Laura Kuehlewein1, Fadi Nasser, Nicola Gloeckle, Susanne Kohl, Eberhart Zrenner. 1. *Institute for Ophthalmic Research, Center for Ophthalmology, Eberhard Karls University, Tuebingen, Germany; †CeGaT GmbH, Tuebingen, Germany; and ‡Werner Reichardt Center for Integrative Neuroscience, Eberhard Karls University, Tuebingen, Germany.
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.
PURPOSE: To describe a case of cone dysfunctionassociated 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 albipunctatusassociated 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.
Authors: Laurence M Occelli; Anahita Daruwalla; Samantha R De Silva; Paige A Winkler; Kelian Sun; Nathaniel Pasmanter; Andrea Minella; Janice Querubin; Leslie A Lyons; Anthony G Robson; Elise Heon; Michel Michaelides; Andrew R Webster; Krzysztof Palczewski; Ajoy Vincent; Omar A Mahroo; Philip D Kiser; Simon M Petersen-Jones Journal: Hum Mol Genet Date: 2022-04-22 Impact factor: 5.121