Clinical Spectrum of Congenital Optic Nerve Hvpoplasia: Review of 51 Patients

Margalith, Dov; Jan, James E.; McCormick, Andrew Q.; Tze, Wah Jun; Lapointe, Jocelyne S.

doi:10.1111/j.1469-8749.1984.tb04447.x

Cited by 95 publications

(23 citation statements)

References 38 publications

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“…The most prominent and consistently reported prenatal features of ONH are young maternal age and primiparity [18–22]. Many reports speculate that the association of young maternal age reflects an increased risk of unhealthy behavior and poor preconceptual health.…”

Section: Etiologic Correlatesmentioning

confidence: 99%

“…ONH has long been linked to recreational (e.g., LSD) or prescription (e.g., anticonvulsants, quinine, antidepressants) drugs [12, 18, 21, 24–30], viral infection [18, 31, 32], maternal diabetes [33], and alcohol use [34, 35] during pregnancy. Nearly all of these suggested etiologic correlates arose primarily from isolated exposures or case reports, providing the lowest level of evidence.…”

Section: Etiologic Correlatesmentioning

confidence: 99%

“…In 1984, Margalith et al described developmental delays in a population based study of ONH [18]. Neuropsychological handicaps were described in nearly three-fourths of cases of ONH.…”

Section: Neuropsychological Outcomesmentioning

confidence: 99%

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Optic Nerve Hypoplasia Syndrome: A Review of the Epidemiology and Clinical Associations

Garcia-Filion

Borchert

2012

Curr Treat Options Neurol

110

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Opinion statement Background Optic nerve hypoplasia (ONH) has developed into a leading cause of congenital blindness. The frequently associated features of hypopituitarism and absent septum pellucidum were felt to have embryonic linkage as “septo-optic dysplasia” or “de Morsier’s syndrome.” More recent studies have suggested these associations are independent of one another. This review provides an assessment of the historical and recent evidence linking neuroradiologic, endocrinologic and developmental morbidity in patients with ONH. The prenatal risk factors, heritability, and genetic mutations associated with ONH are described. Results Recognition of the critical association of ONH with hypopituitarism should be attributed to William Hoyt, not Georges de Morsier. De Morsier never described a case of ONH or recognized its association with hypopituitarism or missing septum pellucidum. Hypopituitarism is caused by hypothalamic dysfunction. This, and other more recently identified associations with ONH, such as developmental delay and autism, are independent of septum pellucidum development. Other common neuroradiographic associations such as corpus callosum hypoplasia, gyrus dysplasia, and cortical heterotopia may have prognostic significance. The predominant prenatal risk factors for ONH are primiparity and young maternal age. Presumed risk factors such as prenatal exposure to drugs and alcohol are not supported by scrutiny of the literature. Heritability and identified gene mutations in cases of ONH are rare. Conclusion Children with ONH require monitoring for many systemic, developmental, and even life-threatening problems independent of the severity of ONH and presence of brain malformations including abnormalities of the septum pellucidum. “Septo-optic dysplasia” and “de Morsier’s syndrome” are historically inaccurate and clinically misleading terms.

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Section: Etiologic Correlatesmentioning

confidence: 99%

Section: Etiologic Correlatesmentioning

confidence: 99%

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Optic Nerve Hypoplasia Syndrome: A Review of the Epidemiology and Clinical Associations

Garcia-Filion

Borchert

2012

Curr Treat Options Neurol

110

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“…A retrospective review of patients with optic nerve hypoplasia [13] found that 6 of 51 children (12%) had experienced NH (< 1.38 mmol/L for preterm and < 1.94 mmol/L for full term babies). However, a larger prospective study of optic nerve hypoplasia revealed that only 5 of 93 (5%) children with optic nerve hypoplasia had experienced NH [14].…”

