Septo-optic dysplasia in two siblings

We treated two siblings, a sister and brother, who had features of septo-optic dysplasia, including bilateral optic nerve hypoplasia, absent septum pellucidum, and partial pituitary insufficiency. Additionally, midline central nervous system abnormalities of the corpus callosum and cerebellum were shown. The familial occurrence of this disorder raises the possibility of autosomal-recessive inheritance.     

Midriasis congénita como signo inicial de displasia septo-óptica

Septo-optic dysplasia (SOD)[MIM182230] consisting of a heterogeneous and uncommon condition characterised by the classictriad: optic nerve hypoplasia, abnormalities of pituitary hormone, and defects of thebrain midline (including agenesis of the septum pellucidum and/or the corpus callosum; ithas also been described associated cortical malformations, it was referred to as SOD plus syndrome).We report the first known case in which the initial diagnostic sign of SOD was a bilateralmydriasis as a manifestation ofhypoplasia of both optic nerves, pituitary hypoplasia andcerebral dysgenesis with neuronal migration disorder.We discuss thedifferential diagnosis of congenital mydriasis.     

Septo-optic dysplasia (case report).

Septo optic dysplasia is a rare developmental anomaly involving bilateral optic nerve hypoplasia, midline anomalies of the brain and hypothalamo-pituitary dysfunction. A case of septo-optic dysplasia with pituitary dwarfism, optic nerve hypoplasia and absent septum pellucidum is reported.     

Septo-optic dysplasia (de Morsier syndrome).

A 12-year-old girl and a 30-year-old woman had bilateral optic disk hypoplasia and bitemporal hemianopia. By using computed axial tomography on our patients, we demonstrated the absence of the septum pellucidum, which confirmed the diagnosis of septo-optic dysplasia, or the de Morsier syndrome.     

The achiasmia spectrum: congenitally reduced chiasmal decussation

AIM: To describe the clinical spectrum of achiasmia, a congenital disorder of reduced relative decussation at the optic chiasm. METHODS: A retrospective case note and patient review of nine children (four boys). Achiasmia was defined by the combination of a characteristic asymmetry of the monocular visual evoked potential (VEP) response to flash and neuroimaging showing reduced chiasmal size. RESULTS: Three of the children had an associated skull base encephalocele with agenesis of the corpus callosum. In two patients achiasmia was associated with septo-optic dysplasia. Three patients had no neuroimaging abnormalities other than reduced chiasmal size and have no known pituitary dysfunction. One child had multiple physical deformities but the only brain imaging abnormality was reduced chiasmal size. CONCLUSIONS: Some children with disorders of midline central nervous system development, including septo-optic dysplasia and skull base encephaloceles, have congenitally reduced chiasmal decussation. Reduced relative decussation may co-exist with overall chiasmal hypoplasia. Children with an apparently isolated chiasmal decussation deficit may have other subtle neurological findings, but our clinical impression is that most of these children function well.     

A patient with de Morsier and Duane syndromes.

de Morsier syndrome, or septo-optic dysplasia, is a developmental malformation complex characterized by optic nerve hypoplasia, dysgenesis of the septum pellucidum, and hypothalamic-pituitary dysfunction. (1,2) In Duane retraction syndrome, there is absence of the sixth nerve nucleus with congenital retraction of the globe and narrowing of the lid fissure in adduction, frequent abduction deficiency, and variable limitation to adduction of the affected eye. (3) The purpose of this report is to present a patient with the uncommon and previously unreported concurrence of both of these congenital malformation complexes, presumably because of a common disturbance of neuronal development.     

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.     

Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities

We studied the clinical and histopathologic ocular findings in four related males with a newly recognized syndrome consisting of microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism with X-linked recessive inheritance. The ocular abnormalities include microphthalmos, corneal pannus and hypoplasia, cataracts, uveal hypoplasia, retinal dysplasia, optic nerve hypoplasia, and congenital blepharoptosis. In case 4, a female twin who died in utero (at 15 weeks' gestation) showed none of the ocular abnormalities.     

