 52 25
Retinoschisis Juvenile X Chromosome-Linked 52
Congenital X-Linked Retinoschisis 25
Retinoschisis Juvenile X-Linked 1 73
Retinoschisis, Juvenile, X-Linked 71
Retinoschisis, Degenerative 71
Degenerative Retinoschisis 25
Retinoschisis, X-Linked 74
Retinoschisis X-Linked 52
Rs 56

Characteristics:

Orphanet epidemiological data:

58
x-linked retinoschisis
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
may not be clinically manifest until middle life
some affected females have been reported


HPO:

31
retinoschisis 1, x-linked, juvenile:
Inheritance x-linked dominant inheritance x-linked recessive inheritance


GeneReviews:

24
Penetrance X-linked juvenile retinoschisis exhibits complete penetrance with variable expressivity.

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060763 DOID:8465
OMIM 56 312700
KEGG 36 H01766
ICD9CM 34 361.10
MeSH 43 D041441
NCIt 49 C85046
SNOMED-CT 67 44268007
ICD10 32 H33.10 Q14.1
ICD10 via Orphanet 33 Q14.1
UMLS via Orphanet 72 C0271091
Orphanet 58 ORPHA792
UMLS 71 C0152439 C0271091 C1137478 more

Summaries for Retinoschisis 1, X-Linked, Juvenile

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. X-linked juvenile retinoschisis is usually diagnosed when affected boys start school and poor vision and difficulty with reading become apparent. In more severe cases, eye squinting and involuntary movement of the eyes (nystagmus) begin in infancy. Other early features of X-linked juvenile retinoschisis include eyes that do not look in the same direction (strabismus) and farsightedness (hyperopia). Visual acuity often declines in childhood and adolescence but then stabilizes throughout adulthood until a significant decline in visual acuity typically occurs in a man's fifties or sixties. Sometimes, severe complications develop, such as separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These eye abnormalities can further impair vision or cause blindness.

MalaCards based summary : Retinoschisis 1, X-Linked, Juvenile, also known as retinoschisis, is related to vitreoretinal dystrophy and oguchi disease. An important gene associated with Retinoschisis 1, X-Linked, Juvenile is RS1 (Retinoschisin 1), and among its related pathways/superpathways are cAMP signaling pathway and Metabolism of fat-soluble vitamins. The drugs Dorzolamide and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related phenotypes are cataract and abnormal electroretinogram

NIH Rare Diseases : 52 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.

OMIM : 56 X-linked retinoschisis (XLRS) is a retinal dystrophy that leads to schisis (splitting) of the neural retina leading to reduced visual acuity in affected men. The condition accounts for almost all congenital retinoschisis, with occasional reports of autosomal dominant retinoschisis (see 180270) making up the remainder. The split in the retina occurs predominantly within the inner retinal layers and is very different from retinal detachment, which is a split between the neural retina and the retinal pigment epithelium. In general, carrier females remain asymptomatic (summary by Sikkink et al., 2007). (312700)

KEGG : 36 Juvenile retinoschisis is an early-onset X-linked retinal disease caused by mutations in retinoschisin (RS1), extracellular protein implicated in retinal cell adhesion. This disease is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration. Affected persons typically display cystic streaks projecting from the parafoveal region of the retina, and a reduction in the b-wave amplitude of the full-field electroretinogram (ERG). Optical coherence tomography (OCT) further reveals a splitting of the outer plexiform and adjacent retinal layers.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Retinoschisis is an eye disease characterized by the abnormal splitting of the retina's neurosensory... more...

