XJR
MCID: JVN042
MIFTS: 39

Juvenile Retinoschisis (XJR)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Juvenile Retinoschisis

MalaCards integrated aliases for Juvenile Retinoschisis:

Name: Juvenile Retinoschisis 20 36 29 54 6
Retinoschisis Juvenile X Chromosome-Linked 20
Retinoschisis, Juvenile, X-Linked 71
X-Linked Juvenile Retinoschisis 20
X-Linked Retinoschisis 20
Retinoschisis X-Linked 20
Xjr 20

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

KEGG 36 H01766
UMLS 71 C0271091

Summaries for Juvenile Retinoschisis

GARD : 20 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.

MalaCards based summary : Juvenile Retinoschisis, also known as retinoschisis juvenile x chromosome-linked, is related to retinoschisis 1, x-linked, juvenile and oguchi disease. An important gene associated with Juvenile Retinoschisis is RS1 (Retinoschisin 1), and among its related pathways/superpathways are Hepatic ABC Transporters and Thyroid hormone signaling pathway. The drugs Dorzolamide and Brinzolamide have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and pineal.

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.

Related Diseases for Juvenile Retinoschisis

Diseases in the Juvenile Retinoschisis family:

Retinoschisis, Autosomal Dominant

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

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 retinoschisis 1, x-linked, juvenile 32.3 RS1 CDKL5 ATP1B2
2 oguchi disease 11.1
3 x-linked congenital retinoschisis 10.6
4 macular degeneration, age-related, 1 10.5
5 retinal detachment 10.5
6 strabismus 10.3
7 mechanical strabismus 10.3
8 yemenite deaf-blind hypopigmentation syndrome 10.3
9 macular holes 10.3
10 retinal degeneration 10.3
11 fundus dystrophy 10.3
12 inherited retinal disorder 10.3
13 retinoschisis of fovea 10.3
14 retinal disease 10.3
15 vitreoretinal degeneration 10.3
16 vitreoretinopathy, neovascular inflammatory 10.2
17 retinitis pigmentosa 10.2
18 microvascular complications of diabetes 5 10.2
19 neuroretinitis 10.2
20 retinitis 10.2
21 vitreous detachment 10.2
22 hereditary retinal dystrophy 10.2
23 retinoblastoma 10.2
24 coats disease 10.2
25 scotoma 10.2
26 pathologic nystagmus 10.2
27 farsightedness 10.2
28 pik3ca-related overgrowth syndrome 10.2
29 intraocular pressure quantitative trait locus 10.1
30 fundus albipunctatus 10.1
31 complete androgen insensitivity syndrome 10.1
32 rubeosis iridis 10.1
33 vitreoretinal dystrophy 10.1
34 neovascular glaucoma 10.1
35 retinal vascular disease 10.1
36 macular retinal edema 10.1
37 eye disease 10.1
38 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
39 persistent hyperplastic primary vitreous, autosomal recessive 10.0
40 proteasome-associated autoinflammatory syndrome 1 10.0
41 aging 10.0
42 cataract, age-related nuclear 10.0
43 astigmatism 10.0
44 night blindness, congenital stationary, type 1e 10.0
45 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
46 congenital stationary night blindness 10.0
47 cone dystrophy 10.0
48 persistent hyperplastic primary vitreous 10.0
49 stickler syndrome 10.0
50 sensorineural hearing loss 10.0

Graphical network of the top 20 diseases related to Juvenile Retinoschisis:



Diseases related to Juvenile Retinoschisis

Symptoms & Phenotypes for Juvenile Retinoschisis

Drugs & Therapeutics for Juvenile Retinoschisis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dorzolamide Approved 120279-96-1 3154 5284549
2
Brinzolamide Approved 138890-62-7 68844
3 Antihypertensive Agents
4 Carbonic Anhydrase Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I/IIa Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis Recruiting NCT02317887 Phase 1, Phase 2
2 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
3 Clinical Evaluation of Patients With X-linked Retinoschisis (XLRS) Completed NCT02331173 Dorzolamide 2% TID or brinzolamide 1% TID
4 Mothers' Experiences With X-linked Retinoschisis Compared to Fathers' Experiences Completed NCT03354403
5 X-Linked Juvenile Retinoschisis - Clinical and Molecular Studies Recruiting NCT00055029

Search NIH Clinical Center for Juvenile Retinoschisis

Genetic Tests for Juvenile Retinoschisis

Genetic tests related to Juvenile Retinoschisis:

