title: Bilateral optic nerve aplasia: a rare isolated central nervous system anomaly.
abstract: Optic nerve (ON) aplasia is a rare developmental anomaly comprising of absence of the ON, ganglion cells and the central retinal vessels. It is usually accompanied by a variety of central nervous system (CNS) malformations. We report an extremely rare case of bilateral true ON aplasia occurring as an isolated CNS anomaly. A 10-month-old female child was detected with bilateral absence of fixation, associated with multiple ocular findings of microcornea, anterior embryotoxon, pupillary corectopia, partial aniridia and lens coloboma. The optic disc locations were visible as avascular whitish areas. There were no retinal vessels seen in the disc area or elsewhere. There were bilateral multiple chorioretinal atrophic patches present. B-scan ultrasonography showed bilateral absence of ONs. Magnetic resonance imaging showed thinned out bilateral ONs with a hypoplastic optic chiasma and optic tract. There were no other CNS anomalies. Flash visually evoked potential was unrecordable.
authors.affiliation: Department of Ophthalmology, Bharati Hospital and Research Centre, BVD University Medical College, Pune, Maharashtra, India.
authors.forename: Tejaswini P
authors.initials: TP
authors.lastname: Khandgave
authors.affiliation: Department of Ophthalmology, Bharati Hospital and Research Centre, BVD University Medical College, Pune, Maharashtra, India.
authors.forename: Varsha N
authors.initials: VN
authors.lastname: Kulkarni
authors.affiliation: Department of Ophthalmology, Bharati Hospital and Research Centre, BVD University Medical College, Pune, Maharashtra, India.
authors.forename: Deepa V
authors.initials: DV
authors.lastname: Muzumdar
authors.affiliation: Department of Ophthalmology, Bharati Hospital and Research Centre, BVD University Medical College, Pune, Maharashtra, India.
authors.forename: Neelam
authors.initials: N
authors.lastname: Puthran
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009897:Optic Chiasm / Q000002:abnormalities; D009898:Optic Disk / Q000002:abnormalities*; D009901:Optic Nerve Diseases / Q000175:diagnosis*; D012171:Retinal Vessels / Q000002:abnormalities*
keywords: Aniridia; Anterior Embryotoxon; Coloboma; Corectopia; Microcornea; Optic Nerve Aplasia
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