Giancipoli G, Guerriero S, Leozappa M, Carella Aristide, Epifani E, Di Cuonzo F, Lasalandra C
Ophthalmic Surg Lasers Imaging. 2010 Mar 9:1-3. doi: 10.3928/15428877-20100215-08.
A 15-year-old boy underwent neurological and ophthalmological evaluation. At birth, a severe bilateral microphthalmia, micropenis, and scrotal hypoplasia were diagnosed. Ophthalmologic examination showed right anophthalmia and severe left microphthalmia. Radiological examination showed normal orbital and skull structures. Magnetic resonance imaging (MRI), revealed the absence of the right eye, left microphthalmia, optic nerve hypoplasia, aplasia of the optic chiasm, and tracts. Audiometric examination and electroencephalogram were normal. There was no mental retardation. The chromosomal examination was normal. The patient is examination was also negative for any type of known risk factors.
一名15岁男孩接受了神经科和眼科评估。出生时，诊断出患有严重的双侧小眼症、小阴茎和阴囊发育不全。眼科检查显示右眼无眼球，左眼严重小眼症。放射学检查显示眼眶和颅骨结构正常。磁共振成像（MRI）显示右眼缺失、左眼小眼症、视神经发育不全、视交叉和视束发育不全。听力检查和脑电图正常。无智力发育迟缓。染色体检查正常。该患者的检查也未发现任何已知危险因素。
