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Clinical Validation of a CRX Variant Leading to a Cone-Rod Dystrophy

Camila Pagán-Melvin1, Natalio Izquierdo2, Karla C Alejandro2

  • 1Ophthalmology, Universidad Central del Caribe, Bayamon, PRI.

Cureus
|March 17, 2026
PubMed
Summary

Cone-rod dystrophy (CORD) caused by CRX gene mutations leads to vision loss. Accurate diagnosis relies on correlating patient symptoms with genetic findings, especially for CRX variants.

Keywords:
cone-rod dystrophycrx genegenotype-phenotype correlationinherited retinal dystrophyvariant reclassification

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