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Mark Borchert - One of the best experts on this subject based on the ideXlab platform.
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orbital mri versus fundus photography in the diagnosis of Optic Nerve Hypoplasia and prediction of vision
British Journal of Ophthalmology, 2020Co-Authors: Jacqueline Kruglyakova, Marvin D Nelson, Pamela Garciafilion, Mark BorchertAbstract:Introduction In patients with Optic Nerve Hypoplasia (ONH), the visualisation of the Optic disc can be challenging and the definitive diagnosis difficult to ascertain without fundus photography. The use of MRI for diagnosis has been reported as a diagnostic alternative with conflicting results. We retrospectively analysed a disease registry to determine the reliability of orbital MRI measurements of the Optic Nerve diameter to diagnose ONH, and the correlation with vision outcomes. Materials and methods From a cohort of 140 patients with ONH (13% unilateral) that had reached age 5 years, we identified 43 subjects who had orbital MRI in addition to fundus photography performed prior to 2 years of age. We compared measurements of the Optic Nerve diameter from orbital MRI scans to the standard relative Optic disc size (disc diameter/disc-macula (DD/DM) distance) by fundus photography. All patients had visual acuity tested at age 5 years. Spearman’s correlation coefficient was used to determine the correlation of orbital MRI measurements and fundus photography with the diagnosis of ONH, and with vision outcomes. Results Relative disc size (DD/DM) Discussion Orbital Optic Nerve diameter from MRI scans has moderate reliability in diagnosing ONH and predicting vision outcomes. Fundus photography for measurements of the Optic Nerve size should remain the reference for diagnostic confirmation of ONH. These data further support the prognostic value of fundus photography for eventual vision outcomes in this population.
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brain malformations do not predict hypopituitarism in young children with Optic Nerve Hypoplasia
Hormone Research in Paediatrics, 2017Co-Authors: Pamela Garciafilion, Cassandra Fink, Marvin D Nelson, Mitchell E Geffner, Hashem Almarzouki, Mark BorchertAbstract:Background: Optic Nerve Hypoplasia (ONH), a leading cause of pediatric blindness, is associated with brain malformations and hypopituitarism in the constellation known as septo-Optic dysplasia. Neuroimaging is used to anticipate hypopituitarism, but with unconfirmed reliability. We report prospective findings on the association of hypopituitarism with brain malformations. Methods: Children ( n = 146; 87% bilateral) underwent baseline MRI and annual examinations and hormonal testing. Hypopituitarism status at age 5 years was classified. Results: A total of 74% had brain malformation(s). Hypopituitarism (69%) was not associated with brain malformations ( p = 0.351); this persisted after adjusting for the laterality of ONH and the timing of MRI ( p adj = 0.869). No association was noted for absent septum pellucidum (38%; p = 0.073), corpus callosum abnormality (51%; p = 0.625), and major malformations (22%; p = 0.407). A malformation conferred a positive predictive value of 71% (95% CI: 62%, 80%), and a negative predictive value of 37% (95% CI: 22%, 54%). Overall, 10% ( n = 15) of the cohort presented with a triad of absent septum pellucidum, corpus callosum abnormality, and other major malformation; only half ( n = 8) of these had hypopituitarism. All 13 subjects with pituitary malformations manifested hypopituitarism, conferring predictive values of 100% (positive) and 34% (negative). Conclusions: Hypopituitarism and brain malformations are highly prevalent, but have unrelated associations with ONH. Brain MRI in infants and toddlers with ONH is an unreliable screen for hypopituitarism risk.
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comparison of human expert and computer automated systems using magnitude squared coherence msc and bootstrap distribution statistics for the interpretation of pattern electroretinograms pergs in infants with Optic Nerve Hypoplasia onh
Documenta Ophthalmologica, 2015Co-Authors: Mark Borchert, Cassandra Fink, Pamela Garciafilion, Daphne L Mcculloch, A C FisherAbstract:Purpose Pattern electroretinograms (PERGs) have inherently low signal-to-noise ratios and can be difficult to detect when degraded by pathology or noise. We compare an objective system for automated PERG analysis with expert human interpretation in children with Optic Nerve Hypoplasia (ONH) with PERGs ranging from clear to undetectable.
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Hypothalamic dysfunction without hamartomas causing gelastic seizures in Optic Nerve Hypoplasia.
Journal of child neurology, 2014Co-Authors: Cassandra Fink, Mark Borchert, Carrie Zaslow Simon, Clifford B. SaperAbstract:This report describes gelastic seizures in patients with Optic Nerve Hypoplasia and hypothalamic dysfunction without hypothalamic hamartoma. All participants (n = 4) from the Optic Nerve Hypoplasia registry study at Children’s Hospital Los Angeles presenting with gelastic seizures were included. The clinical and pathology characteristics include hypothalamic dysgenesis and dysfunction, but no hamartomas. Optic Nerve Hypoplasia is the only reported condition with gelastic seizures without hypothalamic hamartomas, suggesting that hypothalamic disorganization alone can cause gelastic seizures.
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prenatal determinants of Optic Nerve Hypoplasia review of suggested correlates and future focus
Survey of Ophthalmology, 2013Co-Authors: Pamela Garciafilion, Mark BorchertAbstract:Optic Nerve Hypoplasia (ONH), a congenital malformation characterized by an underdeveloped Optic Nerve, is a seemingly epidemic cause of childhood blindness and visual impairment with associated lifelong morbidity. Although the prenatal determinants of ONH are unknown, early case reports have led to a longstanding speculation that risky health behaviors (e.g., prenatal use of recreational drugs, alcohol) are a likely culprit. There has yet to be a systematic review of the epidemiology of ONH to assess the common prenatal features that may help focus research efforts in the identification of likely prenatal correlates. A review of the past 50 years of epidemiologic research was conducted to examine the prenatal features linked with ONH and provide direction for future research. There are select prominent prenatal features associated with ONH: young maternal age and primiparity. Commonly implicated prenatal exposures (recreational or pharmaceutical drugs, viral infection, etc.) were rare or uncommon in large cohort studies of ONH and therefore unlikely to be major contributors to ONH. Familial cases and gene mutations are rare. The preponderance of young mothers and primiparity among cases of ONH is striking, although the significance is unclear. Recent research suggests a potential role for prenatal nutrition, weight gain, and factors of deprivation. With the rapidly increasing prevalence of ONH, future research should focus on investigating the relevance of young maternal age and primiparity and exploring the recently suggested etiologic correlates in epidemic clusters of ONH.
Pamela Garciafilion - One of the best experts on this subject based on the ideXlab platform.
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orbital mri versus fundus photography in the diagnosis of Optic Nerve Hypoplasia and prediction of vision
British Journal of Ophthalmology, 2020Co-Authors: Jacqueline Kruglyakova, Marvin D Nelson, Pamela Garciafilion, Mark BorchertAbstract:Introduction In patients with Optic Nerve Hypoplasia (ONH), the visualisation of the Optic disc can be challenging and the definitive diagnosis difficult to ascertain without fundus photography. The use of MRI for diagnosis has been reported as a diagnostic alternative with conflicting results. We retrospectively analysed a disease registry to determine the reliability of orbital MRI measurements of the Optic Nerve diameter to diagnose ONH, and the correlation with vision outcomes. Materials and methods From a cohort of 140 patients with ONH (13% unilateral) that had reached age 5 years, we identified 43 subjects who had orbital MRI in addition to fundus photography performed prior to 2 years of age. We compared measurements of the Optic Nerve diameter from orbital MRI scans to the standard relative Optic disc size (disc diameter/disc-macula (DD/DM) distance) by fundus photography. All patients had visual acuity tested at age 5 years. Spearman’s correlation coefficient was used to determine the correlation of orbital MRI measurements and fundus photography with the diagnosis of ONH, and with vision outcomes. Results Relative disc size (DD/DM) Discussion Orbital Optic Nerve diameter from MRI scans has moderate reliability in diagnosing ONH and predicting vision outcomes. Fundus photography for measurements of the Optic Nerve size should remain the reference for diagnostic confirmation of ONH. These data further support the prognostic value of fundus photography for eventual vision outcomes in this population.
