An Optic Nerve Hypoplasia and Coloboma in a Patient With Hemifacial Microsomia

Abstract

Abstract. Posterior segment anomalies are rare features of the oculoauriculovertebral complex. Our patient had hemifacial microsomia with an optic nerve hypoplasia in one eye and an optic nerve coloboma in the other eye. The optic nerve hypoplasia was ipsilateral to the side with hemifacial microsomia and microtia. J Pediatr Ophthalmol Strabismus 2004;41:238-240.

Two patients with different features of congenital optic disc anomalies in the two eyes

“…Optic nerve hypoplasia is rarely associated with coloboma in the same patient [1,3]. The case of a patient with hemifacial microsomia showing optic nerve hypoplasia in the ipsilateral eye and optic nerve coloboma in the contralateral eye has been reported [5]. Optic disc/nerve hypoplasia arises from insufficient growth of retinal ganglion cells and nerve fibers [4], or retrograde nerve fiber degeneration secondary to central nervous system abnormalities [6], while excessive closure of the embryonic fissure may disturb nerve fiber projections in the optic nerve, resulting in optic disc/nerve hypoplasia [3].…”

Espectro oculoauriculovertebral: frequência de anomalias associadas

“…Outras anomalias podem estar associadas ao uso do misoprostol, tais como holoprosencefalia, fissura de lábio e/ou palato, fissura de palato, trismo, artrogripose, anomalia de Polland, anomalias de membros, pés tortos congênitos, anéis de constrição, além de microssomia hemifacial (GONZALEZ et al, 1993;GONZALEZ et al, 1998;CASTILLA, 2000;BARBERO et al, 2011;VAUZELLE et al, 2013). Vauzelle et al (2013) ROLLNICK;KAYE, 1983;ROLLNICK et al, 1987;ROLLNICK;KAYE et al, 1989;KAYE et al, 1992 As anomalias oculares descritas em EOAV incluem coloboma de pálpebra superior, coloboma de íris, coloboma de nervo óptico, ptose palpebral, órbita mal posicionada, obstrução ou estenose do canal lacrimal, micro/anoftalmia, anomalias de córnea, catarata, glaucoma, estrabismo e dermóide epibulbar (COHEN, 1971;MANSOUR et al, 1985;ROLLNICK et al, 1987;ROLLNICK;MENON;CHAUDHURI;SAXENA, 2004;BECK et al, 2005;HON;AU, 2005).…”