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Optic Nerve Hypoplasia Plus: a New Way of Looking at Septo-Optic Dysplasia

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Optic Nerve Hypoplasia Plus: a New Way of Looking at Septo-Optic Dysplasia Optic Nerve Hypoplasia Plus: A New Way of Looking at Septo-Optic Dysplasia Item Type text; Electronic Thesis Authors Mohan, Prithvi Mrinalini Publisher The University of Arizona. Rights Copyright © is held by the author. Digital access to this material is made possible by the University Libraries, University of Arizona. Further transmission, reproduction or presentation (such as public display or performance) of protected items is prohibited except with permission of the author. Download date 29/09/2021 22:50:06 Item License http://rightsstatements.org/vocab/InC/1.0/ Link to Item http://hdl.handle.net/10150/625105 OPTIC NERVE HYPOPLASIA PLUS: A NEW WAY OF LOOKING AT SEPTO-OPTIC DYSPLASIA By PRITHVI MRINALINI MOHAN ____________________ A Thesis Submitted to The Honors College In Partial Fulfillment of the Bachelors degree With Honors in Physiology THE UNIVERSITY OF ARIZONA M A Y 2 0 1 7 Approved by: ____________________________ Dr. Vinodh Narayanan Center for Rare Childhood Disorders Abstract Septo-optic dysplasia (SOD) is a rare congenital disorder that affects 1/10,000 live births. At its core, SOD is a disorder resulting from improper embryological development of mid-line brain structures. To date, there is no comprehensive understanding of the etiology of SOD. Currently, SOD is diagnosed based on the presence of at least two of the following three factors: (i) optic nerve hypoplasia (ii) improper pituitary gland development and endocrine dysfunction and (iii) mid-line brain defects, including agenesis of the septum pellucidum and/or corpus callosum. A literature review of existing research on the disorder was conducted. The medical history and genetic data of 6 patients diagnosed with SOD were reviewed to find damaging variants. Novel mutations were found in the sequencing data in 3 of the 6 patients. I also realized that the diagnostic criteria for SOD tend to be inconsistent and I have recommended a reorganization to focus on the optic nerve hypoplasia as the central factor of the disorder. I will be writing up my findings to submit for review and potential publication in the journal Pediatric Neurology. The clinic will be pursuing further molecular studies to understand if these mutations are causes of the disorder. I. Introduction and History Septo-optic dysplasia (SOD), or de Morsier syndrome, is a rare congenital disorder that is seen in about 1 in 10,000 live births1. Currently, SOD is diagnosed based on the presence of two out of three anomalies – optic nerve hypoplasia, midline brain defects, and pituitary abnormalities with associated endocrine deficits. ONH occurs in 75-80% of cases, hypopituitarism in 62%, and 60% of cases lack a septum pellucidum. Other associated features include developmental delay, epilepsy, hemiparesis, schizencephaly, grey matter heterotopia, and mental retardation2. At its core, SOD is a disorder resulting from improper embryological development of midline brain structures. It was first discussed in 1941 by Reeves, who presented a case study of a young girl with absent septum pellucidum and bilateral optic nerve hypoplasia3. Reeves also documented forty five cases involving an absent septum pellucidum. He concluded that multiple nervous system developmental anomalies coexisted in these cases, and that an absent septum pellucidum was not indicative of a “definite clinical picture or symptom.” However, the clinical diagnosis of septo-optic dysplasia was introduced in 1956 by De Morsier. He presented the case of an 84-year-old woman with absent septum pellucidum and optic chiasm malformation. After finding another eight cases with septum pellucidum agenesis and optic nerve abnormalities, he coined the term septo-optic dysplasia4. In 1970, Hoyt et al. published a short paper in The Lancet describing the association of pituitary dwarfism with septo-optic dysplasia. They presented nine patients with maldevelopment of optic structures and retarded growth, four of whom had absent septum pellucidum. They concluded that septo-optic dysplasia was a common cerebral malformation associated with congenital pituitary dwarfism5. Thus, the triad of anomalies considered for a diagnosis of septo-optic dysplasia was established. Optic nerve hypoplasia (ONH) is also a congenital disorder of unknown cause involving malformations of one or both optic nerves and various degrees of visual impairment. Associated signs include brain malformations, hypothalamic and pituitary dysfunction, and neurocognitive disabilities. It is the second leading cause of congenital visual impairment and the leading cause of permanent legal blindness in children in the Western world. While it has been grouped with the