Details of Disease

General Information of Disease (ID: DISTTWND)

Disease Name Retinoschisis
Definition An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision.
Disease Hierarchy
DISM1JHQ: Retinal degeneration
DISTTWND: Retinoschisis
Disease Identifiers
MONDO ID
MONDO_0004579
MESH ID
D041441
UMLS CUI
C0152439
MedGen ID
56292
HPO ID
HP:0030502
SNOMED CT ID
44268007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RS1 TTT2CZY Definitive Genetic Variation [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FNDC3A OTUX3S2I moderate Genetic Variation [2]
PLXNA2 OTNNBJMQ Strong Biomarker [3]
RAX OTJ3YCE7 Strong Genetic Variation [4]
RPE OT0XT3JU Strong Biomarker [5]
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References

1 Rearing Light Intensity Affects Inner Retinal Pathology in a Mouse Model of X-Linked Retinoschisis but Does Not Alter Gene Therapy Outcome.Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1656-1664. doi: 10.1167/iovs.16-21016.
2 Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.Hum Mutat. 1999;13(4):338. doi: 10.1002/(SICI)1098-1004(1999)13:4<338::AID-HUMU16>3.0.CO;2-0.
3 Intrachoroidal cavitation in myopic eyes.Int Ophthalmol. 2020 Jan;40(1):31-41. doi: 10.1007/s10792-019-01146-0. Epub 2019 Jul 12.
4 Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.Sci Rep. 2017 Aug 22;7(1):9064. doi: 10.1038/s41598-017-09276-0.
5 Retinoschisis in eyes with pachychoroid and retinal pigment epithelial atrophy.Graefes Arch Clin Exp Ophthalmol. 2019 Sep;257(9):1863-1871. doi: 10.1007/s00417-019-04388-x. Epub 2019 Jun 20.