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brain malformations do not predict hypopituitarism in young children with Optic Nerve Hypoplasia
Hormone Research in Paediatrics, 2017Co-Authors: Pamela Garciafilion, Cassandra Fink, Marvin D Nelson, Mitchell E Geffner, Hashem Almarzouki, Mark BorchertAbstract:Background: Optic Nerve Hypoplasia (ONH), a leading cause of pediatric blindness, is associated with brain malformations and hypopituitarism in the constellation known as septo-Optic dysplasia. Neuroimaging is used to anticipate hypopituitarism, but with unconfirmed reliability. We report prospective findings on the association of hypopituitarism with brain malformations. Methods: Children ( n = 146; 87% bilateral) underwent baseline MRI and annual examinations and hormonal testing. Hypopituitarism status at age 5 years was classified. Results: A total of 74% had brain malformation(s). Hypopituitarism (69%) was not associated with brain malformations ( p = 0.351); this persisted after adjusting for the laterality of ONH and the timing of MRI ( p adj = 0.869). No association was noted for absent septum pellucidum (38%; p = 0.073), corpus callosum abnormality (51%; p = 0.625), and major malformations (22%; p = 0.407). A malformation conferred a positive predictive value of 71% (95% CI: 62%, 80%), and a negative predictive value of 37% (95% CI: 22%, 54%). Overall, 10% ( n = 15) of the cohort presented with a triad of absent septum pellucidum, corpus callosum abnormality, and other major malformation; only half ( n = 8) of these had hypopituitarism. All 13 subjects with pituitary malformations manifested hypopituitarism, conferring predictive values of 100% (positive) and 34% (negative). Conclusions: Hypopituitarism and brain malformations are highly prevalent, but have unrelated associations with ONH. Brain MRI in infants and toddlers with ONH is an unreliable screen for hypopituitarism risk.
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endocrine and pubertal disturbances in Optic Nerve Hypoplasia from infancy to adolescence
International Journal of Pediatric Endocrinology, 2015Co-Authors: Oliver J Oatman, Pamela Garciafilion, Donald R Mcclellan, Micah L OlsonAbstract:Background Endocrinologic abnormalities are a common co-morbidity in patients with Optic Nerve Hypoplasia (ONH), however the impact on puberty is unknown. The purpose of this study was to examine rates of endocrine dysfunction and pubertal disturbances in a pediatric population of ONH.
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comparison of human expert and computer automated systems using magnitude squared coherence msc and bootstrap distribution statistics for the interpretation of pattern electroretinograms pergs in infants with Optic Nerve Hypoplasia onh
Documenta Ophthalmologica, 2015Co-Authors: Mark Borchert, Cassandra Fink, Pamela Garciafilion, Daphne L Mcculloch, A C FisherAbstract:Purpose Pattern electroretinograms (PERGs) have inherently low signal-to-noise ratios and can be difficult to detect when degraded by pathology or noise. We compare an objective system for automated PERG analysis with expert human interpretation in children with Optic Nerve Hypoplasia (ONH) with PERGs ranging from clear to undetectable.
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prenatal determinants of Optic Nerve Hypoplasia review of suggested correlates and future focus
Survey of Ophthalmology, 2013Co-Authors: Pamela Garciafilion, Mark BorchertAbstract:Optic Nerve Hypoplasia (ONH), a congenital malformation characterized by an underdeveloped Optic Nerve, is a seemingly epidemic cause of childhood blindness and visual impairment with associated lifelong morbidity. Although the prenatal determinants of ONH are unknown, early case reports have led to a longstanding speculation that risky health behaviors (e.g., prenatal use of recreational drugs, alcohol) are a likely culprit. There has yet to be a systematic review of the epidemiology of ONH to assess the common prenatal features that may help focus research efforts in the identification of likely prenatal correlates. A review of the past 50 years of epidemiologic research was conducted to examine the prenatal features linked with ONH and provide direction for future research. There are select prominent prenatal features associated with ONH: young maternal age and primiparity. Commonly implicated prenatal exposures (recreational or pharmaceutical drugs, viral infection, etc.) were rare or uncommon in large cohort studies of ONH and therefore unlikely to be major contributors to ONH. Familial cases and gene mutations are rare. The preponderance of young mothers and primiparity among cases of ONH is striking, although the significance is unclear. Recent research suggests a potential role for prenatal nutrition, weight gain, and factors of deprivation. With the rapidly increasing prevalence of ONH, future research should focus on investigating the relevance of young maternal age and primiparity and exploring the recently suggested etiologic correlates in epidemic clusters of ONH.
Pamela Garcia-filion - One of the best experts on this subject based on the ideXlab platform.
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Optic Nerve Hypoplasia Syndrome: A Review of the Epidemiology and Clinical Associations
Current Treatment Options in Neurology, 2013Co-Authors: Pamela Garcia-filion, Mark BorchertAbstract: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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The syndrome of Optic Nerve Hypoplasia
Current Neurology and Neuroscience Reports, 2008Co-Authors: Mark Borchert, Pamela Garcia-filionAbstract:The congenital malformation known as Optic Nerve Hypoplasia (ONH) has been recognized in the past 30 years as an epidemic cause of congenital blindness. It was believed to occur either as an isolated anomaly or as a component of the syndrome of septo-Optic dysplasia, which has evolved to include midline brain malformations and hypopituitarism. Evidence now suggests that ONH infrequently occurs in isolation. Most afflicted children will have hypothalamic dysfunction and/or neurodevelopmental impairment, regardless of MRI findings or severity of ONH. Adverse outcomes can often be ameliorated with early intervention. Thus, the syndrome of ONH should be suspected in all infants with signs of hypothalamic dysfunction or vision impairment.
