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Bilateral Microphthalmia with Optic Nerve Hypoplasia and Achiasmia. 2010

G Giancipoli, and S Guerriero, and M Leozappa, and Aristide Carella, and E Epifani, and F Di Cuonzo, and C Lasalandra

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.

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