Cone dystrophy with supernormal rod response
Synonyms: Cone dystrophy with supernormal rod ERG · Cone dystrophy with supernormal rod electroretinogram · Cone dystrophy with supernormal scotopic electroretinogram
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cone dystrophy with supernormal rod response | Cone dystrophy with supernormal rod ERG · Cone dystrophy with supernormal rod electroretinogram · Cone dystrophy with supernormal scotopic electroretinogram |
| fr | Dystrophie des cônes avec réponse scotopique supranormale | Dystrophie des cônes avec réponse scotopique supranormale à l'ERG · Dystrophie des cônes avec réponse scotopique supranormale à l'électrorétinogramme · Dystrophie des cônes avec réponse supranormale des bâtonnets à l'électrorétinogramme |
| de | Zapfendystrophie mit supernormalen Stäbchen-B-Wellen | Zapfendystrophie mit supernormalem Ganzfeld-Elektroretinogramm · Zapfendystrophie mit supernormalem Stäbchen-ERG · Zapfendystrophie mit supernormalem Stäbchen-Elektroretinogramm · Zapfendystrophie mit supernormaler Stäbchenantwort |
| es | Distrofia de conos con respuesta supranormal de bastones | Distrofia de conos con respuesta al electrorretinograma escotópico supranormal · Distrofia de conos con respuesta supranormal de los bastones al ERG · Distrofia de conos con respuesta supranormal de los bastones al electrorretinograma |
| it | Distrofia dei coni con risposta sopranormale dei bastoncelli | Distrofia dei coni con risposta sopranormale all'elettroretinogramma scotopico · Distrofia dei coni con risposta sopranormale dei bastoncelli all'elettroretinogramma |
| nl | Kegeldystrofie met supernormale staafrespons | Kegeldystrofie met supernormaal scotopisch elektroretinogram · Kegeldystrofie met supernormaal staaf-elektroretinogram · Kegeldystrofie met supernormale staaf-ERG |
| pt | Distrofia dos cones com resposta supernormal dos bastonetes | |
| pl | Dystrofia stożka z wzmocnioną odpowiedzią pręcików | Dystrofia stożka z ponadnormalnym ERG pręcików |
| cs | Čípková dystrofie se supernormální tyčinkovou odpovědí | Čípková dystrofie se supernormálním tyčinkovým ERG · Čípková dystrofie se supernormálním tyčinkovým elektroretinogramem · Čípková dystrofie se supernormálním skotopickým elektroretinogramem |
| uk | Дистрофія колбочок з супернормальною реакцією стрижнів | Дистрофія колбочок з супернормальною паличковою електроретинограмою · Дистрофія конуса з супернормальною стрижневою ЕРГ · Дистрофія колбочок з супернормальною скотопічною електроретинограмою |
| zh | 椎体营养不良伴超常视杆反应 | 椎体营养不良伴超常暗视视网膜电图 |
| tr | Olağanüstü rod cevabı ile koni distrofisi | Süper normal çubuk ERG ile seyreden koni distrofisi · Süper normal çubuk elektroretinogram ile seyreden koni distrofisi · Süper normal skotopik elektroretinogram ile seyreden koni distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610356 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B7Y | NTBT | index | validated |
| MONDO | 0012475 | E | validated | |
| UMLS | C1835897 | E | validated | |
| GARD | 10649 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:717324Rare genetic isolated progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNV2 | Disease-causing germline mutation(s) in | Assessed | HGNC:19698 | ENSG00000168263 | 607604 | 9p24.2 | potassium voltage-gated channel modifier subfamily V member 2 | 16909397[PMID]_18235024[PMID]_18400204[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 45 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/209932
- This record as JSON: /data/d/209932.json