Tae Woo Kim - One of the best experts on this subject based on the ideXlab platform.
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comparison of the deep Optic Nerve structures in superior segmental Optic Nerve Hypoplasia and primary open angle glaucoma
Journal of Glaucoma, 2016Co-Authors: Eun Ji Lee, Kyoung Min Lee, Seung Hyen Lee, Tae Woo KimAbstract:PURPOSE The purpose of this study was to characterize the microstructure of the deep Optic Nerve tissues in eyes with superior segmental Optic Nerve Hypoplasia (SSOH) in comparison with that in primary open-angle glaucoma (POAG). METHODS Thirty-five eyes with SSOH, 37 eyes with POAG, and 54 healthy control eyes underwent enhanced depth imaging (EDI) volume scanning of the Optic Nerve using spectral-domain Optical coherence tomography (SD-OCT). POAG patients were matched with SSOH patients in terms of the thickness of the neuroretinal rim and the retinal Nerve fiber layer in the superior sector. The lamina cribrosa thickness (LCT) was determined in 3 equidistant planes, and anterior lamina cribrosa surface depth (LCD) was determined in 5 equidistant planes. The measurements were compared between groups, and the areas under the receiver operating characteristic curves (AUC) were obtained for each parameter. RESULTS Eyes with SSOH had larger LCT and smaller LCD than POAG eyes at all locations (all P<0.001). The largest LCT was observed at the superior midperiphery in the SSOH group, but at central locations in both the POAG and control groups. The best parameters for discriminating the SSOH from glaucoma and healthy eyes were the superior midperipheral LCT (AUC=0.973) and inferior and inferior midperipheral LCD (AUCs=0.906), respectively. CONCLUSIONS The LCT and LCD exhibited characteristic features in eyes with SSOH that were distinctive from those of POAG and healthy eyes. Investigation of the deep Optic Nerve structure using EDI SD-OCT may be beneficial for differentiating between SSOH and glaucoma, which may help to avoid both overtreatment and undertreatment.
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prevalence of superior segmental Optic Nerve Hypoplasia in korea
Japanese Journal of Ophthalmology, 2009Co-Authors: Sang Beom Han, Ki Ho Park, Dong Myung Kim, Tae Woo KimAbstract:To investigate the prevalence of superior segmental Optic Nerve Hypoplasia in Korea. We reviewed the fundus photographs of 3905 individuals who were 40 years old or older and who participated in the comprehensive medical examination program at the Health Promotion Center of Seoul National University Bundang Hospital from March 2003 to December 2006. A single glaucoma specialist reviewed all the photographs, and special attention was paid to the presence of superior segmental Optic Nerve Hypoplasia. The reviewer was masked to information other than the fundus photographs. Superior segmental Optic Nerve Hypoplasia was detected in three eyes of three subjects, which was 0.08% of the 3905 subjects. All three eyes showed a corresponding visual field defect. Superior segmental Optic Nerve Hypoplasia might be a rare condition in Korea.
Mehul T. Dattani - One of the best experts on this subject based on the ideXlab platform.
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Reduced Ventral Cingulum Integrity and Increased Behavioral Problems in Children with Isolated Optic Nerve Hypoplasia and Mild to Moderate or No Visual
2016Co-Authors: Emma A. Webb, Michelle A. O’reilly, Jonathan D. Clayden, Kiran K. Seunarine, Naomi Dale, Alison Salt, Chris A. Clark, Mehul T. DattaniAbstract:Objectives: To 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 Methods: Eleven 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. Results: Children 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 =20.52, p,0.02, r =20.46, p,0.049 respectively). There were no significant correlations between left ventral cingulum, corpus callosum or Optic radiation fractional anisotropy and behavioral scores
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reduced ventral cingulum integrity and increased behavioral problems in children with isolated Optic Nerve Hypoplasia and mild to moderate or no visual impairment
PLOS ONE, 2013Co-Authors: Emma A. Webb, Jonathan D. Clayden, Kiran K. Seunarine, Naomi Dale, Alison Salt, Chris A. Clark, Michelle A Oreilly, Mehul T. DattaniAbstract:To 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.