1/9. Septooptic dysplasia.The term septooptic dysplasia was coined in 1956 by de Morsier, who pointed out the association of optic nerve hypoplasia and absence of the septum pellucidum. patients with this condition may present with clinical features of hypopituitarism, decreased visual acuity and neurodevelopmental disabilities that lead to this diagnosis. The case that is presented here is unusual in that this patient was initially diagnosed as having low tension glaucoma during a routine screening examination and was treated for glaucoma for over a year before he was discovered to have septooptic dysplasia, also known as de Morsier's syndrome.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
2/9. optic nerve hypoplasia in cholestatic infants: a multiple case study.PURPOSE: To present four infants with optic nerve hypoplasia and cholestasis. methods: All patients underwent detailed ophthalmological and hepatological assessment. Their endocrinological and neuroradiological examinations were re-evaluated. RESULTS: All four infants presented with cholestasis and were subsequently found to have optic nerve hypoplasia. One child was blind according to the WHO definition and two had low vision. The fourth child had unilateral optic nerve hypoplasia and was too young to be assessed with optotypes. All four children had central nervous system and/or endocrine dysfunction. However, only one child had septo-optic dysplasia. The longterm outcome of liver disease seemed favourable in all children. CONCLUSION: Early assessment by a paediatric ophthalmologist as well as a multidisciplinary approach is of great importance in cholestatic infants.- - - - - - - - - - ranking = 7keywords = nerve (Clic here for more details about this article) |
3/9. septo-optic dysplasia: a literature review.BACKGROUND: septo-optic dysplasia (SOD) is a rare disorder characterized by optic nerve hypoplasia with any combination of absent septum pellucidum and/or pituitary dysfunction. SOD may manifest as strabismus, nystagmus, decreased visual acuity, or visual impairment; as an endocrine dysfunction in isolation; or in addition to mental retardation, cerebral palsy, developmental delay, or delayed growth. METHOD: This article reviews the presenting signs and symptoms of SOD, optic nerve hypoplasia, consequences of an absent septum pellucidum, endocrine findings associated with SOD, SOD diagnosis determination, syndromes associated with SOD, and optometry's role in caring for these patients. It also examines two cases that demonstrate the variety and severity of visual and physical impairments associated with SOD. RESULTS: SOD has a multi-factorial etiology, including insult during pregnancy (e.g., viral infections, gestational diabetes); vascular disruption; or a genetic mutation. Children with SOD may manifest a variety of visual and/or physical symptoms that range from mild to severe. CONCLUSIONS: The associated vision, developmental, neurologic, and endocrine disturbances require early diagnosis and management. Optometrists need to be aware of optic nerve hypoplasia (ONH) and consider this diagnosis in patients with visual acuity loss. A comprehensive eye examination and visual-field assessment should be completed in addition to appropriate referrals for endocrine, developmental, and/or cognitive anomalies.- - - - - - - - - - ranking = 3keywords = nerve (Clic here for more details about this article) |
4/9. septo-optic dysplasia plus: case report.septo-optic dysplasia (SOD) is a syndrome composed by optic nerve and septum pellucidum dysgenesis. It has been classified into two subsets according to the embryogenesis and the neuropathological findings. Basically, the difference between these two groups is the presence or not of schizencephaly. The term SOD-Plus was recently proposed to describe SOD associated with cortical dysplasia. We report a 6-month-old female patient who presented absent visual fixation since 4 months of age and delayed psychomotor development. Neurological examination demonstrated spastic left hemiparesis and ophtalmological evaluation revealed bilateral optic disc hypoplasia. The head computed tomography (CT) scan showed absence of the septum pellucidum, ventricular asymmetry and schizencephaly. The magnetic resonance imaging (MRI) showed complete absence of the septum pellucidum associated to optic nerves and chiasma atrophy, schizencephaly and cortical dysplasia. The patient underwent an evoked potential examination with flash stimulation, which revealed bilateral absence of cortical evoked potential. She was referred to visual stimulation and physiotherapy. We emphasize the neuroimaging of this syndrome and stress the importance of the clinical investigation for patients with septum pellucidum dysgenesis on MRI or CT scans.- - - - - - - - - - ranking = 2keywords = nerve (Clic here for more details about this article) |
