Segmental Optic Nerve Hypoplasia Research Articles

Superior segmental optic nerve hypoplasia with normotensive glaucoma: A case report

We report a 27-year-old woman with a cup disk ratio of 0.75:1, with a focal superior neuroretinal rim loss and corresponding nerve fiber layer defect in both eyes. Intraocular pressure was 10 mm Hg in both eyes with normal anterior segment. Perimetry showed inferior arcuate defects in both eyes. A diagnosis of superior segmental optic nerve hypoplasia (SSOH) was made. On follow-up, there was progression in field defects, which were confirmed by repeat field tests, despite normal intraocular pressures. We concluded that there was coexisting normotensive glaucoma (NTG) in this patient.

Diagnostic value of three-dimensional neuroretinal rim thickness for differentiation of superior segmental optic nerve hypoplasia

Little is known about the diagnostic utility of three-dimensional neuroretinal rim thickness (3D-NRRT) for differentiating patients with superior segmental optic nerve hypoplasia (SSOH) from normal-tension glaucoma (NTG). Since SSOH is defined by characteristic optic nerve head features, investigation of diagnostic usefulness of 3D-NRRT is necessary. In this cross-sectional study, 49 SSOH eyes, 52 NTG eyes, and 41 normal eyes were enrolled. Retinal nerve fiber layer thickness (RNFLT) and 3D-NRRT values, as obtained in the right-eye orientation by optical coherence tomography (OCT), were recorded. On RNFLT clock-hour comparison, the 11–3 clock-hour sectors were significantly thinner for SSOH than for NTG (all P < 0.01). As for 3D-NRRT, whereas the 1 and 2 sectors were significantly thinner for SSOH (P < 0.001, P = 0.004), the 6–11 sectors were significantly thinner for NTG (all P < 0.01). The area under receiver operating characteristic (AUROC) curves of the superior and nasal quadrants of RNFLT (0.838, 0.729) were significantly greater than those of 3D-NRRT (0.518, 0.588; P < 0.001, P = 0.043). However, the AUROCs of the inferior and temporal quadrants were significantly greater for 3D-NRRT (0.728, 0.760) than for RNFLT (0.527, 0.550; P = 0.008, P = 0.019). The appropriate use of 3D-NRRT can be useful in differentiating SSOH from NTG.

Functional Amblyopia in Segmental Optic Nerve Hypoplasia

A 5-year-old boy had a visual acuity of 20/80 in the right eye (OD) and 20/20 in the left eye (OS). Examination showed anisometropia (+1.00 OD and plano OS) without strabismus. Retinal examination demonstrated segmental hypoplasia of the temporal optic disc with absence of the corresponding retinal nerve fiber layer (Fig A-B). Despite a structural defect involving the temporal disc and papillomacular bundle, combined treatment with glasses providing his full cycloplegic refraction and part-time occlusion OS resulted in visual improvement to 20/20 OD.

Long-term Changes of Retinal Nerve Fiber Layer Thickness in Superior Segmental Optic Nerve Hypoplasia

Long-term Changes of Retinal Nerve Fiber Layer Thickness in Superior Segmental Optic Nerve Hypoplasia

Optic Disc Anomalies with Anomalous Disc Size

Optic disc anomalies are etiologically divided into two categories: congenital and acquired. Congenital optic disc anomalies are usually diagnosed with the appearance of the optic disc and anomalies in the retina surrounding it. As a general rule, these anomalies are classified according to optic disc size, conformation, and the presence of abnormal tissue in the optic nerve head. In our study, optic nerve anomalies with abnormal disc size (congenital tilted disc syndrome, optic nerve hypoplasia, segmental optic nerve hypoplasia, homonymous hemioptic hypoplasia, optic disc dysplasia, papillorenal syndrome, and megalopapilla) are discussed. Visual acuity decrease or loss is often seen in these anomalies, increasing the clinical importance of the diseases. In addition, since congenital optic disc anomalies with abnormal disc size may be a part of an isolated or systemic malformation; early diagnosis and treatment gain importance to improve visual acuity if possible, if not, to optimize, and to evaluate other accompanying ocular and systemic disorders. A multidisciplinary approach is required for the diagnosis and follow-up of neurological, endocrinological, and renal anomalies in children with optic nerve anomalies. When deemed necessary, the clinician should not hesitate to cooperate with the relevant departments or direct the patient to centers where a more inclusive health service can be obtained.

