Ophthalmological

Cone-Rod Dystrophy

Also known as CRD, cone-rod degeneration, progressive cone dystrophy

Cone-Rod Dystrophy is a group of inherited retinal dystrophies in which cone photoreceptors are affected first and more severely than rods, distinguishing CRD from the rod-dominant pattern of retinitis pigmentosa. Patients typically present

ORPHA:1872 ↗Gene ABCA4Gene CNGB3Gene RPGR (multiple)Prevalence 1 per 30,000–40,000Onset First to second decade of lifeAutosomal recessive, autosomal dominant, X-linked

13

studies recruiting now

as of 7 Sept 2026

44

studies registered in total

as of 7 Sept 2026

5

countries with a recruiting site

as of 7 Sept 2026

14 Jan 2026

most recent study posted

among recruiting studies

Recruiting trials

Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.

See all 13 recruiting studies

Where recruiting studies are running

Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.

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About Cone-Rod Dystrophy

Cone-Rod Dystrophy is a group of inherited retinal dystrophies in which cone photoreceptors are affected first and more severely than rods, distinguishing CRD from the rod-dominant pattern of retinitis pigmentosa. Patients typically present in the first or second decade with decreased visual acuity and colour vision disturbances, followed by increasing photophobia and progressive peripheral vision loss as rod dysfunction develops. Genetic causation is highly heterogeneous, with pathogenic variants identified in over 30 genes, and clinical overlap with Stargardt disease (ABCA4-related CRD) and achromatopsia is common.

Common clinical features

Decreased central visual acuity, often the presenting symptomColour vision defects and colour discrimination difficultiesPhotophobia and hemeralopia (day blindness)Central scotomas on visual field testingMacular atrophy on fundus examinationProgressive peripheral visual field loss (later in disease course)Reduced or absent cone ERG responsesNystagmus in some patients

From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.

Before you apply

Things trial teams commonly ask about for Cone-Rod Dystrophy. Not eligibility rules; those are set by each study.

  • A comprehensive retinal gene panel is essential before trial screening, as CRD is caused by many different genes and each trial targets a specific genetic defect.
  • ERG findings distinguishing cone-primary vs. rod-primary dystrophy are used for eligibility confirmation; ensure recent electrophysiology records are available.
  • Visual acuity eligibility windows are narrow in many trials; do not delay screening referral if your acuity is declining.

Related conditions

Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).