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Journal of Neuro-ophthalmology : the... Mar 2022Optic nerve aplasia (ONA) is a rare ocular anomaly. We report ophthalmologic, systemic, and genetic findings in ONA.
OBJECTIVE
Optic nerve aplasia (ONA) is a rare ocular anomaly. We report ophthalmologic, systemic, and genetic findings in ONA.
METHODS
Patients were identified through an International Pediatric Ophthalmology listserv and from the practice of the senior author. Participating Listserv physicians completed a data collection sheet. Children of all ages were included. Neuroimaging findings were also recorded.
RESULTS
Nine cases of ONA are reported. Patients' ages ranged from 10 days to 2 years (median 9 months). Seven cases were bilateral. All patients had absence of the optic nerve and retinal vessels in the affected eye or eyes. Ophthalmologic findings included glaucoma, microcornea, persistent pupillary membrane, iris coloboma, aniridia, retinal dysplasia, retinal atrophy, chorioretinal coloboma, and persistent fetal vasculature. Systemic findings included facial dysmorphism, cardiac, genitourinary, skeletal, and developmental defects. A BCOR mutation was found in one patient. One patient had rudimentary optic nerves and chiasm on imaging.
CONCLUSION
ONA is a unilateral or bilateral condition that may be associated with anomalies of the anterior or posterior segment with or without systemic findings. Rudimentary optic nerve on neuroimaging in one case suggests that ONA is on the continuum of optic nerve hypoplasia.
Topics: Child; Coloboma; Humans; Infant; Neuroimaging; Optic Nerve; Optic Nerve Diseases; Retinal Vessels
PubMed: 33870948
DOI: 10.1097/WNO.0000000000001246 -
Current Opinion in Neurology Feb 1996Recent articles in the scientific literature have described major advances in our understanding of the anatomy and vascular relationships of the optic nerve (cranial... (Review)
Review
Recent articles in the scientific literature have described major advances in our understanding of the anatomy and vascular relationships of the optic nerve (cranial nerve II) and of the diagnosis and treatment of a variety of disorders affecting this nerve, including congenital anomalies of the optic disc, dominant hereditary optic neuropathy, anterior and retrobulbar arteritic and nonarteritic ischemic optic neuropathy, optic neuritis, Cuban epidemic optic neuropathy, toxic and nutritional optic neuropathies, radiation-induced optic neuropathy, AIDS-related optic neuropathy, optic neuropathies caused by tumors, and papilledema.
Topics: Humans; Optic Nerve; Optic Nerve Diseases; Optic Neuritis
PubMed: 8722657
DOI: 10.1097/00019052-199602000-00003 -
Seminars in Neurology Feb 2009The optic nerve is our most important cranial nerve. As it courses from the eyeball to the brain, it is divided into four segments: intraocular, intraorbital,... (Review)
Review
The optic nerve is our most important cranial nerve. As it courses from the eyeball to the brain, it is divided into four segments: intraocular, intraorbital, intracanalicular, and intracranial. Four tests are primarily used to assess its functional integrity and detect optic nerve disorders. These tests are described along with key funduscopic findings. The clinical features of both common as well as notable disorders that occur along the four segments are presented. For example, papilledema and anterior ischemic optic neuropathy involve the intraocular segment, dysthyroid optic neuropathy or optic nerve sheath meningiomas affect the intraorbital segment, traumatic optic neuropathy is mainly within the intracanalicular segment, and pituitary tumors and suprasellar masses compromise the intracranial segment. Ancillary clinical symptoms and signs are highlighted that assist the neurologist in understanding and localizing each disorder along one of these segments. The chief means of confirming the diagnosis, often neuroimaging, are given, and common treatment modalities are provided.
Topics: Humans; Ophthalmoscopy; Optic Nerve; Optic Nerve Diseases; Optic Nerve Injuries; Optic Neuropathy, Ischemic; Papilledema; Pituitary Neoplasms
PubMed: 19214930
DOI: 10.1055/s-0028-1124020 -
Journal of Neuro-ophthalmology : the... Jun 2022The morning glory disc anomaly (MGDA) is a rare congenital malformation of the optic disc. The association with a significant enlargement of the optic nerve has been...
BACKGROUND
The morning glory disc anomaly (MGDA) is a rare congenital malformation of the optic disc. The association with a significant enlargement of the optic nerve has been recently reported in a few cases, raising the question of potentially associated optic nerve gliomas. The objective was to report the anatomy of optic nerves on MRI in patients with MGDA.
METHODS
In this retrospective single-center study, files of patients with a clinical diagnosis of MGDA were identified through a rare disease database (CEMARA) and included. We reviewed every cerebral and orbital MRI available, performed between 2008 and 2018. Anatomy of the optic nerve from the optic disc to the chiasm was evaluated on MRI.
RESULTS
Nine patients were included. All presented unilateral MGDA. Age at first MRI was 0.6-62 years, median = 3.8 years. MRI showed posterior protrusion of the globe (staphyloma) centered by the optic disc in all cases (100%). Ipsilateral optic nerve abnormalities were found in all cases (100%). The optic nerve was found thinner than the contralateral one in its intraorbital, intracanalar, and intracranial portions in 1 case (11%); in 8 cases (89%), the thickness of the optic nerve was irregular and varied along its pathway: thick, normal, and/or thin. When gadolinium injection had been performed (3 cases), none exhibited gadolinium enhancement. When serial MRI scanning was available (4 cases), there was no evolution of the abnormalities.
