FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION
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Published on: August 15, 2025
Laura Kuehlewein1, Fadi Nasser, Nicola Gloeckle
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.
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.
