Bilateral detachment of the macular neuroepithelium in a patient with Klinefelter syndrome

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.