Neuro-ophthalmic Abnormalities Research Articles

Microphthalmia, aphakia and agenesis of the optic chiasm and tract in a wild fox squirrel (Sciurusniger)

We describe gross and histopathological features of multiple ocular and neuro-ophthalmic abnormalities in a fox squirrel (Sciurus niger). Ophthalmic findings included severe bilateral microphthalmos, with the right eye more affected than the left. Histopathology confirmed severe microphthalmia, aphakia, disorganized retinal tissue and small optic nerves, as well as agenesis of the optic chiasm and optic tract. This combination of neuro-ophthalmic abnormalities has not been previously described in wild animals.

Neuro-ophthalmic abnormalities among patients with stroke in a tertiary institution in Nigeria

Neuro-ophthalmic abnormalities among patients with stroke in a tertiary institution in Nigeria

Ocular findings in cats with blastomycosis: 19 cases (1978-2019).

To document ocular findings in cats with blastomycosis. 35 cats with blastomycosis. Medical records from 1978 through 2019 were reviewed to identify cats with confirmed Blastomyces infection. Cats were grouped as having or not having ocular involvement. Clinical signs, histopathologic findings, and response to treatment were evaluated. 21 of the 35 (60%) cats with confirmed blastomycosis had ocular abnormalities. Two of 21 cats with ocular abnormalities also had systemic hypertension and were excluded. Of the remaining 19 cats, 15 (79%) had bilateral ocular signs. Ten (53%) cats had inflammatory ocular lesions, and 9 (47%) had neuro-ophthalmic abnormalities. Six of the 19 (32%) cats appeared to be completely blind, and 5 (26%) appeared to be unilaterally blind. For the 10 cats with inflammatory ocular lesions, the most common lesions were anterior uveitis (9/20 eyes), active chorioretinitis (6/20 eyes), and retinal detachment (4/20 eyes). For the 9 cats with neuro-ophthalmic abnormalities, the most common abnormalities were a negative menace or tracking response (10/18 eyes) and negative pupillary light response (4/18 eyes). Results suggested that ocular involvement is common in cats with blastomycosis and that both inflammatory lesions and neuro-ophthalmic abnormalities can be seen. Blastomycosis should be considered in the differential diagnosis for cats with anterior uveitis, posterior segment inflammation, or neuro-ophthalmic abnormalities, and a complete ophthalmic examination should be performed in all cats with confirmed or suspected blastomycosis.

The Role of Neuro-Ophthalmologists in the Care of Patients With Neurofibromatosis Type 2.

Neurofibromatosis type 2 (NF2) is a rare genetic disorder, affecting the central nervous system and leading to various degrees of disability. Its hallmark is bilateral vestibular schwannomas that invariably lead to progressive hearing loss. Specific ophthalmic abnormalities in patients with NF2 may help to establish an early diagnosis. These include juvenile cataract, epiretinal membrane, combined hamartoma of the retina and the retinal pigment epithelium, optic disc glioma, and optic nerve sheath meningioma. In addition, intracranial tumors may produce a variety of neuro-ophthalmic abnormalities that have the potential to impair visual function, such as postpapilledema optic atrophy, compression of the visual pathways, keratopathy, ocular motor cranial nerve palsies, and amblyopia. Care of NF2 patients is best provided by interdisciplinary medical teams including a neuro-ophthalmologist.

Clinical neuro-ophthalmic findings in familial dysautonomia.

To define the clinical neuro-ophthalmic abnormalities of patients with familial dysautonomia (FD). Sixteen patients (32 eyes) with the clinical and molecular diagnoses of FD underwent thorough neuro-ophthalmic clinical evaluation. Visual acuity ranged from 0.05 to 1.0 decimal units and was reduced in 15 of 16 patients. Mild to moderate corneal opacities were found in most patients but were visually significant in only 2 eyes. Red-green color vision was impaired in almost all cases. Depression of the central visual fields was present on automated visual fields in all patients, even in those with normal visual acuity. Temporal optic nerve pallor was present in all cases and was associated with retinal nerve fiber layer loss in the papillomacular region. Various ocular motility abnormalities also were observed. Patients with FD have a specific type of optic neuropathy with predominant loss of papillomacular nerve fibers, a pattern similar to other hereditary optic neuropathies caused by mutations either in nuclear or in mitochondrial DNA, affecting mitochondrial protein function. Defects of eye movements, particularly saccades, also appear to be a feature of patients with FD.

Cross-sectional evaluation of clinical neuro-ophthalmic abnormalities in an amyotrophic lateral sclerosis population

ObjectiveOcular motility abnormalities may be a marker of neuro-degeneration beyond motor neurons in amyotrophic lateral sclerosis (ALS). We formally compared clinical neuro-ophthalmic abnormalities in ALS patients and a control population. MethodsPatients attending a multidisciplinary ALS clinic (n=63, age 60.8+/−16.4years) and their caregivers serving as controls (n=37, ages 55.0+/−12.7years) participated in this cross-sectional study. Visual acuity was assessed. Video recordings of a standardized ocular motility exam including gaze fixation, voluntary saccades, reflex saccades, smooth pursuit, eyelid opening and Bell's phenomenon were rated by two senior neuro-ophthalmologists who were masked to subject group. ResultsVisual acuity was lower in ALS patients versus control subjects (OR 0.81 (0.71–0.93), p=0.003, logistic regression). Inter- and intra-rater reliability for ocular motility examination ratings were good (Cohen's Kappa>0.6). Findings observed only in ALS subjects included gaze impersistence (14%, p=0.01), moderately or severely restricted voluntary upgaze (13%, p=0.01), and moderate or severe eyelid opening apraxia (27%, p=0.0002). Accounting for age, moderately or severely saccadic horizontal smooth pursuits distinguished ALS from control subjects (OR 3.6 (1.2–10.9), p=0.02, logistic regression). ConclusionsClinical findings of decreased visual acuity, gaze impersistence, voluntary upgaze restriction, eyelid opening apraxia, and saccadic horizontal smooth pursuits are more frequent in patients with ALS than in similar-aged controls. These findings are potential clinical markers of neurodegeneration beyond upper and lower motor neuron disease in ALS. Further study is warranted regarding their application to disease categorization and outcomes assessment.