GeneReviews: NBK1222

Related Diseases for Retinoschisis 1, X-Linked, Juvenile

Diseases related to Retinoschisis 1, X-Linked, Juvenile via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 562)
# Related Disease Score Top Affiliating Genes
1 vitreoretinal dystrophy 32.8 RS1 NR2E3
2 oguchi disease 32.5 RHO NYX GRK1 CACNA1F
3 coats disease 32.2 RS1 RHO CRB1
4 retinal perforation 32.0 RS1 RPE65
5 choroidal dystrophy, central areolar, 1 31.9 RS1 RPE65 CRX ABCA4
6 bullous retinoschisis 31.8 SARM1 RS1 RGS11 PRDX6
7 enhanced s-cone syndrome 31.8 RPGR RPE65 RHO NR2E3 GRK1 CRX
8 macular dystrophy, dominant cystoid 31.4 RS1 RPE65 NR2E3 CRB1 BEST1 ABCA4
9 macular retinal edema 30.9 RHO CRB1 BEST1
10 myopia 30.6 RPGR RHO NYX GRK1 CNGB3 CACNA1F
11 hereditary retinal dystrophy 30.6 RS1 RPE65 RHO MERTK CRX CRB1
12 peripheral retinal degeneration 30.5 RPGR RHO ABCA4
13 night blindness, congenital stationary, type 1e 30.4 NYX CACNA1F
14 bietti crystalline corneoretinal dystrophy 30.4 RPGR RPE65 ABCA4
15 inherited retinal disorder 30.2 RS1 RPGR RPE65 RHO NYX NR2E3
16 retinal degeneration 30.1 RS1 RPGR RPE65 RHO NR2E3 MERTK
17 macular degeneration, age-related, 1 30.0 RS1 RPGR RPE65 RHO NR2E3 MERTK
18 scotoma 30.0 RPGR RPE65 RHO CRB1 CNGB3 CNGA3
19 fundus albipunctatus 30.0 RS1 RPGR RPE65 RHO NR2E3 GRK1
20 choroid disease 30.0 RS1 RPGR RPE65 RHO MERTK CNGB3
21 yemenite deaf-blind hypopigmentation syndrome 30.0 RPGR RPE65 RHO CRB1 CHM ABCA4
22 retinal disease 29.9 ABCA4 RS1 RPGR RPE65 RHO NYX
23 usher syndrome, type i 29.9 RPGR RPE65 RHO CRX
24 nanophthalmos 29.9 RPE65 RHO CRB1 BEST1
25 eye disease 29.9 RS1 RPGR RPE65 RHO NR2E3 CRX
26 usher syndrome 29.9 RPGR RPE65 RHO CRX CRB1 ABCA4
27 retinitis 29.7 RPGR RPE65 RHO MERTK CRB1 ABCA4
28 color blindness 29.6 RPGR RPE65 RHO CRX CNGB3 CNGA3
29 eye degenerative disease 29.3 RS1 RPGR RPE65 RHO NR2E3 MERTK
30 fundus dystrophy 29.2 RS1 RPGR RPE65 RHO NYX NR2E3
31 cone dystrophy 29.1 RPGR RPE65 RHO MERTK CNGB3 CNGA3
32 choroideremia 29.1 RPGR RPE65 RHO MERTK CNGB3 CNGA3
33 night blindness 29.1 RPGR RPE65 RHO NYX NR2E3 GRK1
34 stargardt disease 28.9 RS1 RPGR RPE65 RHO NR2E3 MERTK
35 pathologic nystagmus 28.8 RPGR RPE65 RHO NYX CRX CRB1
36 retinitis pigmentosa 28.8 RS1 RPGR RPE65 RHO NYX NR2E3
37 congenital stationary night blindness 28.7 RS1 RPGR RPE65 RHO RGS11 NYX
38 leber plus disease 28.7 RS1 RPGR RPE65 RHO NR2E3 MERTK
39 achromatopsia 28.4 RS1 RPGR RPE65 RHO NYX NR2E3
40 retinoschisis, autosomal dominant 12.4
41 flat retinoschisis 12.4
42 severe combined immunodeficiency with sensitivity to ionizing radiation 12.0
43 retinal detachment 11.7
44 lymphoma, hodgkin, classic 11.6
45 reye syndrome 11.6
46 myelodysplastic syndrome 11.5
47 richter's syndrome 11.5
48 myelodysplastic/myeloproliferative neoplasm 11.5
49 raynaud disease 11.5
50 robinow syndrome 11.5

Graphical network of the top 20 diseases related to Retinoschisis 1, X-Linked, Juvenile:



Diseases related to Retinoschisis 1, X-Linked, Juvenile

Symptoms & Phenotypes for Retinoschisis 1, X-Linked, Juvenile

Human phenotypes related to Retinoschisis 1, X-Linked, Juvenile:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
3 glaucoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000501
4 abnormality of eye movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0000496
5 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
6 retinoschisis 58 31 hallmark (90%) Very frequent (99-80%) HP:0030502
7 macular atrophy 31 frequent (33%) HP:0007401
8 retinal pigment epithelial atrophy 31 frequent (33%) HP:0007722
9 retinal detachment 31 very rare (1%) HP:0000541
10 vitreous hemorrhage 31 very rare (1%) HP:0007902
11 mizuo phenomenon 31 very rare (1%) HP:0030824
12 progressive visual loss 31 HP:0000529
13 abnormality of the eye 58 Very frequent (99-80%)
14 hypermetropia 31 HP:0000540
15 retinal atrophy 31 HP:0001105
16 electronegative electroretinogram 31 HP:0007984
17 peripheral cystoid retinal degeneration 31 HP:0007667

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
retinal detachment
retinoschisis
retinal degeneration
retinal atrophy
choroidal sclerosis
more

Clinical features from OMIM:

312700

GenomeRNAi Phenotypes related to Retinoschisis 1, X-Linked, Juvenile according to GeneCards Suite gene sharing:

26 (show all 47)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 10.22 CACNA1F
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.22 CACNA1F CNGB3 GRK1 RPGR
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 10.22 CNGB3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.22 CACNA1F CNGB3 GRK1 RPGR
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 10.22 CNGB3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.22 CACNA1F CNGB3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10.22 GRK1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-32 10.22 GRK1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.22 CACNA1F CNGB3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.22 CNGB3 GRK1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.22 CNGB3 RPGR
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 10.22 CNGB3 RPGR
13 Decreased viability GR00055-A-1 9.98 MERTK
14 Decreased viability GR00055-A-2 9.98 MERTK
15 Decreased viability GR00221-A-1 9.98 GRK1 MERTK
16 Decreased viability GR00221-A-4 9.98 MERTK
17 Decreased viability GR00249-S 9.98 CRX PRDX6
18 Decreased viability GR00301-A 9.98 GRK1
19 Decreased viability GR00342-S-1 9.98 GRK1
20 Decreased viability GR00342-S-2 9.98 GRK1
21 Decreased viability GR00381-A-1 9.98 NYX
22 Decreased viability GR00381-A-2 9.98 NYX
23 Decreased viability GR00381-A-3 9.98 NYX
24 Decreased viability GR00386-A-1 9.98 CRX RGS11
25 Decreased viability GR00402-S-2 9.98 BEST1 GRK1 NYX RGS11 RHO SARM1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.72 CACNA1F RPGR
27 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.72 CACNA1F
28 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.72 GRK1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.72 GRK1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.72 RPGR
31 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.72 GRK1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-167 9.72 CNGB3
33 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.72 RPGR
34 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.72 CACNA1F
35 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.72 MERTK
36 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.72 CNGB3
37 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.72 RPGR
38 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.72 MERTK
39 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.72 CACNA1F
40 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.72 RPGR
41 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.72 RPGR
42 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.72 CACNA1F RPGR
43 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.72 GRK1
44 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.72 CACNA1F
45 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.72 CACNA1F
46 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 GRK1 MERTK
47 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.72 CNGB3

MGI Mouse Phenotypes related to Retinoschisis 1, X-Linked, Juvenile:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 ABCA4 ATP1B2 CACNA1F CHM CNGA3 CNGB3
2 cellular MP:0005384 10 ATP1B2 BEST1 CACNA1F CNGB3 CRB1 GRK1
3 pigmentation MP:0001186 9.65 ABCA4 BEST1 CHM CRB1 CRX MERTK
4 vision/eye MP:0005391 9.58 ABCA4 ATP1B2 BEST1 CACNA1F CHM CNGA3

