Diagnosis Of Optic Nerve Hypoplasia Research Articles

Orbital MRI versus fundus photography in the diagnosis of optic nerve hypoplasia and prediction of vision

IntroductionIn 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...

Ocular, Neurologic and Systemic Findings of the Cases with Optic Nerve Hypoplasia

Aim: To describe the associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia (ONH) and to evaluate the relationship between ocular signs and neurologic findings. Method: A retrospective chart review of 53 patients with the diagnosis of ONH seen between December 1998 and September 2012 was performed. All neurodevelopmental anomalies, neuroradiologic findings, endocrinologic and systemic findings were recorded. Poor vision was defined as the visual acuity poorer than logMAR 1.0 or inadequate central steady maintained fixation. Results:Thirty (56.6%) of the 53 children with ONH were boys. Mean age at presentation was 56.2±46.8 months (range; 3 months to 18 years). Poor vision defined for the purpose of this study was found in 47.2% of 53 patients. Thirty-three (62.3%) children had nystagmus. Thirty-four (64.2%) children had strabismus. Thirteen (38.2%) of those with strabismus had esotropia, 20 (58.8%) had exotropia. The total number of the children with neurodevelopmental deficit was 22 (41.5%) in our study. Conclusion:The vision of young children with ONH should be monitored at least annually, and any refractive errors should be treated. Neuroimaging of the brain and endocrinologic evaluation is necessary in all cases with ONH.

Septo-optic dysplasia complex: Clinical and radiological manifestations in Omani children

Background:Septo-optic dysplasia (SOD), also known as de-Morsier's syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia (ONH), pituitary gland hypoplasia, and midline abnormalities of the brain including absence of septum pellucidum and corpus callosum dysgenesis. It is typically diagnosed in infancy and has a variable presentation that includes visual, neurologic, and/or hypothalamic-pituitary endocrine deficits.Purpose:To demonstrate the ophthalmic, endocrine, and neurologic spectrum of SOD in five Omani children and address the crucial role of high-resolution neuroimaging for its early and accurate diagnosis.Materials and Methods:A retrospective chart review was performed in 2010 of all children in the pediatric ophthalmology database of Sultan Qaboos University Hospital (SQUH) who were diagnosed to have ONH. All relevantdemographic, ophthalmic, neurologic, endocrine, and neuro-radiological manifestations were recorded in a data collection form. All previous neuroimaging results were reviewed by a neuro-radiologist.Results:Five patients (four males, one female) with the diagnosis of ONH were included in the study. They presented during the period 1998-2008. All patients were born at term, with normal birth weights to healthy mothers with insignificant antenatal history. Age at presentation ranged from three months to one year. Manifestations at presentation included severe visual impairment (5/5), neonatal hypoglycemia (3/5), seizure disorder (2/5), and failure to thrive (4/5). ONH was bilateral in 3/5 patients and unilateral in (2/5). Brain and orbit imaging revealed varying anomalies in all patients. These included absent septum pellucidum (3/5), severe corpus callosum agenesis (1/5), ectopic pituitary (5/5), falx cerebri deficiency (1/5), optic nerve hypoplasia (5/5), optic chiasmal hypoplasia (5/5), and olfactory tract hypoplasia (1/5). Endocrine deficits were detected in 4/5 patients (3 with panhypopituitarism, and 1 with growth hormone deficiency) and necessitated replacement therapy.Conclusion:SOD is a clinically heterogeneous disorder with a wide spectrum of ophthalmic, endocrine, and neurologic manifestations. All features might not be present in a single patient. A high consanguinity rate and lack of history of alcohol and drug use were observed in our cohort. Most affected children present first to the pediatrician with failure to thrive. Radiological confirmation of ONH necessitates high-resolution imaging and interpretation by an experienced neuro-radiologist. In our cohort, all patients with ONH had associated optic chiasmal hypoplasia. Early detection and treatment reduces disease-related morbidity, and can be life saving.

Septo-Opticdysplasia with an Anterior Encephalocele and Intact Septum Pellucidum: A Case Report

Objectivediagnosis of de Morsier syndrome or septo-optic dysplasia is made on the basis of the diagnosis of optic nerve hypoplasia. Septo-optic dysplasia is defined by a variable combination of dysgenesis of midline brain structures including optic nerve hypoplasia and hypothalamic-pituitary dysfunction often associated with a wide variety of brain malformations of cortical development. The importance of direct ophthalmoscopy of optic nerve abnormalities is stressed, as well as of magnetic resonance imaging, which has become a guideline in the classification of this syndrome This article reports a 19-year-old female with bilateral optic nerve hypoplasia, anterior encephalocele and intact septum pellucidum. She was diagnosed with diabetes insipidus, short stature and the history of seizure.