Aicardi syndrome: More than meets the eye

An eight-month-old girl with infantile spasms and apparent blindness had electroencephalographic findings compatible with Aicardi syndrome. In addition to optic nerve hypoplasia, there were multiple congenital retinal malformations in the right eye, including chorioretinal lacunae, anomalous retinal vessels, posterior scleral ectasia, and a peripheral fibrous ridge. Magnetic resonance imaging demonstrated agenesis of the corpus callosum, absence of the septum pellucidum, optic nerve and chiasmal hypoplasia, pachygyria, cortical heterotopias, colpocephaly, and hypoplasia of the cerebellar vermis. This patient illustrates the broad spectrum of cerebroretinal malformations now known to characterize Aicardi syndrome.     

The clinical and morphologic spectrum of optic nerve hypoplasia.

PURPOSE: The purpose of this study was to characterize the clinical and morphologic spectrum of all children referred for optic nerve hypoplasia to a tertiary referral hospital in Sweden during a 9-year period. SUBJECTS AND METHODS: A retrospective review was undertaken of the charts of 117 children (age range, 0.25-16 years), treated at the Children's Hospital, G?teberg between 1988 and 1996, after the diagnosis of optic nerve hypoplasia. Ocular fundus morphologic condition was evaluated by digital image analysis of fundus photographs in 50 children, and neuroimaging was performed in 57 children. RESULTS: Of the 117 children with optic nerve hypoplasia, 66 (56%) were boys and 51 (44%) were girls. Preterm birth occurred in 24 (20%), and 14 (12%) were born small for gestational age. Additional diagnoses, such as fetal alcohol syndrome, septo-optic dysplasia, perinatal adverse events, and neuropsychiatric disorders, were made in 88%; 7% had unilateral optic nerve hypoplasia. Most of the children had small optic disc, cup, and neuroretinal rim areas, as well as retinal vascular abnormalities; 75% were visually impaired, and a high incidence of nystagmus and strabismus was found among these children. CONCLUSION: This study indicates that optic nerve hypoplasia has a wide clinical and morphologic spectrum and is associated with a broad range of disorders of the central nervous system. It is suggested that differences in the etiology and timing of the lesion as well as associated lesions may explain this spectrum of optic nerve hypoplasia in children.     

Nystagmus giratoire and optic nerve hypoplasia in combination with absence of the septum pellucidum (author's transl)]

Septo-optical dysplasia and Optic nerve hypoplasia often are combined with pendular nystagmus in the horizontal, vertikal or rotatory direction. Our patient, 26 year old, showing discret neurological symptoms, added the nystagmus giratoire, perhaps similar to see-saw-nystagmus: Vision was about 0.2. Nystagmus and the whole state did not change within 6 years. The nystagmus was influenced by drugs. There was found also an aplasia of the fovea zentralis. Pneumencephalography revealed in the midline a dilatated single ventricle; the septum pellucidum was absent. Te X-rays of the atlantooccipital axis showed a foramen arcuale atlantis.     

Optic nerve hypoplasia

Optic nerve hypoplasia is an easily overlooked, nonprogressive developmental anomaly which results in a wide range of visual deficits. It is frequently associated with clinically significant central nervous system and endocrine abnormalities. Maternal substance abuse is increasingly recognized in many cases. A supranormal regression of optic nerve axons in utero, rather than a primary failure of differentiation, is proposed as the pathogenesis.     

Optic nerve hypoplasia: changing perspectives

Optic nerve hypoplasia, having once been regarded as exceedingly rare, is now regarded as one of the major causes of visual loss in infancy. Recognition of subtle forms and segmental forms of optic nerve hypoplasia are important in explaining the evaluation of subnormal vision, and have an added significance in the recognised associations of central nervous system anomalies including abnormalities of the endocrine system. These changing clinical perspectives are reviewed, together with a discussion of the pathogenesis of optic nerve hypoplasia in the light of cell death and nerve fibre degeneration seen in normal development of the neural visual system.     