# Genetic test Affiliating Genes
1 Juvenile Retinoschisis 29 RS1

Anatomical Context for Juvenile Retinoschisis

MalaCards organs/tissues related to Juvenile Retinoschisis:

40
Retina, Eye, Pineal

Publications for Juvenile Retinoschisis

Articles related to Juvenile Retinoschisis:

(show top 50) (show all 584)
# Title Authors PMID Year
1
X-Linked juvenile retinoschisis associated with a 4-base pair insertion at codon 55 of the XLRS1 gene. 54 6 61
10679210 2000
2
First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis. 6 61 54
10636740 1999
3
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. 61 54 6
10533068 1999
4
X-linked retinoschisis in a female with a heterozygous RS1 missense mutation. 6 61
17304551 2007
5
Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland. 6 61
10234514 1999
6
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. 61 6
9618178 1998
7
Positional cloning of the gene associated with X-linked juvenile retinoschisis. 6 61
9326935 1997
8
Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis. 54 61
20151283 2010
9
Genetic and clinical evaluation of juvenile retinoschisis. 61 54
19393523 2009
10
Molecular analysis of the XLRS1 gene in 4 females affected with X-linked juvenile retinoschisis. 54 61
18982040 2008
11
Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene. 54 61
18728755 2008
12
Use of topical dorzolamide for patients with X-linked juvenile retinoschisis: case report. 54 61
18516436 2008
13
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families. 61 54
18369700 2008
14
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. 54 61
19093009 2008
15
Identification of novel mutations in the XLRS1 gene in Chinese patients with X-linked juvenile retinoschisis. 54 61
17852193 2007
16
Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. 54 61
17615541 2007
17
Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis. 61 54
16900931 2006
18
Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis. 61 54
16167295 2005
19
Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. 61 54
15531314 2004
20
Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations. 54 61
15281981 2004
21
Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis. 54 61
14986011 2004
22
Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome. 54 61
12920343 2003
23
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. 61 54
12928282 2003
24
Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. 61 54
12746437 2003
25
Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin. 54 61
12782284 2003
26
Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis. 54 61
12383832 2002
27
Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene. 54 61
12457918 2002
28
Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. 54 61
11983912 2002
29
Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene. 61 54
11594966 2001
30
Molecular genetics of macular degeneration. 54 61
11556484 2001
31
Different mutation of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks. 54 61
11225572 2001
32
Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene. 61 54
11217940 2001
33
A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis. 61 54
11058916 2000
34
Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation. 61 54
11035549 2000
35
Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. 54 61
10922205 2000
36
Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. 61 54
10450864 1999
37
Severe juvenile retinoschisis associated with a 33-bps deletion in XLRS1 gene. 61 54
10454824 1999
38
The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors. 61 54
10023077 1999
39
Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online. 54 61
10220153 1999
40
Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene. 61 54
9760195 1998
41
Efficient DNA carrier detection in X linked juvenile retinoschisis. 54 61
7662636 1995
42
Engineered FnCas12a with enhanced activity through directional evolution in human cells. 61
33567342 2021
43
Optical coherence tomography analyses based segmentation and relative intensity evaluation of outer retinal layers in patients affected with X-linked juvenile retinoschisis. 61
33594896 2021
44
Immune function in X-linked retinoschisis (XLRS) subjects in an AAV8-RS1 Phase I/IIa gene therapy trial. 61
33601057 2021
45
A novel mutation in the RS1 gene in a Chinese family with X-linked congenital retinoschisis. 61
33335587 2021
46
Current Clinical Applications of In Vivo Gene Therapy with AAVs. 61
33309881 2021
47
Carbonic anhydrase inhibition in X-linked retinoschisis: An eye on the photoreceptors. 61
33186570 2021
48
Genetic Rescue of X-Linked Retinoschisis Mouse (Rs1-/y) Retina Induces Quiescence of the Retinal Microglial Inflammatory State Following AAV8-RS1 Gene Transfer and Identifies Gene Networks Underlying Retinal Recovery. 61
33019822 2020
49
X-linked juvenile retinoschisis: Presentation of a case. 61
32553802 2020
50
Retinal detachment repair with perfluoro-N-octane endotamponade in an infant with juvenile X-linked retinoschisis. 61
33235941 2020

Variations for Juvenile Retinoschisis

ClinVar genetic disease variations for Juvenile Retinoschisis:

6 (show all 36)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RS1 NM_000330.3(RS1):c.38T>C (p.Leu13Pro) SNV Pathogenic 9892 rs104894935 X:18690151-18690151 X:18672031-18672031
2 CDKL5 NM_003159.2(CDKL5):c.2714-3995A>G SNV Pathogenic 9893 rs104894929 X:18660132-18660132 X:18642012-18642012
3 RS1 RS1, 4-BP INS Insertion Pathogenic 9894
4 CDKL5 NM_000330.3(RS1):c.608C>T (p.Pro203Leu) SNV Pathogenic 9895 rs104894930 X:18660191-18660191 X:18642071-18642071
5 CDKL5 NM_000330.3(RS1):c.305G>A (p.Arg102Gln) SNV Pathogenic 9896 rs61752068 X:18665332-18665332 X:18647212-18647212
6 CDKL5 NM_000330.4(RS1):c.199_206dup (p.Gly70fs) Duplication Pathogenic 813235 X:18665430-18665431 X:18647310-18647311
7 CDKL5 NM_000330.3(RS1):c.366G>A (p.Trp122Ter) SNV Pathogenic 547067 rs61752147 X:18662706-18662706 X:18644586-18644586
8 CDKL5 NM_000330.3(RS1):c.185-1G>C SNV Pathogenic 98910 rs281865344 X:18665453-18665453 X:18647333-18647333
9 CDKL5 NM_000330.3(RS1):c.208G>A (p.Gly70Ser) SNV Pathogenic 372496 rs62645894 X:18665429-18665429 X:18647309-18647309
10 CDKL5 NM_000330.3(RS1):c.325G>C (p.Gly109Arg) SNV Pathogenic 9891 rs104894934 X:18665312-18665312 X:18647192-18647192
11 CDKL5 NM_000330.3(RS1):c.221G>T (p.Gly74Val) SNV Pathogenic 9890 rs104894933 X:18665416-18665416 X:18647296-18647296
12 CDKL5 NM_000330.3(RS1):c.216G>C (p.Glu72Asp) SNV Pathogenic 9889 rs104894932 X:18665421-18665421 X:18647301-18647301
13 CDKL5 NM_000330.3(RS1):c.304C>T (p.Arg102Trp) SNV Pathogenic 9887 rs61752067 X:18665333-18665333 X:18647213-18647213
14 CDKL5 NM_000330.3(RS1):c.286T>C (p.Trp96Arg) SNV Pathogenic 9886 rs61752063 X:18665351-18665351 X:18647231-18647231
15 CDKL5 NM_000330.3(RS1):c.214G>A (p.Glu72Lys) SNV Pathogenic/Likely pathogenic 9888 rs104894928 X:18665423-18665423 X:18647303-18647303
16 CDKL5 NM_000330.4(RS1):c.649del (p.Leu217fs) Deletion Likely pathogenic 931958 X:18660150-18660150 X:18642030-18642030
17 CDKL5 NM_000330.4(RS1):c.215A>G (p.Glu72Gly) SNV Likely pathogenic 992968 X:18665422-18665422 X:18647302-18647302
18 CDKL5 NM_000330.3(RS1):c.574C>T (p.Pro192Ser) SNV Likely pathogenic 98990 rs61753174 X:18660225-18660225 X:18642105-18642105
19 CDKL5 NM_000330.3(RS1):c.673T>C (p.Ter225Arg) SNV Likely pathogenic 371642 rs1057517433 X:18660126-18660126 X:18642006-18642006
20 CDKL5 NM_000330.3(RS1):c.625C>T (p.Arg209Cys) SNV Likely pathogenic 99006 rs281865361 X:18660174-18660174 X:18642054-18642054
21 CDKL5 NM_000330.3(RS1):c.266A>G (p.Tyr89Cys) SNV Likely pathogenic 98923 rs61752060 X:18665371-18665371 X:18647251-18647251
22 CDKL5 NM_000330.3(RS1):c.522+1G>A SNV Likely pathogenic 98979 rs281865348 X:18662549-18662549 X:18644429-18644429
23 CDKL5 NM_000330.3(RS1):c.422G>A (p.Arg141His) SNV Likely pathogenic 98960 rs61752159 X:18662650-18662650 X:18644530-18644530
24 CDKL5 NM_000330.3(RS1):c.498C>A (p.Tyr166Ter) SNV Likely pathogenic 370754 rs1057516744 X:18662574-18662574 X:18644454-18644454
25 CDKL5 NM_000330.3(RS1):c.590G>A (p.Arg197His) SNV Likely pathogenic 98997 rs281865355 X:18660209-18660209 X:18642089-18642089
26 CDKL5 NM_000330.3(RS1):c.349C>T (p.Gln117Ter) SNV Uncertain significance 68072 rs199469696 X:18662723-18662723 X:18644603-18644603
27 RS1 NM_000330.4(RS1):c.184+9C>T SNV Uncertain significance 755144 rs377631416 X:18674764-18674764 X:18656644-18656644
28 CDKL5 NM_000330.4(RS1):c.320G>T (p.Gly107Val) SNV Uncertain significance 930876 X:18665317-18665317 X:18647197-18647197
29 CDKL5 NM_000330.4(RS1):c.523-10_523-7del Deletion Uncertain significance 840240 X:18660283-18660286 X:18642163-18642166
30 CDKL5 NM_000330.4(RS1):c.548C>T (p.Thr183Ile) SNV Likely benign 736967 rs150172233 X:18660251-18660251 X:18642131-18642131
31 CDKL5 NM_000330.4(RS1):c.285G>A (p.Ser95=) SNV Likely benign 738705 rs143920122 X:18665352-18665352 X:18647232-18647232
32 CDKL5 NM_000330.4(RS1):c.471C>T (p.Thr157=) SNV Likely benign 797944 rs754381417 X:18662601-18662601 X:18644481-18644481
33 CDKL5 NM_000330.4(RS1):c.258G>A (p.Pro86=) SNV Benign 791378 rs147290350 X:18665379-18665379 X:18647259-18647259
34 RS1 NM_000330.4(RS1):c.76G>A (p.Glu26Lys) SNV Benign 741219 rs140983930 X:18675762-18675762 X:18657642-18657642
35 RS1 NM_000330.4(RS1):c.7C>G (p.Arg3Gly) SNV Benign 757382 rs571944937 X:18690182-18690182 X:18672062-18672062
36 CDKL5 NM_000330.4(RS1):c.295A>G (p.Asn99Asp) SNV Benign 710170 rs144683916 X:18665342-18665342 X:18647222-18647222

