MCID: XLN247
MIFTS: 20

X-Linked Congenital Retinoschisis

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

Aliases & Classifications for X-Linked Congenital Retinoschisis

MalaCards integrated aliases for X-Linked Congenital Retinoschisis:

Name: X-Linked Congenital Retinoschisis 25
X-Linked Retinoschisis 25

Classifications:



Summaries for X-Linked Congenital Retinoschisis

MalaCards based summary : X-Linked Congenital Retinoschisis, also known as x-linked retinoschisis, is related to retinoschisis 1, x-linked, juvenile and retinal disease. An important gene associated with X-Linked Congenital Retinoschisis is RS1 (Retinoschisin 1). The drugs Dorzolamide and Brinzolamide have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and pineal.

GeneReviews: NBK1222

Related Diseases for X-Linked Congenital Retinoschisis

Diseases in the Retinoschisis 1, X-Linked, Juvenile family:

X-Linked Congenital Retinoschisis

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

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 retinoschisis 1, x-linked, juvenile 10.6
2 retinal disease 10.5
3 macular holes 10.5
4 vitreoretinal dystrophy 10.4
5 macular retinal edema 10.4
6 retinal degeneration 10.4
7 juvenile retinoschisis 10.4
8 strabismus 10.3
9 mechanical strabismus 10.3
10 retinal detachment 10.3
11 retinitis pigmentosa 10.2
12 yemenite deaf-blind hypopigmentation syndrome 10.2
13 microvascular complications of diabetes 5 10.2
14 complete androgen insensitivity syndrome 10.2
15 neuroretinitis 10.2
16 retinitis 10.2
17 vitreous detachment 10.2
18 inherited retinal disorder 10.2
19 retinoblastoma 10.2
20 retinoschisis of fovea 10.2
21 coats disease 10.2
22 intraocular pressure quantitative trait locus 10.2
23 neovascular glaucoma 10.2
24 eye disease 10.2
25 cataract 10.2
26 scotoma 10.2
27 pathologic nystagmus 10.2
28 pik3ca-related overgrowth syndrome 10.2
29 vitreoretinopathy, neovascular inflammatory 10.1
30 macular degeneration, age-related, 1 10.1
31 suppression amblyopia 10.1
32 amblyopia 10.1
33 bullous retinoschisis 10.1
34 fundus dystrophy 10.1
35 refractive error 10.1
36 farsightedness 10.1
37 vitreoretinopathy 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 X-Linked Congenital Retinoschisis:



Diseases related to X-Linked Congenital Retinoschisis

Symptoms & Phenotypes for X-Linked Congenital Retinoschisis

Drugs & Therapeutics for X-Linked Congenital Retinoschisis

Drugs for X-Linked Congenital 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

Search NIH Clinical Center for X-Linked Congenital Retinoschisis

Genetic Tests for X-Linked Congenital Retinoschisis

Anatomical Context for X-Linked Congenital Retinoschisis

MalaCards organs/tissues related to X-Linked Congenital Retinoschisis:

40
Retina, Eye, Pineal

Publications for X-Linked Congenital Retinoschisis

Articles related to X-Linked Congenital Retinoschisis:

(show top 50) (show all 374)
# Title Authors PMID Year
1
"There Are Hills and Valleys": Experiences of Parenting a Son With X-Linked Retinoschisis. 61 25
31765628 2020
2
Motivations and Decision Making Processes of Men With X-linked Retinoschisis Considering Participation in an Ocular Gene Therapy Trial. 61 25
30885710 2019
3
Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis. 25 61
30652005 2019
4
Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant. 61 25
30419843 2018
5
Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis. 25 61
29739629 2018
6
Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery. 61 25
30196853 2018
7
X-linked juvenile retinoschisis: phenotypic and genetic characterization. 25 61
30450322 2018
8
Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis. 25 61
26101206 2015
9
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes. 61 25
23847049 2013
10
X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects. 61 25
22039241 2011
11
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 25 61
20061330 2010
12
Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study. 25 61
19474399 2009
13
Molecular genetic characteristics of X-linked retinoschisis in Koreans. 61 25
19390641 2009
14
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT. 25 61
17987333 2008
15
Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease. 25 61
16272055 2005
16
Fundus findings and longitudinal study of visual acuity loss in patients with X-linked retinoschisis. 61 25
16077359 2005
17
RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis. 25 61
15326152 2004
18
Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. 25 61
11222545 2001
19
Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. 25 61
10922205 2000
20
Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave. 61 25
10458173 1999
21
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. 61 25
9618178 1998
22
Identification of the retinoschisin-binding site on the retinal Na/K-ATPase. 25
31048931 2019
23
Intrafamilial Phenotype Variability in Two Male Siblings, With X-linked Juvenile Retinoschisis and Dorzolamide Treatment Effect in the Natural History of the Disease. 25
30923717 2019
24
X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships. 25
24138048 2013
25
Foveal retinoschisis misdiagnosed as bilateral amblyopia. 25
22752678 2012
26
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. 25
22245536 2012
27
Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis. 25
16027044 2005
28
Peripheral retinal degenerations and the risk of retinal detachment. 25
12834683 2003
29
Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene. 25
11594966 2001
30
First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis. 25
10636740 1999
31
Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland. 25
10234514 1999
32
Familial foveal retinoschisis associated with a rod-cone dystrophy. 25
306756 1978
33
Current Clinical Applications of In Vivo Gene Therapy with AAVs. 61
33309881 2021
34
Immune function in X-linked retinoschisis (XLRS) subjects in an AAV8-RS1 Phase I/IIa gene therapy trial. 61
33601057 2021
35
A novel mutation in the RS1 gene in a Chinese family with X-linked congenital retinoschisis. 61
33335587 2021
36
Engineered FnCas12a with enhanced activity through directional evolution in human cells. 61
33567342 2021
37
Carbonic anhydrase inhibition in X-linked retinoschisis: An eye on the photoreceptors. 61
33186570 2021
38
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
39
Retinal detachment repair with perfluoro-N-octane endotamponade in an infant with juvenile X-linked retinoschisis. 61
33235941 2020
40
Simplex Crumbs Homologue 1 Maculopathy Masquerading as Juvenile X-Linked Retinoschisis in Male Patients. 61
33029571 2020
41
Retinoschisis associated with Kearns-Sayre syndrome. 61
32787478 2020
42
Surgical management of a large retinal cyst in X-linked retinoschisis with internal drainage: Report of an unusual case. 61
32971698 2020
43
Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis. 61
33460243 2020
44
Outcome measures in juvenile X-linked retinoschisis: A systematic review. 61
32313171 2020
45
HANDHELD SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY FINDINGS OF X-LINKED RETINOSCHISIS IN EARLY CHILDHOOD. 61
31764609 2020
46
Multimodal imaging of bilateral macular hole in X-linked retinoschisis. 61
32907874 2020
47
X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity 61
32854471 2020
48
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies. 61
32860923 2020
49
A case of undiagnosed X-linked retinoschisis presenting as unilateral macular demarcation line. 61
32698614 2020
50
Dramatic response to topical dorzolamide in X-linked retinoschisis. 61
32587200 2020

Variations for X-Linked Congenital Retinoschisis

Expression for X-Linked Congenital Retinoschisis

Search GEO for disease gene expression data for X-Linked Congenital Retinoschisis.

Pathways for X-Linked Congenital Retinoschisis

GO Terms for X-Linked Congenital Retinoschisis

Sources for X-Linked Congenital 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
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