Drugs & Therapeutics for Retinoschisis 1, X-Linked, Juvenile

Drugs for Retinoschisis 1, X-Linked, Juvenile (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
2
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4 Antihypertensive Agents Phase 4
5 Carbonic Anhydrase Inhibitors Phase 4
6 Anesthetics Phase 4
7 Immunologic Factors Phase 4
8 Hormones Phase 4
9 Hormone Antagonists Phase 4
10 triamcinolone acetonide Phase 4
11 Immunosuppressive Agents Phase 4
12 Triamcinolone diacetate Phase 4
13 Triamcinolone hexacetonide Phase 4
14 Anesthetics, Local Phase 4
15 glucocorticoids Phase 4
16 Anti-Inflammatory Agents Phase 4
17
Bevacizumab Approved, Investigational 216974-75-3
18
Brinzolamide Approved 138890-62-7 68844
19 Diminazene aceturate
20 Angiogenesis Inhibitors
21 Antineoplastic Agents, Immunological

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
2 The Effects of Triamcinolone Acetonide With Retrobulbar Anesthesia on Postoperative Pain Control Following Vitreoretinal Surgery Completed NCT01995045 Phase 4 Triamcinolone;Bupivicaine Hydrochloride
3 A Phase I/IIa Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis Recruiting NCT02317887 Phase 1, Phase 2
4 A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing Retinoschisin (rAAV2tYF-CB-hRS1) in Patients With X-linked Retinoschisis Active, not recruiting NCT02416622 Phase 1, Phase 2
5 Macular Tractional Retinoschisis in Proliferative Diabetic Retinopathy Unknown status NCT01312207
6 Combined Phako-Vitrectomy With ILM Peeling, Retinal Endophotocoagulation, and Intraoperative Use of Bevacizumab for Diffuse Diabetic Macular Edema Unknown status NCT01218750
7 Patient Expectations When Enrolling in a Phase I/II RS1 Ocular Gene Transfer Clinical Trial Completed NCT02317354
8 Clinical Evaluation of Patients With X-linked Retinoschisis (XLRS) Completed NCT02331173 Dorzolamide 2% TID or brinzolamide 1% TID
9 Mothers' Experiences With X-linked Retinoschisis Compared to Fathers' Experiences Completed NCT03354403
10 Color Vision as an Outcome Measure for Clinical Trials of Inherited Retinal Degenerations Completed NCT01878032
11 Macular Retinoschisis and Detachment Associated With Glaucomatous Optic Neuropathy But Without Optic Disc Pit Nor High Myopia Completed NCT01862627
12 The Association of the Peripheral Retinal Changes and Genotypic Changes in Patients With Age Related Macular Degeneration Completed NCT03492853
13 Macular Detachment Associated With Intrachoroidal Cavitation Completed NCT01959724
14 Use of Spectral Domain Optical Coherence Tomography to Differentiate and Follow-up Senile Retinoschisis and Retinal Detachment Completed NCT02682797
15 Ultrastructure Analysis of Excised Internal Limiting Membrane in Eyes of Highly Myopia With Myopic Traction Maculopathy Completed NCT02528058
16 A Randomized, Open Label, Single Center Study Comparing the Efficacy of Macular Buckle Versus Vitrectomy + Internal Limiting Membrane Peeling + Gas Tamponade on Macular Schisis and Concurrent Macular Detachment in Eyes With Highly Myopia Completed NCT03023800
17 Evaluation of Pars Plana Vitrectomy With Internal Limiting Membrane Peeling for Myopic Traction Maculopathy Completed NCT04278079
18 Vitrectomy Without Laser or Gas Tamponade for Optic Disc Pit Maculopathy Completed NCT01340703
19 Fundus Changes in the Microphthalmy Eyes Completed NCT00811512
20 Optical Coherence Tomography Imaging of the Posterior Segment in High Myopia. Completed NCT00347451
21 X-Linked Juvenile Retinoschisis - Clinical and Molecular Studies Recruiting NCT00055029
22 Application of Pars Plana Vitrectomy in the Treatment of Macular Schisis in High Myopic Eyes Recruiting NCT03586193
23 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
24 A Randomized Controlled Trial Comparing Pneumatic Retinopexy Versus Vitrectomy for the Management of Primary Retinal Detachment in Patients With Extended Criteria; Anatomical Success, Functional Success and Impact on Patient Quality of Life Recruiting NCT02871531