Section: Neonatal Hypoglycaemia and Ocular Developmentmentioning

confidence: 99%

Neonatal Hypoglycaemia and Visual Development: A Review

et al. 2017

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Background: Many newborn babies experience low blood glucose concentrations, a condition referred to as neonatal hypoglycaemia (NH). The effect of NH on visual development in infancy and childhood is of interest because the occipital lobes, which include the primary visual cortex and a number of extrastriate visual areas, may be particularly susceptible to NH-induced injury. In addition, a number of case series have suggested that NH can affect eye and optic nerve development. Objective: To review the existing literature concerning the effect of NH on the visual system. Methods: A PubMed, Embase, Medline, and Google Scholar literature search was conducted using prespecified MeSH terms. Results: The literature reviewed revealed no clear evidence for an effect of NH on the development of the eye and optic nerve. Furthermore, occipital and occipital-parietal lobe injuries following NH often occurred in conjunction with comorbid conditions and were not clearly linked to subsequent visual dysfunction, possibly due to difficulties in measuring vision in young children and a lack of studies at older ages. A recent, large-scale, prospective study of NH outcomes at 2 years of age found no effect of mild-to-moderate NH on visual development. Conclusion: The effect of NH on visual development is unclear. It is currently unknown whether NH affects visual function in mid-to-late childhood when many visual functions reach adult levels.

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“…Optic nerve hypoplasia (ONH), a developmental abnormality of the optic nerves, is one of the leading causes of VI in the developed world, with a prevalence of 10.9 per 100,000 in England (2006) [4]–[6]. Children with severe or profound VI and isolated ONH are diagnosed with behavioral and developmental abnormalities at a similar rate to children with septo-optic dysplasia (SOD), who have other midline brain and/or pituitary hormone abnormalities in addition to ONH [7], [8]. However, the prevalence of behavioral difficulties in children with mild to moderate or no VI and ONH has not previously been recorded in the literature.…”

Section: Introductionmentioning

confidence: 99%

Reduced Ventral Cingulum Integrity and Increased Behavioral Problems in Children with Isolated Optic Nerve Hypoplasia and Mild to Moderate or No Visual Impairment

et al. 2013

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ObjectivesTo assess the prevalence of behavioral problems in children with isolated optic nerve hypoplasia, mild to moderate or no visual impairment, and no developmental delay. To identify white matter abnormalities that may provide neural correlates for any behavioral abnormalities identified.Patients and MethodsEleven children with isolated optic nerve hypoplasia (mean age 5.9 years) underwent behavioral assessment and brain diffusion tensor imaging, Twenty four controls with isolated short stature (mean age 6.4 years) underwent MRI, 11 of whom also completed behavioral assessments. Fractional anisotropy images were processed using tract-based spatial statistics. Partial correlation between ventral cingulum, corpus callosum and optic radiation fractional anisotropy, and child behavioral checklist scores (controlled for age at scan and sex) was performed.ResultsChildren with optic nerve hypoplasia had significantly higher scores on the child behavioral checklist (p<0.05) than controls (4 had scores in the clinically significant range). Ventral cingulum, corpus callosum and optic radiation fractional anisotropy were significantly reduced in children with optic nerve hypoplasia. Right ventral cingulum fractional anisotropy correlated with total and externalising child behavioral checklist scores (r = −0.52, p<0.02, r = −0.46, p<0.049 respectively). There were no significant correlations between left ventral cingulum, corpus callosum or optic radiation fractional anisotropy and behavioral scores.ConclusionsOur findings suggest that children with optic nerve hypoplasia and mild to moderate or no visual impairment require behavioral assessment to determine the presence of clinically significant behavioral problems. Reduced structural integrity of the ventral cingulum correlated with behavioral scores, suggesting that these white matter abnormalities may be clinically significant. The presence of reduced fractional anisotropy in the optic radiations of children with mild to moderate or no visual impairment raises questions as to the pathogenesis of these changes which will need to be addressed by future studies.

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Clinical Spectrum of Congenital Optic Nerve Hvpoplasia: Review of 51 Patients

Cited by 95 publications

References 38 publications

Optic Nerve Hypoplasia Syndrome: A Review of the Epidemiology and Clinical Associations

Optic Nerve Hypoplasia Syndrome: A Review of the Epidemiology and Clinical Associations

Neonatal Hypoglycaemia and Visual Development: A Review

Reduced Ventral Cingulum Integrity and Increased Behavioral Problems in Children with Isolated Optic Nerve Hypoplasia and Mild to Moderate or No Visual Impairment

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