FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION. (2017)

• Record Type: Journal Article
• Authors: Kuehlewein, Laura; Nasser, Fadi; Gloeckle, Nicola; Kohl, Susanne; Zrenner, Eberhart
• Is Part Of: Retinal cases & brief reports. Volume 11(2017:Winter)Supplement 1
• Publication Date: 2017
• Subjects: cone dysfunction -- electroretinography -- fundus albipunctatus -- RDH5; Retina -- Diseases -- Periodicals; Retina -- Periodicals; Retinal Diseases -- Periodicals; Retina -- Case Reports; Retinal Diseases -- Case Reports; 617.7
• DOI: 10.1097/ICB.0000000000000420
• Languages: English
• ISSNs: 1935-1089

Abstract

Abstract : Purpose: To describe a case of cone dysfunction associated with fundus albipunctatus. Methods: This report is an observational case report. The examination included multimodal imaging, electrophysiological recordings after standard and prolonged dark adaption, and disease targeted gene panel sequencing. Results: In this report, the authors present a 55-year-old Chinese male with findings on fundus examination, optical coherence tomography, and full-field electroretinography after standard and prolonged dark adaption consistent with fundus albipunctatus associated with cone dysfunction. Disease targeted gene panel sequencing revealed two heterozygous mutations in RDH5 (c.124C>T; p.Arg42Cys and c.500G>A; p.Arg167His). Conclusion: The authors report the case of a patient with ophthalmic findings characteristic for cone dysfunction in the setting of genetically confirmed fundus albipunctatus. Abstract : The authors report a case of a patient with ophthalmic findings characteristic for cone dysfunction in the setting of genetically confirmed fundus albipunctatus.