Diagnostic imaging of the brain of blind and visually handicapped young children]

In infants with delayed or absent visual maturation a neuroradiological investigation of the brain is commonly performed in addition to neurophysiological examinations. We report our preliminary experience with magnetic resonance imaging (MRI). MRI allows a detailed anatomical assessment and an evaluation of the myelination, including the optic radiation. Following severe perinatal hypoxic-ischemic injury periventricular leukomalacia in the parieto-occipital region was a common finding. The findings in infants with or without ocular abnormalities were heterogeneous, including normal findings, nonspecific delays of cerebral myelination as well as several malformations (such as corpus callosum hypoplasia, Aicardi syndrome, septo-optic dysplasia, migration disorders). In the individual case the neuroradiological findings do not allow to draw conclusions to the visual function and prognosis. In children with Leber congenital retinal amaurosis we have observed a normal myelination of the optic radiation. In many cases, particularly if a syndromic diagnosis is reached, neuro-imaging gives useful information for prognostic and genetic counselling.     

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.     

Monocular nystagmus with sectoral optic nerve hypoplasia in a patient with septo‐optic dysplasia

This case depicts an unusual presentation of septo‐optic dysplasia. A four‐year‐old female presented with monocular nystagmus and temporal optic disc pallor in her left eye. Despite a normal sized optic nerve head, magnetic resonance imaging (MRI) showed a hypoplastic intraorbital and intracranial left optic nerve in the absence of a septum pellucidum. She was subsequently diagnosed with septo‐optic dysplasia with sectoral optic nerve head hypoplasia.     

Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation,Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome

Renal-coloboma syndrome, an autosomal dominant disorder associated with mutations in PAX2 , is characterized by colobomatous eye defects, renal hypoplasia, vesicoureteral reflux, high-frequency hearing loss, and rarely central nervous system abnormalities. We identified a three-generation family with optic nerve colobomatous dysplasia and renal disease. We report the identification of a novel mutation in PAX2 in this family with renal-coloboma syndrome, Arg115X. We also report on the ocular and extraocular manifestations of PAX2 mutations for all cases of renal-coloboma syndrome reported to date.     

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.     

OPTIC NERVE HYPOPLASIA: CHANGING PERSPECTIVES

Optic nerve hypoplasia, having once been regarded as exceedingly rare, is now regarded as one of the major causes of visual loss in infancy. Recognition of subtle forms and segmental forms of optic nerve hypoplasia are important in explaining the evaluation of subnormal vision. and have an added significance in the recognised associations of central nervous system anomalies including abnormalities of the endocrine system. These changing clinical perspectives are reviewed, together with a discussion of the pathogenesis of optic nerve hypoplasia in the light of cell death and nerve fibre degeneration seen in normal development of the neural visual system.     

Optic nerve hypoplasia: Risk factors and epidemiology

OBJECTIVES: To study the epidemiology of optic nerve hypoplasia. DESIGN AND METHODS: Children with optic nerve hypoplasia and visual impairment were identified through the Swedish Register of Visually Impaired Children. Pre- and perinatal characteristics were obtained from the Medical Birth Registry and by scrutinizing pregnancy and delivery records. Clinical characteristics of children with optic nerve hypoplasia are described. The following risk factors were studied: maternal age, parity, maternal smoking, gestational duration, birth weight, delivery method, Apgar score, maternal disease during pregnancy, drugs used in early pregnancy. RESULTS: Young maternal age, first parity, maternal smoking, preterm birth and factors associated with preterm birth were risk factors for optic nerve hypoplasia. There was an indicated association with the use of fertility drugs and antidepressant drugs. CONCLUSIONS: Optic nerve hypoplasia is apparently associated not only with other anomolies, notably of the central nervous system, but also with signs of general disturbance in fetal development.