Search NIH Clinical Center for Retinoschisis 1, X-Linked, Juvenile

Cochrane evidence based reviews: retinoschisis

Genetic Tests for Retinoschisis 1, X-Linked, Juvenile

Genetic tests related to Retinoschisis 1, X-Linked, Juvenile:

# Genetic test Affiliating Genes
1 Juvenile Retinoschisis 29 RS1
2 Retinoschisis 29

Anatomical Context for Retinoschisis 1, X-Linked, Juvenile

MalaCards organs/tissues related to Retinoschisis 1, X-Linked, Juvenile:

40
Eye, Retina, Testes, Endothelial, Pineal

Publications for Retinoschisis 1, X-Linked, Juvenile

Articles related to Retinoschisis 1, X-Linked, Juvenile:

(show top 50) (show all 1324)
# Title Authors PMID Year
1
First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis. 56 24 54 61 6
10636740 1999
2
Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland. 24 6 56 61
10234514 1999
3
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. 61 56 24 6
9618178 1998
4
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. 56 6 54 61
10533068 1999
5
X-linked retinoschisis in a female with a heterozygous RS1 missense mutation. 56 6 61
17304551 2007
6
Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. 54 56 61 24
11983912 2002
7
Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. 61 54 56 24
10922205 2000
8
Positional cloning of the gene associated with X-linked juvenile retinoschisis. 61 6 56
9326935 1997
9
Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis. 61 24 56
12417531 2002
10
Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cells. 24 61 56
12096974 2002
11
Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. 56 54 61
15531314 2004
12
X-Linked juvenile retinoschisis associated with a 4-base pair insertion at codon 55 of the XLRS1 gene. 61 54 6
10679210 2000
13
Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing. 61 56
25999676 2015
14
Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene. 56 61
22110067 2011
15
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 61 56
20061330 2010
16
Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy. 61 56
17525175 2007
17
X-linked retinoschisis: an update. 61 56
17172462 2007
18
Novel phenotypic and genotypic findings in X-linked retinoschisis. 61 56
17296904 2007
19
X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. 56 61
15937075 2005
20
Optical coherence tomography findings in familial foveal retinoschisis. 61 56
14700666 2004
21
X-Linked Juvenile Retinoschisis 61 6
20301401 2003
22
Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. 61 54 24
12746437 2003
23
Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene. 54 61 24
11594966 2001
24
Axial length and refractive error in X-linked retinoschisis. 61 56
11384589 2001
25
X-linked retinoschisis with point mutations in the XLRS1 gene. 61 56
10636421 2000
26
A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation. 61 56
10415464 1999
27
Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis. 61 56
9150161 1997
28
An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. 61 56
8744027 1996
29
Refined genetic mapping of juvenile X-linked retinoschisis. 61 56
7558052 1995
30
Infantile presentation of X linked retinoschisis. 61 56
7662629 1995
31
X linked retinoschisis. 56 61
7662639 1995
32
Mizuo phenomenon in X-linked retinoschisis. Pathogenesis of the Mizuo phenomenon. 61 56
1867553 1991
33
Contribution to carrier detection and genetic counselling in X linked retinoschisis. 56 61
1678432 1991
34
Male proband with X linked retinoschisis apparently inherited from his father's family. 61 56
2051461 1991
35
Refined localization of the gene causing X-linked juvenile retinoschisis. 56 61
2032721 1991
36
Linkage relationship of X-linked juvenile retinoschisis with Xp22.1-p22.3 probes. 61 56
1977307 1990
37
Linkage relationship between retinoschisis and four marker loci. 61 56
2900804 1988
38
Detection of the carrier state of X-linked retinoschisis. 61 56
3377039 1988
39
DNA linkage analysis of X-linked retinoschisis. 61 56
2894345 1988
40
X-linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85. 61 56
2887320 1987
41
Linkage relationships between Retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome. 61 56
6885047 1983
42
Visual acuity in 183 cases of X-chromosomal retinoschisis. 56 61
4742888 1973
43
Pathology of hereditary juvenile retinoschisis. 61 56
5054298 1972
44
X-chromosomal recessive retinoschisis in the Region of Pori. An ophthalmo-genetical analysis of 103 cases. 61 56
5395858 1969
45
Histopathology of juvenile retinoschisis. 56 61
5635090 1968
46
[SEX-RELATED HEREDITARY RETINOSCHISIS IN 2 FAMILIES IN FINLAND]. 61 56
14115917 1963
47
X-LINKED HEREDITARY RETINOSCHISIS. 61 56
18170832 1962
48
Hereditary retinoschisis. 56 61
13705184 1961
49
Retinoschisin gene therapy in photoreceptors, Müller glia or all retinal cells in the Rs1h-/- mouse. 61 24
24694538 2014
50
X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships. 61 24
24138048 2013

