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Article

A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy.

Ophthalmic genetics - 1 Dec 2021

Mermeklieva Elena, Kamenarova Kunka, Mihova Kalina, Shakola Felitsiya, Kaneva Radka

Abstract excerpt

AIM: To present a rare clinical case of CDHR1-related retinopathy with cone and rod involvementconfirmed clinically, electrophysiologically and genetically as a cone-rod dystrophy. MATERIAL AND METHODS: A 26-year-old woman underwent detailed ophthalmic examinationincluding fundus photography, full-field and multifocal electroretinography, visual field testing, optical coherence tomography and fluorescein...

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PMID: 34229535
DOI: 10.1080/13816810.2021.1946700

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