Purpose: To describe the occurrence of atypical, bilateral detachment of the macular neuroepithelium and Klinefelter syndrome in a young patient.
Methods: Case report.
Results: A 20-year-old male of Chinese origin with karyotype 47,XXY presented with bilateral central neurosensory retinal detachment. There was spontaneous improvement.
Conclusions: An atypical form of detachment of the macular neuroepithelium was seen in a young patient with Klinefelter syndrome. The pathophysiological mechanism is not clear. The possibility of a hormonal imbalance is discussed. A differential diagnostic consideration is central serous chorioretinopathy and a mild form of Vogt-Koyanagi-Harada syndrome. This case is of interest because of the rarity of association between Klinefelter syndrome and chorioretinal abnormalities.