Details of Disease

General Information of Disease (ID: DISHSXP5)

Disease Name Cone dystrophy with supernormal rod response
Synonyms
RCD3B; cone dystrophy with supernormal Rod responses; cone dystrophy with night blindness and supernormal Rod responses, Kcnv2-related; cone dystrophy with night blindness and supernormal rod responses KCNV2 related; retinal cone dystrophy 3B; cone dystrophy with supernormal rod electroretinogram; cone dystrophy with supernormal scotopic electroretinogram; cone dystrophy with supernormal rod ERG; cone dystrophy with supernormal rod response; retinal cone dystrophy type 3B
Definition
Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.
Disease Hierarchy
DIS7SAZZ: Cone dystrophy
DISHSXP5: Cone dystrophy with supernormal rod response
Disease Identifiers
MONDO ID
MONDO_0012475
MESH ID
C563678
UMLS CUI
C1835897
OMIM ID
610356
MedGen ID
332081
Orphanet ID
209932
SNOMED CT ID
719455002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PUM3 OTN1IPNS Limited CausalMutation [1]
PDE6H OTMLRB1D Strong Genetic Variation [2]
KCNV2 OTLS8OU5 Definitive Autosomal recessive [3]
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References

1 Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants.Mol Vis. 2013 Jul 20;19:1580-90. Print 2013.
2 Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.Invest Ophthalmol Vis Sci. 2008 Feb;49(2):751-7. doi: 10.1167/iovs.07-0471.
3 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.