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Cone-Rod Dystrophy PCARE-Associated Retinopathy
Maria Sopena-Pinilla1,2, Maria Arruebo-Muñio3, Marta Arias-Alvarez2,4
1Department of Ophthalmology, Hospital Universitario Miguel Servet, 50009 Zaragoza, Spain.
Diagnostics (Basel, Switzerland)
|July 15, 2026
Summary
Pathogenic variants in the PCARE gene cause late-onset retinitis pigmentosa (RP54) and cone-rod dystrophy. This case highlights PCARE gene variants leading to severe, progressive vision loss with macular dysfunction.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Biallelic pathogenic variants in the PCARE gene (photoreceptor cilium actin regulator) are linked to retinitis pigmentosa type 54 (RP54) and cone-rod dystrophy (CORD23).
- PCARE gene, also known as C2orf71, plays a crucial role in photoreceptor function.
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