Superior Segmental Optic Nerve Hypoplasia Presenting With Exotropia and Nystagmus – Case Report

Superior segmental optic nerve hypoplasia (SSONH) is a developmental disorder of the disc with unclear pathogenesis causing inferior altitudinal field loss. Dissociated vertical deviation (DVD) usually occurs with unequal visual input owing to early strabismus like infantile esotropia. Occurrence of DVD in a case of SSONH as a presenting complaint has never been reported earlier. We report a case of a young boy with SSONH presenting with exotropia and DVD. Our case shows the occurrence of dissociated strabismus like DVD in child with inferior altitudinal field loss owing to SSONH which is noted as a rare association

Optical Coherence Tomography Angiography Findings in Superior Segmental Optic Nerve Hypoplasia

Optical Coherence Tomography Angiography Findings in Superior Segmental Optic Nerve Hypoplasia

Comparison of the Deep Optic Nerve Structures in Superior Segmental Optic Nerve Hypoplasia 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 optic nerve hypoplasia (SSOH) in comparison with that in primary open-angle glaucoma (POAG). Thirty-five eyes with SSOH, 37 eyes with POAG, and 54 healthy control eyes underwent enhanced depth imaging (EDI) volume scanning of the optic nerve using spectral-domain optical coherence tomography (SD-OCT). POAG patients were matched with SSOH patients in terms of the thickness of the neuroretinal rim and the retinal nerve fiber layer in the superior sector. The lamina cribrosa thickness (LCT) was determined in 3 equidistant planes, and anterior lamina cribrosa surface depth (LCD) was determined in 5 equidistant planes. The measurements were compared between groups, and the areas under the receiver operating characteristic curves (AUC) were obtained for each parameter. Eyes with SSOH had larger LCT and smaller LCD than POAG eyes at all locations (all P<0.001). The largest LCT was observed at the superior midperiphery in the SSOH group, but at central locations in both the POAG and control groups. The best parameters for discriminating the SSOH from glaucoma and healthy eyes were the superior midperipheral LCT (AUC=0.973) and inferior and inferior midperipheral LCD (AUCs=0.906), respectively. The LCT and LCD exhibited characteristic features in eyes with SSOH that were distinctive from those of POAG and healthy eyes. Investigation of the deep optic nerve structure using EDI SD-OCT may be beneficial for differentiating between SSOH and glaucoma, which may help to avoid both overtreatment and undertreatment.

Comparing Structure-Function Correlations in Superior Segmental Optic Nerve Hypoplasia and Juvenile Open Angle Glaucoma Using Spectral-Domain Optical Coherence Tomography

Superior segmental optic nerve hypoplasia (SSOH) is a congenital anomaly of the optic nerve that is commonly misdiagnosed as normal tension glaucoma (NTG) and/or juvenile open angle glaucoma (JOAG). We demonstrate the utility of SD-OCT in assessing the structure-function correlation when differentiating between SSOH and JOAG.

Characteristics of segmental optic nerve hypoplasia

Sir, The optic disc is prone to various congenital anomalies, among which, segmental optic disc anomaly can be shown in superior segmental optic hypoplasia, an optic pit, and an optic coloboma. Here, we present a case of segmental optic nerve hypoplasia with detail descriptions.

Superior segmental optic nerve hypoplasia accompanied by progressive normal-tension glaucoma

This is the first case report of a superior segmental optic hypoplasia (SSOH) combined with normal-tension glaucoma accompanied by a progressive glaucomatous visual field defect. A 40-year-old man, incidentally diagnosed as having bilateral SSOH, had disc hemorrhage associated with expansion of the width of a retinal nerve fiber layer defect and deterioration of a visual field defect in the right eye during the follow-up period. His left eye showed a stable visual field. The diurnal variation in intraocular pressure (IOP) showed a higher mean IOP in his right eye compared with his left eye, although both IOPs remained under 21 mmHg.

