Optic Nerve Aplasia in an Infant With Congenital Hypopituitarism andPosterior Pituitary Ectopia

Unilateral optic nerve aplasia associated with rudimental retinal vasculature

“…It is remarkable that our patient shows some rudimental vessels at the posterior pole of the eye, whereas most previous cases appearing in the literature usually report a complete absence of retinal vasculature. In one case, ONA was associated with a cluster of aberrant vessels occupying the normal position of the optic disk [6]. Contrarily, in our patient, several vessels enter the posterior pole at different locations without any specific pattern of distribution.…”

“…ONA is a rare congenital anomaly frequently associated with ocular [3,4] and central nervous system malformation [5][6][7]. Its pathogenesis is still controversial: one of the first theories proposed to explain ONA was the failure of mesodermal element development [11,12], but this hypothesis cannot explain cases in which a dural sheath enters the posterior part of the globe without axons inside.…”

“…It can be associated with other ocular malformations such as microphthalmos, cataract, anterior chamber anomaly, hyperplastic persistent primary vitreous, and retinal dysplasia [3,4]. In bilateral cases, associated malformations of the central nervous system are frequently reported and might include hydranencephaly, meningoencephalocele, or septo-optic dysplasia [5][6][7]. ONA seems to differ from optic nerve hypoplasia (ONH), which is a frequently bilateral malformation characterized by the small size of the optic disk with a diminished number of optic nerve fibers and a normal appearance of the retinal vessels [8,9].…”

Bilateral optic nerve aplasia: A rare isolated central nervous system anomaly

“…ON aplasia cases are generally associated with multiple CNS anomalies such as hydrancephaly and hypopituitarism 78. Our patient had a platycephaly, which was not accompanied by any CNS abnormalities other than ON aplasia.…”

Bilateral aplasia of the optic nerve, chiasm, and tracts in an otherwise healthy infant

“…[5][6][7] Active chorioretinal lesions, vitreous haemorrhage, and retinal detachment are noted infrequently. 8 Anterior segment involvement is presumably caused by inadequate control of normal flora, whereas the chorioretinal lesions are hypothesised to be the sequelae of infectious microemboli or granulomas.…”