CONCLUSION
In patients with MGDA, optic nerve and chiasm abnormalities are the rule, with most often a unique pattern of irregular optic nerve thickness-hypertrophy and hypoplasia-from the orbit to the chiasm. Such pattern should be recognized and points to a developmental abnormality, rather than an optic nerve glioma.
Topics: Contrast Media; Gadolinium; Humans; Magnetic Resonance Imaging; Optic Nerve; Retrospective Studies
PubMed: 34812761
DOI: 10.1097/WNO.0000000000001412 -
Indian Journal of Ophthalmology Jan 2018
Topics: Eye Abnormalities; Humans; Infant; Magnetic Resonance Imaging; Male; Optic Nerve; Optic Nerve Diseases
PubMed: 29283137
DOI: 10.4103/ijo.IJO_614_17 -
Handbook of Clinical Neurology 2011As experts on the central nervous system, neurologists are expected to be familiar with the many conditions that can result in visual loss arising from lesions of the... (Review)
Review
As experts on the central nervous system, neurologists are expected to be familiar with the many conditions that can result in visual loss arising from lesions of the optic nerve. The optic nerves are unique central nervous system structures in terms of surrounding anatomy, size, location, and blood supply; therefore, they are uniquely vulnerable to every pathological process that can affect the central and peripheral nervous systems, including inflammation, ischemia, compression, infiltration, toxic or hereditary metabolic dysfunction, trauma, and mechanical damage. This chapter highlights the importance of being able to identify the historical and clinical features that will enable neurologists to narrow down the broad differential diagnosis of optic nerve lesions. Distinguishing an optic neuropathy on the basis of history and clinical examination alone, however, can be difficult, especially when bilateral optic neuropathies are present. Specific ancillary tests, especially new imaging modalities, help further localization and differential diagnosis.
Topics: Diagnosis, Differential; Humans; Magnetic Resonance Imaging; Optic Nerve; Optic Nerve Diseases; Tomography, Optical Coherence
PubMed: 21601066
DOI: 10.1016/B978-0-444-52903-9.00012-1 -
Vestnik Oftalmologii 2021Optic nerve atrophy (ONA) is one of the most common causes of blindness and low vision in the world. The disease occurs in 60-68% of cases. The causes of optic nerve... (Review)
Review
Optic nerve atrophy (ONA) is one of the most common causes of blindness and low vision in the world. The disease occurs in 60-68% of cases. The causes of optic nerve atrophy are diverse: inflammatory and vascular diseases of the optic nerve and retina, glaucoma, atherosclerosis of the main vessels of head and neck, diseases of central nervous system, intoxication of various etiologies, as well as congenital and hereditary diseases. The literature review presents data on the diagnosis and classification of optic nerve atrophy, as well as on drug and non-drug treatment in combination with physiotherapy.
Topics: Atrophy; Blindness; Glaucoma; Humans; Optic Atrophy; Optic Nerve; Vision, Low
PubMed: 34669346
DOI: 10.17116/oftalma2021137052340 -
European Journal of Radiology May 2010This article provides an overview of the imaging findings of diseases affecting the optic nerve with special emphasis on clinical-radiological correlation and on the... (Review)
Review
This article provides an overview of the imaging findings of diseases affecting the optic nerve with special emphasis on clinical-radiological correlation and on the latest technical developments in MR imaging and CT. The review deals with congenital malformations, tumors, toxic/nutritional and degenerative entities, inflammatory and infectious diseases, compressive neuropathy, vascular conditions and trauma involving the optic nerve from its ocular segment to the chiasm. The implications of imaging findings on patient management and outcome and the importance of performing high-resolution tailored examinations adapted to the clinical situation are discussed.
Topics: Humans; Magnetic Resonance Imaging; Optic Nerve; Optic Nerve Diseases; Tomography, X-Ray Computed
PubMed: 20413240
DOI: 10.1016/j.ejrad.2009.09.029 -
Otolaryngologic Clinics of North America Feb 1988Post-traumatic deterioration of vision requires thorough ophthalmologic evaluation, as well as computed tomographic scanning of the orbits and central visual pathways if... (Review)
Review
Post-traumatic deterioration of vision requires thorough ophthalmologic evaluation, as well as computed tomographic scanning of the orbits and central visual pathways if no obvious ocular origins of the visual decrement are detected. When optic nerve trauma is a suspected etiology, the patient should be treated with megadose intravenous steroids, as well as optic nerve decompression performed after 12 to 24 hours if improvement of vision fails to occur.
Topics: Craniocerebral Trauma; Humans; Optic Nerve; Optic Nerve Injuries; Pressure; Wounds, Nonpenetrating
PubMed: 3277113
DOI: No ID Found -
Current Opinion in Ophthalmology Dec 1998Congenital optic nerve anomalies are not as rare as was once thought. Visual prognosis depends on the type of anomaly present. Both central nervous system and systemic... (Review)
Review
Congenital optic nerve anomalies are not as rare as was once thought. Visual prognosis depends on the type of anomaly present. Both central nervous system and systemic abnormalities have been associated with congenital optic nerve anomalies. Therefore, correct diagnosis has important visual and systemic implications. Congenital optic nerve anomalies are distinguished by the optic disc and peripapillary retinal appearance. In general, these anomalies can be grouped by abnormalities of optic disc size or conformation and by the presence of tissue not usually present at the disc.
Topics: Diagnosis, Differential; Eye Diseases, Hereditary; Humans; Magnetic Resonance Imaging; Optic Nerve; Optic Nerve Diseases; Visual Acuity
PubMed: 10387331
DOI: 10.1097/00055735-199812000-00004