Clinical distinction between nasal optic disc hypoplasia (NOH) and glaucoma with NOH-like temporal visual field defects

To report on the clinically important differences between nasal optic hypoplasia (NOH) and glaucoma with NOH-like temporal visual field defect (VFD). Five NOH (four bilateral and one unilateral) patients, three unilateral NOH patients with glaucoma, and two glaucoma patients with NOH-like temporal VFD were clinically characterized. Superior segmental optic nerve hypoplasia was also associated with glaucoma in one eye of a bilateral NOH case and the NOH eye of a unilateral NOH patient. Ocular manifestations including refractive errors, size, and appearances of the optic discs, retinal nerve fiber thickness (NFLT) ascertained by optical coherence tomography (OCT), and VFD were examined. Ophthalmic examinations revealing NOH showed high myopia at more than -5.0D, a small disc with nasal double-ring appearance, significantly decreased NFLT by OCT, and retinal nerve fiber layer defect in the corresponding nasal sector. Stationary temporal VFD varied from a slight depression of the peripheral isopters to wide sector defects. In contrast, two glaucoma patients with NOH-like temporal VFD showed several different clinical features, including mild myopia less than -5D, a normal size with glaucomatous disc cupping; a slight decrease in nasal NFLT and progression of temporal and other glaucomatous VFD. Careful evaluation of optic disc appearance and measurement of NFLT using OCT may help to distinguish between NOH and glaucoma with NOH-like temporal VFD.

Evaluation of the Optic Nerve Complex in the Orbit Using Coronal Fast Magnetic Resonance Imaging

Recently available coronal fast magnetic resonance imaging (MRI) has very high spatial resolution with good contrast between the optic nerves and cerebrospinal fluid (CSF). The aim of this study was to evaluate the diagnostic value of coronal fast imaging in optic nerve diseases. Thirty-five patients with various Neuro-ophthalmic conditions including 9 with optic neuritis, 6 with optic atrophy, 5 with glaucoma, 4 with segmental optic nerve hypoplasia and 11 with other optic neuropathies including orbital apex syndrome were evaluated with the three-dimensional fast imaging employing steady-state acquisition (FIESTA) sequence in addition to standard MRI protocols. The optic nerve complexes were evaluated on coronal images of the orbits. Detailed demonstration of the optic nerve complex—the optic nerve, the perineural CSF space and dural sheath—could be readily obtained with FIESTA sequence. The acute phase of both optic neuritis and perineuritis showed enlargement of the perineural CSF space; the optic nerve was swollen in optic neuritis but not in perineuritis. Cases of optic atrophy and glaucoma showed perineural CSF space enlargement with normal optic sheath circumference and a thinner optic nerve, while optic nerve hypoplasia showed a smaller dural sheath circumference without perineural CSF space enlargement. In the cases of orbital apex syndrome optic nerve compression by the extraocular muscles was clearly shown. Coronal FIESTA imaging of the orbit is capable of delineating detailed structural changes in the optic nerve complex and is of diagnostic value for the differentiation of optic nerve diseases.

Teaching Neuro Images : Superior segmental optic nerve hypoplasia confirmed by optical coherence tomography

A 36-year-old woman without complaints was referred for abnormal visual fields (figure 1A). She had 20/20 vision in both eyes and a right afferent pupillary defect. Fundus examination suggested superior segmental optic nerve hypoplasia (SSONH), a congenital optic nerve disorder (figure 1B). Optical coherence …

Prevalence of superior segmental optic nerve hypoplasia in Korea

To investigate the prevalence of superior segmental optic nerve hypoplasia in Korea. We reviewed the fundus photographs of 3905 individuals who were 40 years old or older and who participated in the comprehensive medical examination program at the Health Promotion Center of Seoul National University Bundang Hospital from March 2003 to December 2006. A single glaucoma specialist reviewed all the photographs, and special attention was paid to the presence of superior segmental optic nerve hypoplasia. The reviewer was masked to information other than the fundus photographs. Superior segmental optic nerve hypoplasia was detected in three eyes of three subjects, which was 0.08% of the 3905 subjects. All three eyes showed a corresponding visual field defect. Superior segmental optic nerve hypoplasia might be a rare condition in Korea.

Superior segmental optic nerve hypoplasia in youth

The clinical characteristics of superior segmental optic nerve hypoplasia (SSOH) in youth were investigated to help establish diagnostic criteria. Eleven eyes of seven young patients (male/female ratio, 3/4; age, 15.1 +/- 3.4 years) who had good visual acuity and inferior visual field defects (VFDs) were evaluated. Goldmann and Humphrey perimetries and optic disc morphology were analyzed, and the patients were prospectively followed for a long period. Visual field defects were wedge shaped and oriented to the blind spot, but discontinuous in mild cases. Nerve fiber layer defects (NFLDs) were consistent with the VFDs. The optic disc appearance was variable, with double ring signs in seven eyes, small discs in three eyes, and an incomplete topless disc in one eye. The mothers of none of the patients had gestational diabetes. Visual field defects did not progress during the prospective 8.3 +/- 1.3 years follow-up. Characteristic VFD patterns on Goldmann perimetry and corresponding NFLDs are important in the diagnosis of SSOH, but not optic disc morphology.