Reduced vision as a presenting feature of rhombencephalosynapsis

Rhombencephalosynapsis is a rare congenital abnormality of the cerebellum; there is limited literature of neuro-ophthalmologic features associated with this disease. We report a case identified following the diagnosis of optic nerve hypoplasia.

Value of the Heidelberg Retinal Tomograph in Optic Nerve Hypoplasia

A case of optic nerve hypoplasia (ONH) is reported to demonstrate the value of the Heidelberg Retinal Tomograph II (HRT) in assisting with the diagnosis. An 8-year-old black male was referred to our clinic for evaluation of right esotropia and presumed amblyopia. Best-corrected visual acuities were 20/60 OD (right eye) and 20/25 OS (left eye). Cover test showed constant right esotropia, measuring 10 at distance and 16 at near. A smaller optic nerve head was detected OD with absence of the double ring sign. The findings of HRT were consistent with a diagnosis of unilateral ONH, with a disc area of 1.545 mm OD vs. 2.527 mm OS. The clinical features, management, and associations of ONH are discussed. HRT is a useful tool to assist in diagnosis of ONH by physically measuring the optic nerve.

Neuroradiographic, Endocrinologic, and Ophthalmic Correlates of Adverse Developmental Outcomes in Children With Optic Nerve Hypoplasia: A Prospective Study

Developmental delay has been reported to occur with optic nerve hypoplasia, a leading cause of pediatric blindness, but has not been systematically examined for its prevalence and correlation with associated pathologies of optic nerve hypoplasia. The purpose of this study was to determine the developmental outcomes of children with optic nerve hypoplasia and the correlation of development with neuroradiographic, endocrinologic, and ophthalmic findings. We conducted a prospective analysis of 73 subjects diagnosed with optic nerve hypoplasia at <36 months of age for developmental outcomes at 5 years of age. Subjects underwent neuroradiographic imaging, endocrinologic testing and examination, and ophthalmologic examination; developmental outcomes were assessed by using the Battelle Developmental Inventory. At 5 years of age, developmental delay was present in 71% of subjects with optic nerve hypoplasia. Of patients with unilateral (18%) and bilateral optic nerve hypoplasia, 39% and 78%, respectively, experienced developmental delay. Corpus callosum hypoplasia and hypothyroidism were significantly associated with poor outcome in all of the developmental domains and an increased risk of delay. Absence of the septum pellucidum was not associated with adverse development. Six subjects had neither a neuroradiographic nor an endocrinologic abnormality, and of those, 4 were developmentally delayed. These prospective data confirm the significant association of developmental delay with optic nerve hypoplasia and identify corpus callosum hypoplasia and hypothyroidism as strong correlates. A diagnosis of optic nerve hypoplasia warrants neuroradiographic and endocrinologic testing for risk factors of delay and developmental assessments for early intervention planning.

Septo-optic dysplasia in combination with a pigmented skin lesion: a case report with nosological discussion

In this case report a patient with bilateral optic nerve hypoplasia, schizencephaly and a pigmented skin lesion is described. The diagnosis of de Morsier syndrome or septo-optic dysplasia is put forward on the basis of the diagnosis of optic nerve hypoplasia. The differential diagnosis with Jadassohn's naevus phakomatosis is discussed. The importance of direct ophthalmoscopy of optic nerve abnormalities is stressed, as well as of magnetic resonance imaging, which has become a guideline in the classification of this syndrome.

An appraisal of the disc–macula distance to disc diameter ratio in the assessment of optic disc size

The disc–macula distance to disc diameter ratio (DM:DD ratio) has been advocated as a method of supporting the diagnosis of optic nerve hypoplasia. A DM:DD ratio of 3.00 has been claimed to be a satisfactory threshold value for this purpose. This study has critically evaluated the above claim and found a value of 3.00 to be too low. The threshold DM:DD ratio values for the diagnosis of unequivocal ONH for an adult population, 5 and 2 years of age were found to be respectively 4.20, 3.93 and 3.70, the values for the diagnosis of mild ONH being 3.68, 3.44 and 3.23. Lower computed values reduce the predictive power. The method of computation of the DM:DD ratio was modified to abolish potential error due to disc rotation and foveal displacement. In an adult population, there was no correlation between the DM:DD ratio and amblyopia or disc ovalness. There was a trend of increasing DM:DD ratio towards myopia and decreasing DM:DD ratio towards hypermetropia; the DM:DD ratio may therefore be falsely high in high myopia. DM:DD ratio values below threshold should therefore be interpreted with care until formal optic disc biometry can be performed.

