Optic Nerve Hypoplasia

Brodsky, Michael C.; Glasier, Charles M.

doi:10.1001/archopht.1993.01090010070029

Cited by 181 publications

(35 citation statements)

References 30 publications

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“…Colour vision was relatively preserved in both, despite congenitally anomalous optic discs [24]. The small optic discs with a spectrum of appearances, found in the current case report, could be associated with a variety of malformations involving central nervous system [22,23,25]. In both children there was no evidence of see-saw nystagmus previously believed to be characteristic in achiasmia [1,2], or associated with other midline abnormalities.…”

Section: Discussionsupporting

confidence: 46%

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VEP asymmetry with ophthalmological and MRI findings in two achiasmatic children

et al. 2007

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Achiasmia is a rarely diagnosed visual pathway maldevelopment where all or the majority of nasal retinal fibres fail to decussate at the optic chiasm. It has been identified by neuroimaging and also by visual evoked potential (VEP) asymmetry. VEP asymmetry has not been defined consistently in previous studies. The aim was to study VEP asymmetry to flash stimulation in two children with maldevelopment of the optic chiasm in comparison to control children. Both children had congenital nystagmus, optic nerve hypoplasia with a bilateral small double ring, bitemporal visual field defect and normal colour vision. In child 1 visual acuity in both eyes was 0.1, in child 2 it was 0.2. MRI showed reduced chiasmal size in child 1, while in child 2 it was combined with other midline abnormalities. VEP to monocular flash stimulation showed in both children distinctive occipital distribution, which was not observed in control children. The N2 wave was distributed asymmetrically over the ipsilateral hemisphere to the stimulated eye, while the P2 wave was distributed over both hemispheres. The P2 wave was however better defined over the ipsilateral hemisphere. Flash VEP occipital distribution remained similar in child 1, who was followed from 10 months to 9 years. These cases of achiasmia demonstrate a distinctive VEP asymmetry in the distribution of the flash VEP N2 wave, as well as the expected structural defect determined by neuroimaging.

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Section: Discussionsupporting

confidence: 46%

“…Their ophthalmological findings and function were stable and in correlation with moderate optic nerve hypoplasia [22,23]. Both children in this study have useful vision especially for reading.…”

Section: Discussionmentioning

confidence: 53%

VEP asymmetry with ophthalmological and MRI findings in two achiasmatic children

et al. 2007

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“…Neurological deficit is common ranging from global retardation to focal deficits such as epilepsy or hemiparesis [4, 5], with other features including cavum septum pellucidum, cerebellar hypoplasia, schizencephaly and aplasia of the fornix. Approximately 75–80% of patients exhibit ONH, which may be unilateral or bilateral although bilateral involvement is more common (88% as compared with 12% unilateral cases) and may be the first presenting feature with later onset of endocrine dysfunction [6,7,8,9]; in rare cases, the eye abnormality may be more severe, resulting in microphthalmia or anophthalmia. Pituitary hypoplasia may manifest as variable endocrine deficits ranging from isolated growth hormone (GH) deficiency to panhypopituitarism, and there has been a suggestion that abnormalities of the septum pellucidum and hypothalamo-pituitary axis on neuroimaging can predict the severity of endocrine dysfunction [10].…”

Section: Septo-optic Dysplasiamentioning

confidence: 99%

Septo-Optic Dysplasia – Novel Insights into the Aetiology

Kelberman¹,

Dattani²

2008

Horm Res Paediatr

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Septo-optic dysplasia (SOD) is a highly heterogeneous condition comprising a variable phenotype of optic nerve hypoplasia, midline brain abnormalities and pituitary hypoplasia with consequent endocrine deficits. The majority of cases are sporadic and several aetiologies have been suggested to account for the pathogenesis of the condition. However, a number of familial cases have been described and the identification of mutations in key developmental genes including HESX1, SOX2 and SOX3 in patients with SOD and associated phenotypes suggests that a genetic causation is likely in the more common sporadic cases of the condition. The precise aetiology of SOD is most likely multifactorial involving contributions from environmental factors in addition to an important role for crucial developmental genes. The variability of the penetrance and phenotypes within a single SOD pedigree may also suggest a complex interaction between genetics and the environment, and at present, the understanding of these interactions is rudimentary. Further study of these critical factors may shed light on the aetiology of this complex disorder. We have reviewed recent literature selecting relevant references based on the keywords HESX1, SOX2, SOX3, Septo-optic dysplasia, genetics and pituitary development.

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“…However, several investigators have reported that dysplasia of the ipsilateral optic tract and radiation was present in cases of optic nerve hypoplasia. [10][11][12][13] These cases differ from our case because the optic tract dysplasia was present only on the contralateral side in our case.…”

Section: Discussionmentioning

confidence: 74%

Unilateral Optic Nerve Hypoplasia with Contralateral Optic Pathway Hypoplasia: A Case Report

Nishi¹,

Yukawa²,

Taoka

et al. 2013

Neuro-Ophthalmology

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Optic nerve hypoplasia is diagnosed by the ophthalmoscopic appearance of the fundus of the eye and by standard magnetic resonance imaging of the brain. The ability to study eyes with optic nerve hypoplasia by magnetic resonance diffusion tensor imaging has improved the evaluation of the optic pathways. The authors report a case of unilateral optic nerve hypoplasia with hypoplasia of the contralateral optic pathway. The entire visual pathway of this patient was examined by magnetic resonance and magnetic resonance diffusion tensor imaging. The images show a decrease of the volume of the optic radiation contralateral to the optic nerve abnormality and also pre-and post-chiasmal abnormalities.

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Optic Nerve Hypoplasia

Cited by 181 publications

References 30 publications

VEP asymmetry with ophthalmological and MRI findings in two achiasmatic children

VEP asymmetry with ophthalmological and MRI findings in two achiasmatic children

Septo-Optic Dysplasia – Novel Insights into the Aetiology

Unilateral Optic Nerve Hypoplasia with Contralateral Optic Pathway Hypoplasia: A Case Report

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