Morbidities and comorbidities associated with opticnervehypoplasia and septo-optic-pituitary dysplasia. To quantify opticnervehypoplasia (ONH) and septo-optic-pituitary dysplasia (SOD) morbidities and comorbidities. A retrospective population-based study with a case-control design was undertaken using administrative health data from Manitoba, Canada. Cases were 124 patients with ONH or SOD
Visual acuity and optic nerve size assessed by magnetic resonance imaging in opticnervehypoplasia. We investigated the relationship between optic nerve (ON) size and visual acuity in children with opticnervehypoplasia (ONH). The medical records of patients <19 years with ONH who underwent brain magnetic resonance imaging (MRI) and visual acuity assessment were reviewed. ON diameter at orbital
Risk factors in children with opticnervehypoplasia and septo-optic dysplasia. To identify the risk factors for opticnervehypoplasia (ONH) and septo-optic dysplasia (SOD). A retrospective, population-based study with case-control design was undertaken using the Population Research Data Repository at the Manitoba Center for Health Policy in Manitoba, Canada. Cases were 111 patients (63 males
Case report: A patient with Delayed Sleep-Wake Phase Disorder and OpticNerveHypoplasia treated with tasimelteon: a case study. We present a case of an adult female diagnosed with Delayed Sleep-Wake Phase Disorder (DSWPD) and OpticNerveHypoplasia (ONH), with a confirmed delayed Dim Light Melatonin Onset (DLMO), who reports the inability to fall asleep at their desired bedtime and obtain
Superior segmental opticnervehypoplasia: A review. Superior segmental opticnervehypoplasia (SSONH) is a congenital condition characterized by developmental abnormalities of the superior optic disc and an underappreciated differential diagnosis for glaucoma. The reported prevalence is less than 1%, although likely underestimated due to the difficulties with diagnosis. The exact pathophysiology
Mutations in LAMB2 Are Associated With Albuminuria and OpticNerveHypoplasia With Hypopituitarism. Mutations in LAMB2, encoding the basement membrane protein, laminin β2, are associated with an autosomal recessive disorder characterized by congenital nephrotic syndrome, ocular abnormalities, and neurodevelopmental delay (Pierson syndrome). This report describes a 12-year-old boy with short stature, visual impairment, and developmental delay who presented with macroscopic hematuria and albuminuria. He had isolated growth hormone deficiency, opticnervehypoplasia, and a small anterior pituitary with corpus callosum dysgenesis on his cranial magnetic resonance imaging, thereby supporting a diagnosis of opticnervehypoplasia syndrome. Renal histopathology revealed focal segmental
Non-Cell Autonomous Roles for CASK in OpticNerveHypoplasia. Heterozygous mutations in the essential X-linked gene CASK associate with opticnervehypoplasia (ONH) and other retinal disorders in girls. CASK+/- heterozygous knockout mice with mosaic CASK expression exhibit ONH with a loss of retinal ganglion cells (RGCs) but no changes in retinal morphology. It remains unclear if CASK deficiency
Genetic causes of opticnervehypoplasia. Opticnervehypoplasia (ONH) is the most common congenital optic nerve anomaly and a leading cause of blindness in the USA. Although most cases of ONH occur as isolated cases within their respective families, the advancement in molecular diagnostic technology has made us realise that a substantial fraction of cases has identifiable genetic causes
Neuroimaging and endocrine disorders in paediatric opticnervehypoplasia. Opticnervehypoplasia (ONH) is one of the leading causes of blindness among children. The purpose of this retrospective study is to determine the risk factors and association between brain MRI findings, pituitary abnormalities and endocrine disorders with the presence of ONH. A retrospective review of patients seen
OpticNerveHypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates. Opticnervehypoplasia (ONH) is the most common cause of childhood congenital blindness in developed nations, yet the fundamental pathobiology of ONH remains unknown. The objective of this study was to employ a 'face validated' murine model to determine the timing of onset and the pathologic characteristics remains unchanged. Moreover, we demonstrate a significant decrease in retinal ganglion cell (RGC) numbers and perturbation in retinothalamic connectivity. Finally, we used this mouse model to define the onset and progression of ONH pathology, demonstrating for the first time that optic nerve defects arise at neonatally in CASK(+/-)mice. Opticnervehypoplasia is a complex neuropathology
