cone dystrophy with supernormal rod response
Findings
No curated finding names cone dystrophy with supernormal rod response yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0012475), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Macular atrophyHPOHP:0007401
- Occasional (5% to 29% of cases)
- Cone/cone-rod dystrophyHPOHP:0000548
- NyctalopiaHPOHP:0000662
- Reduced visual acuityHPOHP:0007663
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KCNV2HGNC:19698
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: cone dystrophy with supernormal rod response
- Also called
- cone dystrophy with supernormal rod electroretinogramcone dystrophy with supernormal rod ERGcone dystrophy with supernormal scotopic electroretinogramretinal cone dystrophy type 3B