Disease Directory Cone-Rod Dystrophy
Ophthalmological

Cone-Rod Dystrophy

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

Prevalence

1 per 30,000–40,000

Onset

First to second decade of life

Type

Autosomal recessive, autosomal dominant, X-linked

Gene

ABCA4, CNGB3, RPGR (multiple)

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 symptom Colour vision defects and colour discrimination difficulties Photophobia and hemeralopia (day blindness) Central scotomas on visual field testing Macular atrophy on fundus examination Progressive peripheral visual field loss (later in disease course) Reduced or absent cone ERG responses Nystagmus in some patients

Clinical Trial Eligibility Tips

What to know before applying to Cone-Rod Dystrophy trials.

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.

Patient Resources

Patient Organization

Foundation Fighting Blindness

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Natural History Registry

My Retina Tracker

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Orphanet

European reference resource for rare diseases (ORPHA:1872)

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NORD

National Organization for Rare Disorders

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Find recruiting Cone-Rod Dystrophy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Cone-Rod Dystrophy. Updated daily.

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