Increasing incidence of opticnervehypoplasia/septo-optic dysplasia spectrum: Geographic clustering in Northern Canada Owing to the shared embryonic origin, defects in development of optic nerves are often seen in conjunction with defects affecting the surrounding brain and pituitary gland. Opticnervehypoplasia (ONH) and septo-optic dysplasia (SOD) represent a clinical spectrum associated
Brain malformations do not predict hypopituitarism in young children with opticnervehypoplasiaOpticnervehypoplasia (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
Retinal Structure and Function in Eyes with OpticNerveHypoplasia We investigated retinal structure and function in eyes with opticnervehypoplasia (ONH). Twenty-nine eyes of 18 patients with ONH and 21 eyes of 21 control patients were analyzed. Spectral-domain optical coherence tomography (SD-OCT), full-field electroretinography (FF-ERG), and focal macular ERG (FM-ERG) were performed. SD-OCT
Prenatal ethanol exposure in mice phenocopies Cdon mutation by impeding Shh function in the etiology of opticnervehypoplasia Septo-optic dysplasia (SOD) is a congenital disorder characterized by optic nerve, pituitary and midline brain malformations. The clinical presentation of SOD is highly variable with a poorly understood etiology. The majority of SOD cases are sporadic, but in rare address the hypothesis that SOD is a multifactorial disorder stemming from interactions between mutations in Shh pathway genes and prenatal ethanol exposure. Mouse embryos with mutations in the Shh co-receptor, Cdon, were treated in utero with ethanol or saline at embryonic day 8 (E8.0) and evaluated for opticnervehypoplasia (ONH), a prominent feature of SOD. We show that both Cdon mutation
Comparison of the Deep Optic Nerve Structures in Superior Segmental OpticNerveHypoplasia and Primary Open-Angle Glaucoma. The purpose of this study was to characterize the microstructure of the deep optic nerve tissues in eyes with superior segmental opticnervehypoplasia (SSOH) in comparison with that in primary open-angle glaucoma (POAG). Thirty-five eyes with SSOH, 37 eyes with POAG
A case of optic-nervehypoplasia and anterior segment abnormality associated with facial cleft The incidence of facial cleft is rare and ranges between 1.43 and 4.85 per 100,000 births. To date, there have been few reports of detailed ophthalmologic examinations performed in cases of facial cleft. Here, we report a case of optic-nervehypoplasia and anterior segment abnormality associated with facial cleft. A 9-day-old female infant was delivered by cesarian section at 34 weeks of gestational age (the second baby of twins) and weighed 2,276 g upon presentation. She had a facial cleft and ectrodactyly at birth. Right eye-dominant blepharophimosis was obvious. Examination of the right eye revealed inferior corneal opacity with vascularization, downward corectopia, and optic-nervehypoplasia
Efficacy of growth hormone replacement on anthropometric outcomes, obesity, and lipids in children with opticnervehypoplasia and growth hormone deficiency. Hypopituitarism and obesity are causes of major lifelong morbidity in patients with opticnervehypoplasia (ONH). Growth hormone deficiency (GHD) affects the majority of children with ONH, though the degree of deficiency and variability
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and opticnervehypoplasia To investigate the genetic etiology of anophthalmia and microphthalmia, we used exome sequencing in a Caucasian female with unilateral microphthalmia and coloboma, bilateral opticnervehypoplasia, ventricular and atrial septal defects, and growth delays. We found two sequence variants in SALL4
Ocular, Neurologic and Systemic Findings of the Cases with OpticNerveHypoplasia To describe the associated ocular, neurologic, and systemic findings in a population of children with opticnervehypoplasia (ONH) and to evaluate the relationship between ocular signs and neurologic findings. A retrospective chart review of 53 patients with the diagnosis of ONH seen between December 1998