Variations for Retinoschisis 1, X-Linked, Juvenile

ClinVar genetic disease variations for Retinoschisis 1, X-Linked, Juvenile:

6 (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RS1 NM_000330.4(RS1):c.632C>T (p.Ala211Val)SNV Pathogenic 812429 X:18660167-18660167 X:18642047-18642047
2 RS1 NM_003159.2(CDKL5):c.2797+1141A>GSNV Pathogenic 9886 rs61752063 X:18665351-18665351 X:18647231-18647231
3 RS1 NM_003159.2(CDKL5):c.2797+1123G>ASNV Pathogenic 9887 rs61752067 X:18665333-18665333 X:18647213-18647213
4 CDKL5 , RS1 NM_003159.2(CDKL5):c.2797+1213C>TSNV Pathogenic 9888 rs104894928 X:18665423-18665423 X:18647303-18647303
5 RS1 NM_003159.2(CDKL5):c.2797+1211C>GSNV Pathogenic 9889 rs104894932 X:18665421-18665421 X:18647301-18647301
6 RS1 NM_003159.2(CDKL5):c.2797+1206C>ASNV Pathogenic 9890 rs104894933 X:18665416-18665416 X:18647296-18647296
7 RS1 NM_003159.2(CDKL5):c.2797+1102C>GSNV Pathogenic 9891 rs104894934 X:18665312-18665312 X:18647192-18647192
8 RS1 NM_000330.3(RS1):c.38T>C (p.Leu13Pro)SNV Pathogenic 9892 rs104894935 X:18690151-18690151 X:18672031-18672031
9 RS1 NM_003159.2(CDKL5):c.2714-3995A>GSNV Pathogenic 9893 rs104894929 X:18660132-18660132 X:18642012-18642012
10 RS1 RS1, 4-BP INSinsertion Pathogenic 9894
11 RS1 NM_003159.2(CDKL5):c.2714-3936G>ASNV Pathogenic 9895 rs104894930 X:18660191-18660191 X:18642071-18642071
12 RS1 NM_003159.2(CDKL5):c.2797+1122C>TSNV Pathogenic 9896 rs61752068 X:18665332-18665332 X:18647212-18647212
13 RS1 NM_003159.2(CDKL5):c.2714-1384C>TSNV Pathogenic 98938 rs61752075 X:18662743-18662743 X:18644623-18644623
14 RS1 NM_003159.2(CDKL5):c.2714-1473C>TSNV Pathogenic 98956 rs61752156 X:18662654-18662654 X:18644534-18644534
15 RS1 NM_003159.2(CDKL5):c.2714-1476G>ASNV Pathogenic 98959 rs61752158 X:18662651-18662651 X:18644531-18644531
16 RS1 NM_003159.2(CDKL5):c.2714-3849T>CSNV Pathogenic 98982 rs281865349 X:18660278-18660278 X:18642158-18642158
17 RS1 NM_003159.2(CDKL5):c.2714-3902G>ASNV Pathogenic 98990 rs61753174 X:18660225-18660225 X:18642105-18642105
18 RS1 NM_003159.2(CDKL5):c.2714-3906G>ASNV Pathogenic 98994 rs281865352 X:18660221-18660221 X:18642101-18642101
19 RS1 NM_003159.2(CDKL5):c.2797+1219C>TSNV Pathogenic 372496 rs62645894 X:18665429-18665429 X:18647309-18647309
20 CDKL5 , RS1 NM_003159.2(CDKL5):c.2714-3918C>TSNV Pathogenic/Likely pathogenic 98997 rs281865355 X:18660209-18660209 X:18642089-18642089
21 RS1 NM_003159.2(CDKL5):c.2714-1477C>TSNV Pathogenic/Likely pathogenic 98960 rs61752159 X:18662650-18662650 X:18644530-18644530
22 RS1 NM_003159.2(CDKL5):c.2714-1578C>TSNV Pathogenic/Likely pathogenic 98979 rs281865348 X:18662549-18662549 X:18644429-18644429
23 CDKL5 , RS1 NM_003159.2(CDKL5):c.2714-3953G>ASNV Likely pathogenic 99006 rs281865361 X:18660174-18660174 X:18642054-18642054
24 RS1 NM_003159.2(CDKL5):c.2714-4001A>GSNV Likely pathogenic 371642 rs1057517433 X:18660126-18660126 X:18642006-18642006
25 RS1 NM_003159.2(CDKL5):c.2714-1553G>TSNV Likely pathogenic 370754 rs1057516744 X:18662574-18662574 X:18644454-18644454
26 RS1 NM_003159.2(CDKL5):c.2797+1161T>CSNV Likely pathogenic 98923 rs61752060 X:18665371-18665371 X:18647251-18647251
27 RS1 NM_003159.2(CDKL5):c.2797+1101C>TSNV Likely pathogenic 98937 rs281865345 X:18665311-18665311 X:18647191-18647191
28 RS1 NM_003159.2(CDKL5):c.2714-1404G>ASNV Uncertain significance 68072 rs199469696 X:18662723-18662723 X:18644603-18644603

