Bilateral detachment of the macular neuroepithelium in a patient with Klinefelter syndrome.
OBJECTIVE
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.
van Haarlem
J
J
Institute of Ophthalmology, University Medical Centre Nijmegen, Nijmegen, The Netherlands. john_van_haarlem@hotmail.com
Cruysberg
J R M
JR
Deutman
A F
AF
D000328:Adult; D003937:Diagnosis, Differential; D005451:Fluorescein Angiography; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D008297:Male; D012163:Retinal Detachment / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology