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

• Published in: Medicina (Kaunas, Lithuania) Lithuania), 2023-02, Vol.59 (2), p.399
• Main Authors: Sobolewska, Małgorzata, Świerczyńska, Marta, Dorecka, Mariola, Wyględowska-Promieńska, Dorota, Krawczyński, Maciej R, Mrukwa-Kominek, Ewa
• Format: Article
• Language: English
• Subjects: Atrophy; Cadherin Related Proteins; Case Report; Case reports; CDHR1 gene; Cone-Rod Dystrophies - genetics; Cone-Rod Dystrophies - pathology; cone–rod dystrophy; CRD; Disease; ffERG; Genes; Genetic Testing; Humans; Macular degeneration; Male; Middle Aged; Mutation; Nerve Tissue Proteins - genetics; Patients; Photoreceptors; Retina; Retinal Cone Photoreceptor Cells - pathology; Retinal Cone Photoreceptor Cells - physiology; Tomography, Optical Coherence; Visual acuity
• ISSN: 1648-9144; 1010-660X; 1648-9144
• DOI: 10.3390/medicina59020399

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. 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 few months. The best-corrected visual acuity (BCVA) at presentation was 0.4 in the right eye (RE) and 1.0 in the left eye (LE). Fundus fluorescein angiography (FFA) revealed granular hyperfluorescence in the macula and concomitant areas of capillary atrophy. Flash full-field electroretinography (ffERG) showed lowering of a and b waves as well as prolonged peak time in light-adapted conditions. However, outcomes of dark-adapted ERGs were within normal limits. Based on the constellation of clinical, angiographic, and electrophysiological tests findings, a diagnosis of IRD was suspected. Genetic testing showed a homozygous, pathogenic c.783G>A mutation in the cadherin-related family member 1 ( ) gene, which confirmed CRD type 15 (CRD15). We demonstrate the clinical characteristics, retinal imaging outcomes, and genetic test results of a patient with CRD15. Our case contributes to expanding our knowledge of the clinical involvement of the pathogenic mutation c.783G>A in variants.