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PURPOSE: To describe the trans-occipital asymmetries of pattern and flash visual evoked potentials (VEPs), in an infant with MRI findings of unilateral optic nerve aplasia and hemi-chiasm dysplasia. METHODS: A child with suspected left cystic microphthalmia, left microcornea, left unilateral optic nerve aplasia, and hemi-chiasm underwent a multi-channel VEP assessment with pattern reversal, pattern onset, and flash stimulation at the age of 16 weeks. RESULTS: There was no VEP evidence of any post-retinal visual pathway activation from left eye with optic nerve aplasia. The VEP trans-occipital distribution from the functional right eye was skewed markedly across the midline, in keeping with significant misrouting of optic nerve fibres at the chiasm. This was supported by the anatomical trajectory of the optic chiasm and tracts seen on MRI. CONCLUSION: This infant has chiasmal misrouting in association with unilateral optic nerve aplasia and unilateral microphthalmos. Chiasmal misrouting has not been found in patients with microphthalmos or anophthalmos, but has been reported after early eye loss in animal models. Our findings contribute to our understanding of the discrepancy between the visual pathway physiology of human unilateral microphthalmia and animal models.

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Optic nerve (ON) aplasia is a rare congenital anomaly. It is characterised by the absence of optic nerve, nerve fibre layer, ganglion cells, and retinal blood vessels. ON aplasia is usually unilateral. Bilateral cases are very rare. We report such a rare case with bilateral ON aplasia and corpus callosum hypogenesis. An 11-month-old male child presented with a history of not seeing or following objects since birth. On examination, the child had microcornea and the absence of an optic disc in both the eyes. In addition, the right eye showed partial aniridia and few rudimentary retinal vessels in the posterior pole, while the left eye showed a chorioretinal coloboma but no evidence of any retinal blood vessels. Flash visual evoked potential was nonrecordable in both the eyes. MRI brain and orbit showed congenital aplasia of the ON on both sides with poorly developed optic chiasm, optic tract, and lateral geniculate body along with the features of corpus callosum hypogenesis. Child had no other systemic or endocrinological abnormalities.

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Optic nerve aplasia (ONA) is a rare congenital anomaly with a limited number of published reports. A retrospective review was performed on seven patients with ONA seen during 2004-2017. Patient's ocular and extraocular manifestations, imaging findings, and clinical course were described. Magnetic resonance imaging (MRI) showed anomalies of the optic chiasm and tracts and other central nervous system involvement. In conclusion, in addition to thorough ophthalmic examinations, MRI is important in evaluating and diagnosing ONA. The patients need to be monitored for both ocular and extraocular concerns.

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PURPOSE: To report three cases of optic nerve aplasia (ONA). CASE REPORT: Herein three subjects with ONA are described, two subjects had unilateral involvement. In one of these cases, the fellow eye had an associated persistent hyperplastic primary vitreous (PHPV). The third patient had bilateral ONA with multiple intracranial anomalies. Previous reports are reviewed and reported findings are summarized. Orbital and brain magnetic resonance imaging (MRI) were normal in two of our cases and loss of corpus callosum in the third case. Narrow optic nerve was observed on the right side and normal appearance in other two patients. CONCLUSION: The diagnosis of optic nerve abnormalities in children requires a thorough ophthalmic examination and proper ancillary testing. Although MRI is valuable in the diagnosis of associated central nervous system anomalies, the optic nerve may appear in normal size and course on MRI images and thus one may not be able to diagnose ONA in eyes with opaque media.

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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.

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Anophthalmos associated with optic nerve aplasia in the contralateral eye is extremely rare. To our knowledge, this is the first case report in Korea. A 3-day-old girl had anophthalmos in the right eye and optic nerve aplasia in the left. Except for the ocular findings, she was relatively healthy. Her sibling had also anophthalmos and expired 4 days after birth. But we could not take her siblings history in detail. We report this case with a brief review of literatures.

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