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
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
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