UniProtKB/Swiss-Prot genetic disease variations for Retinoschisis 1, X-Linked, Juvenile:

73 (show top 50) (show all 66)
# Symbol AA change Variation ID SNP ID
1 RS1 p.Glu72Asp VAR_008180 rs104894932
2 RS1 p.Glu72Lys VAR_008181 rs104894928
3 RS1 p.Gly74Val VAR_008182 rs104894933
4 RS1 p.Trp96Arg VAR_008183 rs61752063
5 RS1 p.Arg102Trp VAR_008184 rs61752067
6 RS1 p.Gly109Arg VAR_008185 rs104894934
7 RS1 p.Leu12His VAR_008209 rs62645879
8 RS1 p.Leu13Pro VAR_008210 rs104894935
9 RS1 p.Cys59Ser VAR_008211 rs62645889
10 RS1 p.Tyr65Cys VAR_008212 rs62645892
11 RS1 p.Gly70Ala VAR_008213
12 RS1 p.Gly70Ser VAR_008214 rs62645894
13 RS1 p.Tyr89Cys VAR_008215 rs61752060
14 RS1 p.Ala98Glu VAR_008216 rs61752065
15 RS1 p.Arg102Gln VAR_008217 rs61752068
16 RS1 p.Leu103Arg VAR_008218 rs61752069
17 RS1 p.Phe108Cys VAR_008219 rs61752072
18 RS1 p.Gly109Glu VAR_008220 rs281865345
19 RS1 p.Gly109Trp VAR_008221 rs104894934
20 RS1 p.Cys110Tyr VAR_008222 rs61752075
21 RS1 p.Trp112Cys VAR_008223 rs61752144
22 RS1 p.Leu113Phe VAR_008224 rs61752145
23 RS1 p.Leu127Pro VAR_008225 rs61752149
24 RS1 p.Gly135Val VAR_008226 rs61752152
25 RS1 p.Ile136Thr VAR_008227 rs61752153
26 RS1 p.Thr138Ala VAR_008228 rs61752154
27 RS1 p.Gly140Glu VAR_008229 rs61752157
28 RS1 p.Gly140Arg VAR_008230 rs61752156
29 RS1 p.Arg141Cys VAR_008231 rs61752158
30 RS1 p.Arg141Gly VAR_008232 rs61752158
31 RS1 p.Arg141His VAR_008233 rs61752159
32 RS1 p.Cys142Trp VAR_008234 rs1800001
33 RS1 p.Asp143Val VAR_008235 rs61753161
34 RS1 p.Glu146Asp VAR_008236 rs61753163
35 RS1 p.Glu146Lys VAR_008237 rs61753162
36 RS1 p.Tyr155Cys VAR_008238 rs61753165
37 RS1 p.Trp163Cys VAR_008240 rs61753166
38 RS1 p.Gly178Asp VAR_008241 rs61753169
39 RS1 p.Arg182Cys VAR_008242 rs61753171
40 RS1 p.Pro192Arg VAR_008243 rs61753175
41 RS1 p.Pro192Ser VAR_008244 rs61753174
42 RS1 p.Pro193Leu VAR_008245 rs281865352
43 RS1 p.Pro193Ser VAR_008246 rs281865351
44 RS1 p.Arg197Cys VAR_008247 rs281865354
45 RS1 p.Arg197His VAR_008248 rs281865355
46 RS1 p.Ile199Thr VAR_008249 rs281865356
47 RS1 p.Arg200Cys VAR_008251 rs281865357
48 RS1 p.Arg200His VAR_008252 rs281865358
49 RS1 p.Pro203Leu VAR_008253 rs104894930
50 RS1 p.His207Gln VAR_008254 rs281865360