An appraisal of the disc-macula distance to disc diameter ratio in the assessment of optic disc size.

The disc-macula distance to disc diameter ratio (DM:DD ratio) has been advocated as a method of supporting the diagnosis of optic nerve hypoplasia. A DM:DD ratio of 3.00 has been claimed to be a satisfactory threshold value for this purpose. This study has critically evaluated the above claim and found a value of 3.00 to be too low. The threshold DM:DD ratio values for the diagnosis of unequivocal ONH for an adult population, 5 and 2 years of age were found to be respectively 4.20, 3.93 and 3.70, the values for the diagnosis of mild ONH being 3.68, 3.44 and 3.23. Lower computed values reduce the predictive power. The method of computation of the DM:DD ratio was modified to abolish potential error due to disc rotation and foveal displacement. In an adult population, there was no correlation between the DM:DD ratio and amblyopia or disc ovalness. There was a trend of increasing DM:DD ratio towards myopia and decreasing DM:DD ratio towards hypermetropia; the DM:DD ratio may therefore be falsely high in high myopia. DM:DD ratio values below threshold should therefore be interpreted with care until formal optic disc biometry can be performed.

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, Göteberg 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 yndrome, 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. (J AAPOS 29;3:212-20)

Diagnostic value of magnetic resonance imaging and planimetric measurement of optic disc size in confirming optic nerve hypoplasia

Purpose: This study set out to evaluate magnetic resonance imaging (MRI) and measurement of optic disc size as diagnostic tools for confirming the diagnosis of optic nerve hypoplasia (ONH) in children with impaired growth. Methods: MRI was performed to study the size of the intracranial visual pathways, and image analysis measurements of fundus photographs were performed to determine the size of the optic disc. Results from these investigations were compared with those using the gold standard for diagnosis of ONH, which was the clinical eye examination (visual function, ophthalmoscopic signs, or both). Forty children (median age, 9 years; range, 3 to 19 years) with impaired growth were included in the study. Results: The prevalence of ONH among the children was 15%. MRI classification of the visual pathways had a higher positive predictive value than image analysis measurement of the optic disc size (1.0 vs 0.6). Conclusions: MRI is a good tool for confirming the diagnosis of ONH and may thus facilitate early detection. On the other hand, a small optic disc per se is not a definite indicator of ONH but should encourage further investigation with MRI, especially if there is a clinical suspicion of ONH. (J AAPOS 1999;3:104-8)

Clinical Assessment, Optic Disk Measurements, and Visual-Evoked Potential in Optic Nerve Hypoplasia

Because there is a broad spectrum of visual dysfunction in eyes with optic nerve hypoplasia, we determined whether any clinical observations, including optic disk measurements, could predict visual outcome in eyes with hypoplastic optic nerves. We prospectively studied the eyes of 19 children (eight consecutive and 11 randomly selected), ages 7 to 92 months, in whom a diagnosis of optic nerve hypoplasia was made by an ophthalmologist. Clinical assessment included visual acuity, pupillary responses, and nystagmus. The ratio of the horizontal disk diameter to the disk-macula distance was calculated from fundus photographs. The amplitude and latency of the flash visual-evoked potential as well as the threshold response to pattern reversal checks were recorded. Visual acuity was associated with pupil reactivity, nystagmus, the ratio of the horizontal disk diameter to the disk-macula distance, pattern visual-evoked potential threshold, and flash visual-evoked potential amplitude (P < .001 for all parameters). All eyes with a ratio of the horizontal disk diameter to the disk-macula distance greater than .30 had good visual acuity, and all eyes with a ratio of the horizontal disk diameter to the disk-macula distance less than .30 had poor visual acuity. No eye with a ratio of the horizontal disk diameter to the disk-macula distance less than or equal to .15 had visual acuity better than light perception. Visual-evoked potential and photogrammetric measurement of relative disk size can be used to approximate visual acuity in eyes with optic nerve hypoplasia. This finding could lead to a diagnostic criterion or a severity classification for optic nerve hypoplasia.

