FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION.

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.