Superior segmental optic nerve hypoplasia: The topless disc syndrome

Background Optic nerve hypoplasia is a well-known congenital maldevelopment presenting with an abnormally small optic nerve head occupying the central aspect of a normally sized chorioscleral canal. Characteristically, the optic nerve head is surrounded by scleral anlage with a “double ring sign.” Less commonly appreciated, however, is the fact that optic nerve hypoplasia may be sectorial rather than total and involving only the superior aspect of the optic disc with corresponding inferior visual field loss. Case Report A 51-year-old woman presented with a previous diagnosis of idiopathic optic atrophy superiorly in the left eye. Detailed observation revealed that the disc was not atrophic superiorly but actually hypoplastic, and the patient received a conclusive diagnosis of superior segmental optic nerve hypoplasia. Conclusions It must be appreciated that optic nerve hypoplasia can also affect solely the superior aspect of the disc with subsequent functional deficits. It is important to differentiate this syndrome from true optic atrophy to ensure proper management.

Superior segmental optic nerve hypoplasia and diabetes mellitus

Purpose The aim of this study was to describe the ocular findings of an 8-year-old girl with bilateral superior segmental optic nerve hypoplasia (SSONH) whose mother had a history of Type 1 diabetes mellitus and to review the prior literature concerning this association. Methods Neuroophthalmic examination, including funduscopy, visual fields, optical coherence tomography, and magnetic resonance imaging (MRI) of the brain and orbits, were used. Results Bilateral inferior visual field defects prompted initial neuroophthalmic evaluation. Funduscopy revealed bilateral SSONH, worse on the right. MRI of the brain and orbits revealed hypoplastic optic nerves and a small optic chiasm. Conclusions Although the association between SSONH and maternal diabetes mellitus is a well-documented entity, prior reports have been solely in the neuroophthalmic literature. The optic discs in patients with SSONH have a characteristic appearance, which may obviate the need for additional evaluation of the visual field defects. The MRI findings of hypoplastic optic nerves and a small optic chiasm have previously not been reported. This patient underscores the importance of recognizing the association between SSONH and maternal diabetes mellitus.

Topless Optic Disks in Children of Mothers With Type I Diabetes Mellitus

Purpose: To determine the prevalence of and risk factors for superior segmental optic nerve hypoplasia in offspring of mothers with type I diabetes mellitus. Methods: Thirty-four subjects aged between 4 and 37 years, the children of 23 mothers who had type I diabetes mellitus at the time of pregnancy, aged between 4 and 37 years, were recruited from one institution and prospectively examined in search of an optic disk–related anomaly. Results: Of the 34 subjects, three females (8.8%) showed classic ophthalmoscopic and perimetric features of superior segmental optic nerve hypoplasia, bilateral in two patients and unilateral in one. Pregnancies leading to affected children showed a tendency to be shorter, birth weight to be lower, and control of maternal diabetes mellitus to be poorer compared with pregnancies resulting in unaffected children. No variable unique to the affected subjects as opposed to the unaffected majority could be identified. Conclusions: We found a superior segmental optic nerve hypoplasia, described as a “topless disk,” in three of 34 subjects (8.8%) at risk for this condition. Topless disk thus seems to be more common than was previously thought, possibly having been missed because of its subtle signs and only mild impairment of visual performance in affected individuals. Female sex, short gestation time, low birth weight, and poor maternal diabetes control may represent additional risk factors for the development of a topless disk. Its pathogenesis remains obscure, but the responsible pathogenic event may occur in the perinatal period.

The brightness‐sense comparison in patients with optic nerve hypoplasia

The brightness-sense has been assessed for a cohort of individuals with optic nerve hypoplasia, and for a group of normal subjects. It was found to be significantly impaired in the worst eye as compared to the fellow eye in patients with asymmetrical bilateral optic nerve hypoplasia. No difference in brightness between the two eyes was perceived in two patients with segmental optic nerve hypoplasia. The brightness-sense comparison test has not hitherto been applied to patients with optic nerve hypoplasia. The test is simple to use and provides an additional investigative tool for the clinician to detect optic nerve dysfunction.