5/9. septo-optic dysplasia with congenital hepatic fibrosis.This article reports a 7-year-old female with septo-optic dysplasia and congenital hepatic fibrosis. She manifested nystagmus and severe hepatosplenomegaly. brain magnetic resonance imaging revealed agenesis of the septum pellucidum, optic nerve hypoplasia, pituitary gland stalk hypoplasia, and absence of the posterior pituitary gland. She was diagnosed with growth hormone deficiency, hypothyroidism, diabetes insipidus, and adrenal insufficiency. Thus, this case was regarded as septo-optic dysplasia. No mutation was evident in the coding and boundary regions of the homeobox gene HESX1. Percutaneous biopsy of the liver demonstrated the presence of broad septa of fibrous tissue containing abundant bile ducts without inflammatory cell infiltrates, a finding compatible with congenital hepatic fibrosis. Although there is an association between septo-optic dysplasia and neonatal cholestasis, believed to be related to hypopituitarism, this case of septo-optic dysplasia with congenital hepatic fibrosis is apparently the first reported in the English literature.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
6/9. diffusion-tensor imaging in septo-optic dysplasia.One of the morphological correlates of septo-optic dysplasia is hypoplasia of the optic nerves. As of now, it remains unknown, in how far this disorder also affects the organization of the optic radiation. Using diffusion-tensor imaging (DTI), the non-invasive evaluation of large fiber tracts including the optic radiation has become possible. We have compared DTI-data from a patient suffering from septo-optic dysplasia with those of a group of eleven healthy control subjects. The anisotropy showed statistically significant reduction in the patient with septo-optic dysplasia within the visual fiber tracts and an unordered eigenvector map. A comparison of the anisotropy in the pyramidal tract showed no significant difference. Since the patient was congenitally blind, it remains unclear whether the findings are the results of the underlying disorder or occur in all congenitally blind patients. One might presume, that, in order for the optic radiation to fully develop, an afferent input to the lateral geniculate body is necessarry.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
7/9. prenatal diagnosis of absence of the septum pellucidum associated with septo-optic dysplasia.septo-optic dysplasia (SOD; De Morsier syndrome) is a rare congenital disorder characterized by the absence of the septum pellucidum (SP), hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. We report on two fetuses with absence of the SP diagnosed by ultrasound examination at 29 and 30 gestational weeks. In the first case the diagnosis of SOD was suspected in utero and confirmed postnatally; to the best of our knowledge this is the first report of the prenatal diagnosis of SOD. In the second case absence of the SP appeared to be isolated and no visual or endocrine impairment were detected after birth.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
8/9. Infantile infection and diabetes insipidus in children with optic nerve hypoplasia.BACKGROUND: Bilateral optic nerve hypoplasia (BONH) is often associated with other central nervous system midline abnormalities (septo-optic dysplasia). Hormonal dysfunction, caused by anterior (cortisol) and posterior (ADH) pituitary involvement, can be sudden, severe, and life threatening. methods: Case series. Three cases of septo-optic dysplasia (SOD) presenting as infantile infection with associated diabetes insipidus are reported. The diagnosis of SOD was suspected only after ophthalmological evaluation; further evaluation led to the diagnosis of panhypopituitarism. CONCLUSIONS: A high index of suspicion is required to diagnose SOD in children when the disorder presents with infantile infection and hypernatraemia. Early warning signs of neonatal jaundice and hypoglycaemia should prompt ophthalmological evaluation.- - - - - - - - - - ranking = 5keywords = nerve (Clic here for more details about this article) |
9/9. Monocular temporal hemianopia with septo-optic dysplasia.A 26-year-old woman displayed a monocular temporal hemianopic defect together with an ipsilateral afferent pupillary defect and bowtie optic nerve hypoplasia. MRI revealed a thin right optic nerve, an asymmetrically thinned chiasm, and an absent septum pellucidum. Monocular temporal visual field loss from organic lesions is quite rare but has been reported in conjunction with compressive lesions at the optic nerve-optic chiasm junction. This is the first report to demonstrate this visual field defect together with bowtie optic nerve hypoplasia.- - - - - - - - - - ranking = 4keywords = nerve (Clic here for more details about this article) |