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CDHR1-Related Cone-Rod Dystrophy: Clinical Characteristics, Imaging Findings, and Genetic Test Results-A Case Report.

Medicina (Kaunas, Lithuania) - 17 Feb 2023

Sobolewska Małgorzata, Świerczyńska Marta, Dorecka Mariola, Wyględowska-Promieńska Dorota, Krawczyński Maciej R, Mrukwa-Kominek Ewa

Abstract excerpt

Background: Cone-rod dystrophies (CRDs) are a heterogeneous group of inherited retinal diseases (IRDs) characterized by cone photoreceptor loss, that is followed by subsequent rod photoreceptor impairment. Case presentation: A 49-year-old man complaining of diminution of vision in both eyes (OU) was referred to our outpatient clinic. He reported visual loss for 5 years, but it was most progressive during the last...

Topics

Male
Humans
Middle Aged
Cone-Rod Dystrophies
Tomography, Optical Coherence
Retina
Retinal Cone Photoreceptor Cells
Mutation
Genetic Testing
Cadherin Related Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nerve Tissue Proteins

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Identifiers

PMID: 36837600
DOI: 10.3390/medicina59020399
PMCID: PMC9966332

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