Expression for Juvenile Retinoschisis

Search GEO for disease gene expression data for Juvenile Retinoschisis.

Pathways for Juvenile Retinoschisis

Pathways related to Juvenile Retinoschisis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.55 ATP1B2 ATP1A3
2 11.52 ATP1B2 ATP1A3
3 11.36 ATP1B2 ATP1A3
4 11.31 ATP1B2 ATP1A3
5 11.09 ATP1B2 ATP1A3
6 10.98 ATP1B2 ATP1A3
7 10.83 ATP1B2 ATP1A3
8 10.52 ATP1B2 ATP1A3
9 9.98 ATP1B2 ATP1A3

GO Terms for Juvenile Retinoschisis

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

# Name GO ID Score Top Affiliating Genes
1 extrinsic component of plasma membrane GO:0019897 9.26 RS1 MFGE8
2 sodium:potassium-exchanging ATPase complex GO:0005890 9.16 ATP1B2 ATP1A3
3 photoreceptor inner segment GO:0001917 9.13 RS1 ATP1B2 ATP1A3
4 neuron to neuron synapse GO:0098984 8.8 RS1 ATP1B2 ATP1A3

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.61 RS1 MFGE8 ATP1B2
2 potassium ion transport GO:0006813 9.48 ATP1B2 ATP1A3
3 sodium ion transport GO:0006814 9.46 ATP1B2 ATP1A3
4 regulation of cardiac conduction GO:1903779 9.4 ATP1B2 ATP1A3
5 potassium ion import across plasma membrane GO:1990573 9.37 ATP1B2 ATP1A3
6 cellular sodium ion homeostasis GO:0006883 9.32 ATP1B2 ATP1A3
7 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.26 ATP1B2 ATP1A3
8 sodium ion export across plasma membrane GO:0036376 9.16 ATP1B2 ATP1A3
9 cellular potassium ion homeostasis GO:0030007 8.96 ATP1B2 ATP1A3
10 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 8.62 ATP1B2 ATP1A3

Molecular functions related to Juvenile Retinoschisis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylserine binding GO:0001786 8.96 RS1 MFGE8
2 sodium:potassium-exchanging ATPase activity GO:0005391 8.62 ATP1B2 ATP1A3

Sources for Juvenile Retinoschisis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....