Expression for Retinoschisis 1, X-Linked, Juvenile

Search GEO for disease gene expression data for Retinoschisis 1, X-Linked, Juvenile.

Pathways for Retinoschisis 1, X-Linked, Juvenile

GO Terms for Retinoschisis 1, X-Linked, Juvenile

Cellular components related to Retinoschisis 1, X-Linked, Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 9.33 RHO GRK1 ABCA4
2 transmembrane transporter complex GO:1902495 9.32 CNGB3 CNGA3
3 neuron to neuron synapse GO:0098984 9.26 RS1 ATP1B2
4 photoreceptor inner segment GO:0001917 9.26 RS1 RHO CRB1 ATP1B2
5 photoreceptor outer segment GO:0001750 9.17 RPGR RHO MERTK GRK1 CNGB3 CACNA1F

Biological processes related to Retinoschisis 1, X-Linked, Juvenile according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 CNGB3 CNGA3 CACNA1F BEST1 ATP1B2
2 response to stimulus GO:0050896 9.8 RS1 RPGR RPE65 RHO NYX NR2E3
3 retina development in camera-type eye GO:0060041 9.65 RPE65 RHO NR2E3 MERTK CRB1
4 photoreceptor cell maintenance GO:0045494 9.62 RHO CRB1 ATP1B2 ABCA4
5 retinoid metabolic process GO:0001523 9.54 RPE65 RHO ABCA4
6 visual perception GO:0007601 9.5 RS1 RPGR RPE65 RHO NYX NR2E3
7 eye photoreceptor cell development GO:0042462 9.49 NR2E3 CRB1
8 cellular response to light stimulus GO:0071482 9.48 RHO CRB1
9 retina morphogenesis in camera-type eye GO:0060042 9.46 RPE65 CRB1
10 detection of light stimulus involved in visual perception GO:0050908 9.46 RPE65 CRB1 CACNA1F BEST1
11 rhodopsin mediated signaling pathway GO:0016056 9.43 RHO GRK1
12 phototransduction, visible light GO:0007603 9.4 RHO ABCA4

Molecular functions related to Retinoschisis 1, X-Linked, Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cGMP binding GO:0030553 9.16 CNGB3 CNGA3
2 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGB3 CNGA3
3 intracellular cGMP-activated cation channel activity GO:0005223 8.62 CNGB3 CNGA3

Sources for Retinoschisis 1, X-Linked, Juvenile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
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43 MeSH
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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