Inherited or Congenital Optic Nerve Diseases

Visual Fields ◽  
2010 ◽  
Author(s):  
Peter A. Quiros ◽  
Alfredo A. Sadun
Keyword(s):  
Optic Nerve ◽  
Optic Disc ◽  
Case Reports ◽  
Visual Fields ◽  
Maternal Diabetes ◽  
Disc Center ◽  
Double Ring ◽  
Optic Nerve Diseases ◽  
Disc Size ◽  
Optic Disc Anomaly

In this chapter, we discuss inherited/congenital optic nerve diseases and their related visual fields defects. It is important for the ophthalmologist to establish, on the basis of the visual fields defect whether the optic nerve is involved and, if so, whether this is at the level of the optic disc or further back. In addition, the visual fields defect can help establish whether the etiology is acquired or congenital. If the former is the case, then the visual fields defect may reveal an insult that is rapidly progressive and hence requires immediate and aggressive management. The diseases are divided into the categories of congenital optic disc anomalies and heredodegenerative optic atrophies. Congenital optic disc anomalies include aplasias, dysplasias (hyperplasia and hypoplasia), optic nerve colobomas and pits, anomalous disc elevations: pseudopapilledema with or without hyaline bodies (drusen), and tilted disc and crescents. Absence of the optic disc (aplasia) is extremely rare and only a few case reports have been published in the literature. Optic disc size varies and may be larger (hyperplasia) or smaller (hypoplasia) than normal. Hyperplasia is much less common than hypoplasia and is usually related to ametropias. Optic nerve hypoplasia (ONH) may be unilateral or bilateral and isolated or associated with different syndromes. It may be associated with good or poor visual prognosis. It is the most common congenital optic disc anomaly encountered in pediatric ophthalmic practice. When the nerve head is slightly or segmentally reduced, especially in the presence of normal visual acuity, the diagnosis is based on comparison of disc photographs or calculation of the ratio of the disc center-to-fovea distance to disc diameter. Usually this ratio is increased in hypoplasia and, if higher than 3.0, is almost diagnostic. Sometimes the hypoplastic disc is surrounded by a ring of sclera and a ring of hyperpigmentation, described as “double-ring sign”. Maternal diabetes and use of teratogenic agents such as phenytoin, alcohol, quinine, and cocaine may be associated with ONH.

Is a virtual clinic model a safe and effective way for assessing patients referred with suspiciously blurred optic discs? The blurred disc clinic

2020 ◽  
pp. 112067212097604
Author(s):  
Joanna M Jefferis ◽  
Nigel Griffith ◽  
Daniel Blackwell ◽  
Ruth Batty ◽  
Simon J Hickman ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Optic Disc ◽  
Direct Contact ◽  
Visual Fields ◽  
Referral Letter ◽  
Face To Face ◽  
The Face ◽  
Optic Discs ◽  
Eye Clinic ◽  
Virtual Clinic

Background: There are increasing numbers of referrals to ophthalmology departments due to blurred optic disc margins. In light of this and the COVID-19 pandemic we aimed to assess whether these patients could be safely assessed without direct contact between the clinician and patient. Methods: We retrospectively reviewed the records of consecutive patients seen in our ‘blurred disc clinic’ between August 2018 and October 2019. We then presented anonymous information from their referral letter, their visual fields and optic nerve images to two consultant neuro-ophthalmologists blinded to the outcome of the face-to-face consultation. In the simulated virtual clinic, the two consultants were asked to choose an outcome for each patient from discharge, investigate or bring in for a face-to-face assessment. Results: Out of 133 patients seen in the blurred disc clinic, six (4.5%) were found to have papilloedema. All six were identified by both neuro-ophthalmologists as needing a face-to-face clinic consultation from the simulated virtual clinic. One hundred and twenty (90%) patients were discharged from the face-to-face clinic at the first consultation. The two neuro-ophthalmologists chose to discharge 114 (95%) and 99 (83%) of these respectively from the simulated virtual clinic. The virtual clinic would have potentially missed serious pathology in only one patient who had normal optic discs but reported diplopia at the previous face-to-face consultation. Conclusions: A virtual clinic model is an effective way of screening for papilloedema in patients referred to the eye clinic with suspicious optic discs. Unrelated or incidental pathology may be missed in a virtual clinic.

Is the Blind Spot Enlarged in Early Glaucoma?

1998 ◽  
Vol 8 (1) ◽  
pp. 28-32 ◽  
Author(s):  
J.H. Meyer ◽  
M. Guhlmann ◽  
J. Funk
Keyword(s):  
Optic Disc ◽  
Visual Fields ◽  
Stimulus Presentation ◽  
Light Sensitivity ◽  
Blind Spot ◽  
Control Group ◽  
Horizontal Meridian ◽  
Early Glaucoma ◽  
Disc Center ◽  
Optic Discs

Purpose We investigated whether the blind spot is larger in early “preperimetric” glaucoma with already deeply excavated optic discs than in normal persons. Methods We examined eight eyes of five patients with definite glaucomatous optic disc cupping but normal visual fields. Ten eyes of five normal healthy volunteers, with normal central excavation, served as controls. With SLO-perimetry we measured the differential light sensitivity 0.5-1.0° outside the disc margins, “within” the center (Goldmann V stimulus) and along the horizontal meridian of the optic discs. Optic disc topography was documented with the Heidelberg Retina Tomograph (HRT). Results Differential light sensitivities adjacent to the optic discs did not differ in the two groups (normal 8.3dB, early glaucoma 8.4dB). Goldmann IV stimuli presented on the horizontal meridian of optic discs with glaucomatous cupping were seen up to 0.7° centrally (i.e., towards the center) of the disc margin. In the control group this distance was significantly greater (1.3°). The light differential thresholds with stimulus presentation in the disc center (Goldmann V) were significantly higher in the glaucoma group (0±2.8dB) than in the normal controls (6.6±1.3dB), though disc size was the same in both groups. Conclusions Blind spots of normal discs seem to be smaller than those of deeply excavated discs in eyes with early glaucoma, possibly because there is more light scattering by the normal disc surface towards the adjacent functioning retina.

scholarly journals Choroidal Neovascularization in Congenital Disorders of the Optic Nerve

2007 ◽  
pp. 303-307
Keyword(s):  
Optic Nerve ◽  
Optic Disc ◽  
Choroidal Neovascularization ◽  
Young Age ◽  
Age Related Macular Degeneration ◽  
Age Group ◽  
Important Place ◽  
Optic Nerve Diseases ◽  
Age Related ◽  
Optic Disc Drusen

Choroidal neovascularization is one of the most important visual losses seen in developed countries and is usually associated with age-related macular degeneration in the older age group. Choroidal neovascular membranes seen at a young age may be associated with pathologic myopia and ocular histoplasmosis; the idiopathic group also has an important place. Congenital optic nerve diseases are an important but rare disease group that makes peripapillary choroidal neovascularization in the young age group. Under these headings, besides isolated congenital optic nerve anomalies such as tilted disc, optic disc drusen, optic pit, and myelinated nerve fiber; anomalies showing serious neurological deficits such as optic disc coloboma, morning glory anomaly, optic nerve hypoplasia can also be counted. In this review, pathophysiology and treatment of the togetherness of optic nerve diseases and the neovascular membrane will be evaluated.

scholarly journals Evaluation of optic disc size in patients with optic nerve head drusen using fundus photography

2013 ◽  
Vol 6 (2) ◽  
pp. 75-79 ◽  
Author(s):  
Pablo Gili ◽  
Patricia Flores-Rodríguez ◽  
Julio Yangüela ◽  
Javier Orduña-Azcona ◽  
María Dolores Martín-Ríos
Keyword(s):  
Optic Nerve ◽  
Optic Disc ◽  
Optic Nerve Head ◽  
Fundus Photography ◽  
Optic Disc Size ◽  
Optic Nerve Head Drusen ◽  
Disc Size

scholarly journals Optic disc size and optic nerve damage in normal pressure glaucoma.