absence of a septum pellucidum for a long time, many studies have shown that ONH is an independent risk factor for pituitary dysfunction. In fact, ONH might even be a better indicator to diagnose children with midline brain defects. A comprehensive look at the clinical presentations of SOD patients with ONH supports this conclusion as well. Genetic testing of these patients also provides insight into the elusive etiologies of SOD and ONH. II. Brain Development The forebrain structures arise from the prosencephalon during embryonic development. This occurs from the 4th week of gestation, during which ventral induction occurs leading to prosencephalon development via formation, cleavage, and midline development6. The peak period of development for the prosencephalon is the second an third months, through inductive interactions with the prechordal mesoderm. Since these inductive interactions influence the facial structures as well, prosencephalic anomalies often result in corresponding facial anomalies. After the formation stage, the prosencephalon cleaves in three ways – horizontally, transversely, and sagittally. The first forms the structures including the optic vesicles and olfactory bulbs and tracts, the second separates the telencephalon and diencephalon, and the third forms the two cerebral hemispheres along with the lateral ventricles and basal ganglia. Afterwards, during midline development, the corpus callosum, septum pellucidum, optic nerve chiasm, and hypothalamic structures form7. Image 1: Divisions of the neural tube Image 2: Sagittal view of the brain with the corpus callosum, septum pellucidum, optic nerve+chiasm, pituitary gland, fornix, and mammillary body all labeled A. Lamina Terminalis, Septum Pellucidum, and Corpus Callosum The septum pellucidum and corpus callosum both develop from the primitive lamina terminalis, also known as the commissural plate. The lamina terminalis forms from the closure of the anterior neuropore and the fusion of the lateral plates. It resides in the rostral wall of the prosencephalon. This structure, which routes fibers from one cerebral hemisphere to another, also forms the anterior wall of the telencephalic cavity. The corpus callosum grows first from the commissural plate arching dorsocaudally, and it is stretched ventrally between the lateral ventricles to the fornix, forming the septum pellucidum. Septum Pellucidum The septum pellucidum is an important relay station within the limbic system. It is a thin, translucent structure made up of two laminae extending from the anterior section of the corpus callosum to the superior surface of the fornix8. It separates the anterior horns of the left and right lateral ventricles. It also has important fiber connections to the hypothalamus and hippocampus. The cavum septi pellucidi (CSP) is a cerebral spinal fluid space between the leaflets of the septum pellucidum during development. Usually, the cavum closes early on in childhood, though it persists in about 15% of the adult population9. The CSP is a structure that can be identified early on in the fetus. During routine obstetric sonography, it should be identifiable at 18 to 20 weeks. Lack of CSP visualization is an early sign of SOD10. Beyond its anatomical placement, the functional significance of the septum pellucidum is unknown. Thus, the full implications of an absent septum pellucidum are unclear. Williams et al. concluded that absence of the septum pellucidum alone does not result in significant neurological, behavioral, or intellectual dysfunction11. However, several studies say that the septum pellucidum relays visceral information from the hypothalamic autonomic system to the hippocampus, amygdala, and other brain structures, implicating it for sleep functions, consciousness, and memory formation, to name a few things12. Image 3: MRIs demonstrating normal septum pellucidum and vergae. Red arrows are pointing to the septum pellucidum. Corpus Callosum The corpus callosum is the largest white matter tract in the brain that connects the two cerebral hemispheres. During development, adult morphology is reached by around week 20. After birth, the size decreases as large amounts of callosal axons are eliminated to limit contact between the cerebral hemispheres to specific cortical areas. While the fetal corpus callosum is an indicator for normal brain development, the adult corpus callosum reflects differences in hemispheric representation in cognitive abilities13. Due to its importance for abstract reasoning, language, and the complex integration of sensory information, any insult to the development of the corpus callosum can result in a wide range of neurological and behavioral deficits14. Image 4: Sagittal MRI of the brain with red arrows pointing at the corpus callosum or a normal individual. B. Optic Nerve The optic nerve develops from the diencephalon. An optic
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