Neuroradiographic, Endocrinologic, and Ophthalmic Correlates of Adverse Developmental Outcomes in Children With Optic Nerve Hypoplasia: A Prospective Study

Garcia-Filion, Pamela; Epport, Karen; Nelson, Marvin D.; Azen, Colleen; Geffner, Mitchell E.; Fink, Cassandra; Borchert, Mark

doi:10.1542/peds.2007-1825

Cited by 92 publications

(132 citation statements)

References 35 publications

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“…Previously reported prevalence rates of PHD in patients with ONH vary between 26 and 82% and have been increasing since 1980 [14], with GH deficiency and TSH being the most prevalent PHDs [6, 9, 13, 15, 16]. We report a PHD prevalence of almost 50% among patients with ONH.…”

Section: Discussionmentioning

confidence: 56%

“…Current studies, although cross-sectional in design, point to an increased risk of developing pituitary hormone deficiencies when structural abnormalities of the pituitary gland are present [9, 10], as well as ophthalmologic factors such as bilateral ONH and blindness [2, 11]. Neurodevelopmental issues, including seizures, autism, and behavioral difficulties, may also occur more frequently in children with ONH [2, 12, 13]. Clinically however, it is challenging to identify which patients affected by ONH will develop PHD, or when in their lifetime this will occur.…”

Section: Introductionmentioning

confidence: 99%

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Pituitary Dysfunction in Pediatric Patients with Optic Nerve Hypoplasia: A Retrospective Cohort Study (1975–2014)

et al. 2017

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Background/Aims: The risk factors for pituitary hormone dysfunction (PHD) in children with optic nerve hypoplasia (ONH) are not well understood. This study identified the type, timing, and predictors of PHD in children with ONH. Methods: ONH patient charts were reviewed retrospectively. The incidence rate of PHD was calculated assuming a Poisson distribution. Predictors of PHD were identified through a multivariable Cox proportional hazards model. Results: Among 144 subjects with ONH, 49.3% (n = 71) developed PHD over 614.7 person-years of follow-up. The incidence was 11.55 (95% confidence interval [CI]: 9.02–14.57/100 person-years). The median time to first PHD was 2.88 (interquartile range: 0.02–18.72) months. Eighty-two percent developed their first PHD by their 5th and 90% by their 10th birthday, and 89% within 5 years of ONH diagnosis. Prematurity (adjusted hazard ratio [aHR]: 0.33; 95% CI: 0.1–1.07), blindness (aHR: 1.72; 95% CI: 1.03–2.86), maternal substance abuse (aHR: 1.51; 95% CI: 0.91–2.48), abnormal posterior pituitary (aHR: 3.8; 95% CI: 2.01–7.18), and hypoplastic/absent anterior pituitary (aHR: 2.52; 95% CI: 1.29–4.91) were significant predictors of PHD. Conclusions: The clinical predictors of PHD included blindness, pituitary gland abnormalities, and maternal substance abuse. These predictors help clinical decision-making related to the need for and frequency of hormone testing in pediatric patients with ONH.

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Section: Discussionmentioning

confidence: 56%

Section: Introductionmentioning

confidence: 99%

Pituitary Dysfunction in Pediatric Patients with Optic Nerve Hypoplasia: A Retrospective Cohort Study (1975–2014)

et al. 2017

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“…The more consistent association with optic hypoplasia is cortical dysgenesis and hypopituitarism. 17,18 Pituitary dysfunction was routinely identified (83%) in this subset of patients. Most interesting, a genetic link may be present between Kallmann syndrome and optic hypoplasia syndrome with loss-offunction mutations in PROKR2 found in both.…”

Section: Discussionmentioning

confidence: 92%

Spectrum of Clinical and Associated MR Imaging Findings in Children with Olfactory Anomalies

Booth

Rollins

2016

American Journal of Neuroradiology

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“…Methods for enrollment and comprehensive data collection in the study have been previously described. 2,3 Registry participants undergo baseline fundus photography while sedated with chloral hydrate at an age of o24 months. Subjects returning for their final registry visit at age 60 months between April 2009 and December 2011, who were able to cooperate with unsedated fundus photography, were asked to participate in this study by undergoing a second set of fundus photography.…”

Section: Methodsmentioning

confidence: 99%

“…It is often associated with endocrine dysfunction, delays in neurocognitive development, seizures, autism, dysregulation of the hypothalamus, and neurological abnormalities. [2][3][4] Optic nerve size is used to approximate severity of disease and vision potential in children with ONH. 5 This can be done subjectively through indirect ophthalmoscopy or objectively by measuring the relative optic disk size on fundus photography.…”

Section: Introductionmentioning

confidence: 99%

Absence of age-related optic disk changes in young children with optic nerve hypoplasia

Garcia-Filion

Fink

et al. 2014

Eye

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Purpose To determine whether the ratio of optic disk diameter to disk-to-macula distance (DD/DM) in children with optic nerve hypoplasia (ONH) changes over time.Patients and methods Fifteen subjects (29 eyes) enrolled in a prospective registry study on ONH had fundus photography performed under the age of 24 months and again at 60 months. Using the ratio of the DD/DM method, the relative size of the optic disk was assessed twice for each photo by one masked expert examiner to determine whether any change in relative disk size occurred over time.Results There was no change in relative optic disk size between initial and final fundus photographs. The average ( ± SD) age at the time of initial and final fundus photography was, respectively, 11.6±5.2 months and 60.6±1.3 months. Strong concordance was noted between the average DD/DM of the initial and the final photographs (r ¼ 0.939; 95% CI: 0.893, 0.981). There was negligible difference between the individual time point measurements ( À 0.011±0.03) (95% LOA: À 0.07, 0.04). Conclusion There were no clinically significant changes in relative optic disk size over time in children with ONH; thus, DD/ DM measurements need not be adjusted by age beyond 1 year in children with this disorder.

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Neuroradiographic, Endocrinologic, and Ophthalmic Correlates of Adverse Developmental Outcomes in Children With Optic Nerve Hypoplasia: A Prospective Study

Cited by 92 publications

References 35 publications

Pituitary Dysfunction in Pediatric Patients with Optic Nerve Hypoplasia: A Retrospective Cohort Study (1975–2014)

Pituitary Dysfunction in Pediatric Patients with Optic Nerve Hypoplasia: A Retrospective Cohort Study (1975–2014)

Spectrum of Clinical and Associated MR Imaging Findings in Children with Olfactory Anomalies

Absence of age-related optic disk changes in young children with optic nerve hypoplasia

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