1995 ◽  
Vol 79 (12) ◽  
pp. 1102-1105 ◽  
Author(s):  
J B Jonas ◽  
J Sturmer ◽  
K I Papastathopoulos ◽  
F Meier-Gibbons ◽  
A Dichtl
Keyword(s):  
Optic Nerve ◽  
Optic Disc ◽  
Normal Pressure ◽  
Nerve Damage ◽  
Optic Nerve Damage ◽  
Optic Disc Size ◽  
Normal Pressure Glaucoma ◽  
Disc Size

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

2020 ◽  
Vol 104 (10) ◽  
pp. 1458-1461
Author(s):  
Jacqueline Kruglyakova ◽  
Pamela Garcia-Filion ◽  
Marvin Nelson ◽  
Mark Borchert
Keyword(s):  
Visual Acuity ◽  
Optic Nerve ◽  
Optic Disc ◽  
Optic Nerve Hypoplasia ◽  
Fundus Photography ◽  
Optic Nerve Diameter ◽  
Mri Scans ◽  
Moderate Sensitivity ◽  
Disc Size ◽  
Mri Measurements

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 for diagnosis has been reported as a diagnostic alternative with conflicting results. We retrospectively analysed a disease registry to determine the reliability of orbital MRI measurements of the optic nerve diameter to diagnose ONH, and the correlation with vision outcomes.Materials and methodsFrom a cohort of 140 patients with ONH (13% unilateral) that had reached age 5 years, we identified 43 subjects who had orbital MRI in addition to fundus photography performed prior to 2 years of age. We compared measurements of the optic nerve diameter from orbital MRI scans to the standard relative optic disc size (disc diameter/disc-macula (DD/DM) distance) by fundus photography. All patients had visual acuity tested at age 5 years. Spearman’s correlation coefficient was used to determine the correlation of orbital MRI measurements and fundus photography with the diagnosis of ONH, and with vision outcomes.ResultsRelative disc size (DD/DM)<0.35 showed 100% sensitivity and 100% specificity for the diagnostic confirmation of ONH. The optic nerve diameter measurements by orbital MRI displayed a moderate correlation (rs=0.471; p<0.001) with DD/DM and moderate sensitivity for the diagnosis of ONH. Final visual acuity correlated well with DD/DM measurements by fundus photography (rs=−0.869; p<0.001) and moderately with optic nerve diameter by orbital MRI (rs=−0.635; p<0.001).DiscussionOrbital optic nerve diameter from MRI scans has moderate reliability in diagnosing ONH and predicting vision outcomes. Fundus photography for measurements of the optic nerve size should remain the reference for diagnostic confirmation of ONH. These data further support the prognostic value of fundus photography for eventual vision outcomes in this population.

scholarly journals Complete reversal of bilateral optic nerve infiltration from lymphoblastic leukemia using chemotherapy without adjuvant radiotherapy

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Douglas Rodrigues da Costa ◽  
Rodrigo Dahia Fernandes ◽  
Fernanda Nicolela Susanna ◽  
Epitácio Dias da Silva Neto ◽  
Mario Luiz Ribeiro Monteiro
Keyword(s):  
Optic Nerve ◽  
Optic Disc ◽  
Adjuvant Radiotherapy ◽  
Case Reports ◽  
Lymphoblastic Leukemia ◽  
Previous History ◽  
Leukemic Cells ◽  
Allogenic Bone ◽  
First Case ◽  
History Of

Abstract Background Leukemic involvement of the eyes is rare, therefore, treatment relies on previous case reports. The treatment of ocular complications poses additional difficulties, because the eye is considered as a pharmacological “sanctuary” for patients with acute lymphoblastic leukemia (ALL). Therefore, radiotherapy is the main therapeutic choice; however, it might lead to many important side effects. To the best of our knowledge, this is the first case report of a bilateral leukemic optic nerve infiltration that remitted with chemotherapy without adjuvant radiotherapy. Case presentation A 30-year-old female patient with previous history of remitted ALL presented with a one-week history of floaters in her right eye. Her ophthalmological exam showed remarkable optic disc swelling, in both eyes. She was diagnosed with ALL relapse presenting as a bilateral optic nerve leukemic infiltration. Local radiotherapy was planned for both eyes, however, due to efficient recovery with chemotherapy, it was cancelled. Allogenic bone marrow transplantation was subsequently performed. The patient is being followed up and ALL remitted. Conclusion Leukemia relapse on central nervous system, despite rare, is a sign of poor prognosis and requires prompt treatment. Its occurrence on ocular tissues is even rarer. It is hypothesized that the blood-brain barrier limits the delivery of chemotherapeutic drugs to the eye and infiltration of the optic nerve by leukemic cells might prejudice the flow of cerebrospinal fluid between the cranial space and the optic disc.

Sign in / Sign up

Export Citation Format

Share Document