Retinal cases & brief reports · 2017
FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION.
Клинический случайСтатьяНаблюдательное исследованиеНазвание и аннотация: Перевод пока не подготовлен
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Kuehlewein Laura, Nasser Fadi, Gloeckle Nicola, Kohl Susanne, Zrenner Eberhart
Аннотация
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.
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.