MCID: RTN078
MIFTS: 19

Retinoschisis of Fovea

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Retinoschisis of Fovea

MalaCards integrated aliases for Retinoschisis of Fovea:

Name: Retinoschisis of Fovea 57 20 70
Familial Foveal Retinoschisis 20
Foveal Retinoschisis 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
retinoschisis of fovea:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 268080
MedGen 41 C1849397
UMLS 70 C1849397

Summaries for Retinoschisis of Fovea

MalaCards based summary : Retinoschisis of Fovea, also known as familial foveal retinoschisis, is related to retinoschisis 1, x-linked, juvenile and retinal detachment. Related phenotypes are abnormal electroretinogram and nyctalopia

More information from OMIM: 268080

Related Diseases for Retinoschisis of Fovea

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

(show all 23)
# Related Disease Score Top Affiliating Genes
1 retinoschisis 1, x-linked, juvenile 10.4
2 retinal detachment 10.3
3 retinitis pigmentosa 10.1
4 bestrophinopathy, autosomal recessive 10.1
5 cone dystrophy 10.1
6 night blindness 10.1
7 x-linked congenital retinoschisis 10.1
8 juvenile retinoschisis 10.1
9 type 2 diabetes mellitus 10.0
10 macular degeneration, age-related, 1 10.0
11 microvascular complications of diabetes 1 10.0
12 microvascular complications of diabetes 2 10.0
13 microvascular complications of diabetes 5 10.0
14 monocular esotropia 10.0
15 suppression amblyopia 10.0
16 amblyopia 10.0
17 myopia 10.0
18 color blindness 10.0
19 retinal disease 10.0
20 macular holes 10.0
21 refractive error 10.0
22 accommodative esotropia 10.0
23 esotropia 10.0

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



Diseases related to Retinoschisis of Fovea

Symptoms & Phenotypes for Retinoschisis of Fovea

Human phenotypes related to Retinoschisis of Fovea:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 abnormal electroretinogram 31 HP:0000512
2 nyctalopia 31 HP:0000662
3 rod-cone dystrophy 31 HP:0000510
4 visual loss 31 HP:0000572
5 hypermetropia 31 HP:0000540
6 macular dystrophy 31 HP:0007754
7 mildly reduced visual acuity 31 HP:0032037
8 foveoschisis 31 HP:0012152

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Lab:
abnormal electroretinogram

Eyes:
nyctalopia
rod-cone dystrophy
hyperopia
mild visual loss
bilateral foveal dystrophy
more

Clinical features from OMIM®:

268080 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinoschisis of Fovea

Search Clinical Trials , NIH Clinical Center for Retinoschisis of Fovea

Genetic Tests for Retinoschisis of Fovea

Anatomical Context for Retinoschisis of Fovea

Publications for Retinoschisis of Fovea

Articles related to Retinoschisis of Fovea:

(show all 32)
# Title Authors PMID Year
1
Familial foveal retinoschisis associated with a rod-cone dystrophy. 61 57
306756 1978
2
Familial foveal retinoschisis. 57 61
880078 1977
3
Morphological Characteristics Predict Postoperative Outcomes After Vitrectomy in Myopic Traction Maculopathy Patients. 61
33104224 2020
4
CRB1-Related Cystic Maculopathy in Twins Conceived Through Heterologous Fertilization With Variant-Carrying Oocytes. 61
32176805 2020
5
NONHEREDITARY IDIOPATHIC FOVEAL RETINOSCHISIS ASSOCIATED WITH NEW-ONSET PROLIFERATIVE DIABETIC RETINOPATHY. 61
29176525 2020
6
Posterior scleral reinforcement using genipin-cross-linked sclera for macular hole retinal detachment in highly myopic eyes. 61
29519878 2018
7
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis. 61
27258436 2016
8
Complications of Macular Peeling. 61
26425351 2015
9
Bilateral foveal retinoschisis accompanying unilateral peripheral retinoschisis. 61
23571248 2014
10
Three-dimensional spectral domain optical coherence tomography in X linked foveal retinoschisis. 61
23563673 2013
11
Foveal retinoschisis misdiagnosed as bilateral amblyopia. 61
22752678 2012
12
Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene. 61
18728755 2008
13
Resolution of retinoschisis after vitreous surgery in X-linked retinoschisis. 61
17854899 2008
14
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. 61
19093009 2008
15
Thirteen-year follow up of isolated foveal retinoschisis in a 24-year-old woman. 61
16925710 2006
16
Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. 61
15531314 2004
17
Optical coherence tomography findings in familiar foveal retinoschisis. 61
15183819 2004
18
X-linked retinoschisis: a clinical and molecular genetic review. 61
14998693 2004
19
Optical coherence tomography findings in familial foveal retinoschisis. 61
14700666 2004
20
Isolated foveal retinoschisis as a cause of visual loss in young females. 61
12770998 2003
21
Prevalence and characteristics of foveal retinal detachment without macular hole in high myopia. 61
12614751 2003
22
[No X-chromosome linked juvenile foveal retinoschisis]. 61
12185620 2002
23
A case of juvenile retinoschisis diagnosed by analysis of the XLRS 1 gene 61
10913663 2000
24
Unilateral macular retinoschisis with stellate foveal appearance in two females with myopia. 61
10847501 2000
25
[A case of juvenile retinoschisis diagnosed by analysis of the XLRS 1 gene]. 61
10589241 1999
26
Foveal retinoschisis and retinal detachment in severely myopic eyes with posterior staphyloma. 61
10577588 1999
27
[A case of congenital retinoschisis with unexpected appearance and spontaneous regression]. 61
9284627 1997
28
Autosomal juvenile retinoschisis without foveal retinoschisis. 61
2751982 1989
29
Foveal retinoschisis associated with senile retinoschisis in a woman. 61
3394761 1988
30
Goldmann-Favre syndrome in a four-year-old-girl. 61
3428076 1987
31
Familial retinoschisis in female patients. 61
3678011 1987
32
Congenital hereditary retinoschisis: evolution at the initial stage. 61
6915726 1981

Variations for Retinoschisis of Fovea

Expression for Retinoschisis of Fovea

Search GEO for disease gene expression data for Retinoschisis of Fovea.

Pathways for Retinoschisis of Fovea

GO Terms for Retinoschisis of Fovea

Sources for Retinoschisis of Fovea

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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