Reappraisal of the ratio of disc to macula/disc diameter in optic nerve hypoplasia.

The ratio of disc to macula/disc diameter is characteristically increased in eyes with optic nerve hypoplasia. We present the largest reported series of patients with a definitive diagnosis of optic nerve hypoplasia for whom this ratio has been determined. All measurements were made by an independent masked observer. Our results are in accordance with previous reports. A ratio of 2.94 provides a one-tailed upper population limit of 95%. An attempt has been made to correlate optic disc size and visual acuity. In 75% of bilateral cases the eye with the relatively smaller optic disc was found to have a better Snellen visual acuity than the fellow eye. This suggests that additional pathogenic mechanism(s) may have determined the eventual visual outcome in such eyes. Such mechanisms include macular hypoplasia, high refractive error, refractive amblyopia, central scotoma, and optic atrophy.

Optic Nerve Hypoplasia

High-resolution magnetic resonance images of the intracranial optic nerves and chiasm were obtained in 15 patients with severe optic nerve hypoplasia. These were compared, in a double-blind manner, with similar images from 30 age-matched controls. On both coronal and sagittal images, hypoplastic optic nerves were thin and demonstrated signal attenuation when compared with normal optic nerves. All patients with severe bilateral optic nerve hypoplasia also had diffuse chiasmal hypoplasia, which was seen best on coronal images. Patients with unilateral or asymmetrical optic nerve hypoplasia had variable chiasmal abnormalities. The degree to which the magnetic resonance diagnosis of optic nerve hypoplasia matched the clinical diagnosis was highly significant (P less than .001, Fisher's Exact Test) for both coronal and sagittal views of the intracranial optic nerves. Oblique axial and coronal views of the orbital optic nerves did not reliably distinguish optic nerve hypoplasia from normal optic nerves. High-resolution magnetic resonance imaging is a useful diagnostic modality to identify small optic nerves neuroradiologically.

Simple photogrammetric diagnosis of optic nerve hypoplasia.

It is often clinically important, but also often difficult, to make a definitive morphologic diagnosis of optic nerve hypoplasia in a young child. If, however, one can obtain a photograph of the fundus, including the optic disc, one can make a simple measurement of the horizontal diameter of the optic disc and make this diagnosis. To determine if the horizontal diameter of the optic disc on a 35-mm photographic transparency could be used to separate patients with optic nerve hypoplasia from normal individuals, I measured directly on the transparency the horizontal diameter of the optic disc image taken by a standard 30 degrees field fundus camera with X2.5 magnification in a series of 55 normal eyes, and in 16 eyes with clinically confirmed optic nerve hypoplasia. For the normal series of eyes, the mean optic disc horizontal image diameter was 3.88 mm, with a range of 3.44 to 4.70 mm. For the series of eyes with optic nerve hypoplasia, the mean horizontal diameter was 2.64 mm, with a range of 1.80 to 3.27 mm. There was no overlap between the normal control series and the pathologic series. In subjects with no major ametropia (less than 2.5 diopters of spherical or cylindrical refractive error), a 3.4-mm horizontal diameter optic disc image on a 35-mm transparency can be used as a clinical guide or dividing line for the diagnosis of optic nerve hypoplasia, larger nerves being considered normal and smaller nerves being considered hypoplastic.

The Disc-Macula Distance to Disc Diameter Ratio: A New Test for Confirming Optic Nerve Hypoplasia in Young Children

The disc-macula: disc diameter (DM:DD) ratio is the ratio of the horizontal distance between the center of the optic disc and the macula to the mean diameter of the optic disc, as evaluated from fundus photographs. The diagnosis of optic nerve hypoplasia may be difficult in cases in which the optic discs are slightly reduced in size, or when the double ring sign is absent and the condition is bilateral. The DM:DD ratio was calculated for six eyes of five children with ophthalmoscopically obvious optic nerve hypoplasia, 12 eyes of six children in whom the diagnosis of optic nerve hypoplasia was equivocal (but established by visual field examination and retinal red free photography), 13 eyes of eight children with optic atrophy, and 25 eyes of 17 children with normal optic discs. The DM:DD ratio was found to be significantly higher for both groups with optic nerve hypoplasia than for those with optic atrophy and the normal controls. For practical purposes, when the DM:DD ratio is greater than 3.0, the diagnosis of optic nerve hypoplasia should be seriously considered.