Neuro-Ophthalmic Findings in Wernicke's Encephalopathy after Gastric Bypass Surgery

Three patients with acquired neuro-ophthalmic abnormalities due to Wernicke's encephalopathy following gastric bypass surgery are reported. The neuro-ophthalmic findings included bilateral third nerve palsies, horizontal and vertical nystagmus, and lid nystagmus. Two of our patients were not eating and two were actually vomiting when the eye movement abnormalities appeared. Thirteen similar cases have been reported. The frequency of this complication heralds a call for closer attention to the nutritional state of patients undergoing bariatric surgery. Clinicians should be aware of the possibility of Wernicke's encephalopathy after gastric bypass surgery.

Neuro-ophthalmology of mitochondrial diseases

Purpose of review To review recent data on mitochondrial diseases with emphasis on their neuro-ophthalmic manifestations. Recent findings Numerous studies have associated mitochondrial diseases with neuro-ophthalmic manifestations. Although there has been an explosion of studies on the genetics of mitochondrial diseases over the past few years, pathogenesis is only partly understood and therapy remains very limited. Over the past year, new mutations in Leber's hereditary optic neuropathy have been reported, and at least three genes associated with autosomal dominant chronic progressive external ophthalmoplegia have been described. These findings allow a better definition of the specific genetic mutations and gene products as well as pathophysiology of Leber's hereditary optic neuropathy and chronic progressive external ophthalmoplegia. The current development of animal models allows a better understanding of the pathophysiology of human mitochondrial diseases. Summary The afferent and efferent visual pathways within the central nervous system are frequently involved in mitochondrial diseases. Neuro-ophthalmic signs figure prominently and may be the presenting or even sole manifestation of these disorders. The four most common neuro-ophthalmic abnormalities seen in mitochondrial disorders are bilateral optic neuropathy, ophthalmoplegia with ptosis, pigmentary retinopathy, and retrochiasmal visual loss.

Neuro-ophthalmology of mitochondrial diseases.

To review recent data on mitochondrial diseases with emphasis on their neuro-ophthalmic manifestations. Numerous studies have associated mitochondrial diseases with neuro-ophthalmic manifestations. Although there has been an explosion of studies on the genetics of mitochondrial diseases over the past few years, pathogenesis is only partly understood and therapy remains very limited. Over the past year, new mutations in Leber's hereditary optic neuropathy have been reported, and at least three genes associated with autosomal dominant chronic progressive external ophthalmoplegia have been described. These findings allow a better definition of the specific genetic mutations and gene products as well as pathophysiology of Leber's hereditary optic neuropathy and chronic progressive external ophthalmoplegia. The current development of animal models allows a better understanding of the pathophysiology of human mitochondrial diseases. The afferent and efferent visual pathways within the central nervous system are frequently involved in mitochondrial diseases. Neuro-ophthalmic signs figure prominently and may be the presenting or even sole manifestation of these disorders. The four most common neuro-ophthalmic abnormalities seen in mitochondrial disorders are bilateral optic neuropathy, ophthalmoplegia with ptosis, pigmentary retinopathy, and retrochiasmal visual loss.

Neuro-ophthalmology of mitochondrial diseases.

The afferent and efferent visual pathways within the central nervous system are frequently involved in mitochondrial diseases. Neuro-ophthalmic signs figure prominently and may be the presenting or even sole manifestation of these disorders. The four most common neuro-ophthalmic abnormalities seen in mitochondrial disorders are bilateral optic neuropathy, ophthalmoplegia with ptosis, pigmentary retinopathy, and retrochiasmal visual loss.

Neuro-ophthalmic abnormalities in Tourette's syndrome. Functional and anatomic implications

Neuro-ophthalmic abnormalities in Tourette's syndrome. Functional and anatomic implications

Neuro-ophthalmic abnormalities in Tourette's syndrome: functional and anatomic implications.

Neuro-ophthalmic findings in 29 patients with Gilles de la Tourette's syndrome are described. Twenty-eight patients had blepharospasm, and 19 had other eye tics that included forced staring and involuntary gaze deviation. These neuro-ophthalmic abnormalities and ocular disturbances are similar to those found in known basal ganglia disorders.

Cerebral disorders of vision in systemic lupus erythematosus.

Sensory neuroophthalmic abnormalities due to cerebral lupus erythematosus, with involvement of visual pathways posterior to the optic chiasm, occurred in 12 patients with systemic lupus erhthematosus. Five underwent detailed evaluation because of an hallucination, 4 for visual loss, and 3 for both. Hallucinations were either unformed (for example, bright lights, straight lines) or highly formed (for example, faces), in which case they were invariably recognized by the patient as inappropriate. In no instance did they occur in association with delirium, confusion, or use of hallucinogenic drugs. Patients with loss of vision had scotomas, homonymous field defects, and cortical blindness. These features indicate disease in the posterior cerebral artery circulation, a localization often supported by ancillary neurologic findings, for example, vocal cord paralysis, diminished gag reflex. Thus, various visual dysfunctions may occur in systemic lupus erythematosus due to cerebral vasculitis. At times they may be the most prominent and disabling feature of the disorder.