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Biomedical subjects

Judith E A Warner

Publications and source records attributed to Judith E A Warner.

12 recordsLinked to original sources
PubMed2006

A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2.

Autosomal dominant optic atrophy (ADOA) is the most common inherited optic atrophy. Clinical features of ADOA include a slowly progressive bilateral loss of visual acuity, constriction of peripheral visual fields, central scotomas, and color vision abnormalities. Although ADOA is the most commonly inherited optic atrophy, autosomal recessive, X-linked, mitochondrial, and sporadic forms have also been reported. Four families with X-linked optic atrophy (XLOA) were previously described. One family was subsequently linked to Xp11.4-Xp11.2 (OPA2). This investigation studied one multi-generation family with an apparently X-linked form of optic atrophy and compared their clinical characteristics with those of the previously described families, and determined whether this family was linked to the same genetic locus. Fifteen individuals in a three-generation Idaho family underwent complete eye examination, color vision testing, automated perimetry, and fundus photography. Polymorphic markers were used to genotype each individual and to determine linkage. Visual acuities ranged from 20/30 to 20/100. All affected subjects had significant optic nerve pallor. Obligate female carriers were clinically unaffected. Preliminary linkage analysis (LOD score = 1.8) revealed that the disease gene localized to the OPA2 locus on Xp11.4-Xp11.2. Four forms of inherited optic neuropathy, ADOA, autosomal recessive optic atrophy (Costeff Syndrome), Leber hereditary optic neuropathy, and Charcot-Marie-Tooth disease with optic atrophy, are associated with mitochondrial dysfunction. Future identification of the XLOA gene will reveal whether this form of optic atrophy is also associated with a mitochondrial defect. Identification of the XLOA gene will advance our understanding of the inherited optic neuropathies and perhaps suggest treatments for these diseases. An improved understanding of inherited optic neuropathies may in turn advance our understanding of acquired optic nerve diseases, such as glaucoma and ischemic optic neuropathy.

Chromosomes, Human, X↗
PubMed2006

The evaluation of light sensitivity in benign essential blepharospasm.

PURPOSE: To test light sensitivity thresholds rigorously in patients with benign essential blepharospasm (BEB) compared with patients who have known light sensitivity (migraineurs) and to normal control subjects. DESIGN: Prospective, observational, case control study. METHODS: We recruited a total of 87 subjects into each of three groups: BEB, migraine, and normal control subjects. A modified slit-lamp chin rest, heat shield, light meter, and halogen light that was modulated by a rheostat were used to measure light sensitivity thresholds. Participants were tested without spectacles, with gray-tinted spectacles, and with FL-41-tinted spectacles. RESULTS: Light discomfort thresholds for subjects with BEB were significantly lower compared with normal control subjects (P < or = .009) and similar to the migraine group. Both gray and FL-41-tinted lenses improved light sensitivity thresholds in all groups (P < or = .0005). There was no observed difference in the improvement in light sensitivity when the gray and FL-41-tinted lenses were compared. CONCLUSION: Patients with BEB are considerably more sensitive to light than control subjects and as sensitive to light as patients with migraine. Physicians who care for patients with BEB should consider using tinted lenses to help ameliorate symptoms.

Blepharospasm↗
PubMed2006

Intermittent reversal of complete ptosis associated with sphenoid wing meningiomas.

CASE REPORT: Ptosis secondary to dense oculomotor pareses generally improves over several months, but intermittent elevation of the eyelid has not been reported. The authors describe two patients who demonstrated intermittent involuntary monocular eyelid elevation in an eye with complete ptosis caused by partial resection of sphenoid wing meningioma. Both patients had complete ophthalmoplegia and decreased corneal sensation. The involved eye was ipsilateral to a meningioma that had been debulked 11 to 12 months previously. Although the lids were devoid of volitional movement, each patient could elevate the lid for 10 to 20 seconds by either tickling the eyelashes or rubbing the eyelids. The lids occasionally rose spontaneously and there was no clinical evidence of aberrant regeneration or cyclic spasm. COMMENTS: Although the mechanism of action of this involuntary eyelid elevation is unknown, it is possible that some process of aberrant regeneration activated by sensory stimuli is responsible.

Adult↗
PubMed2006

Immunohistochemical evidence of inducible nitric oxide synthase and nitrotyrosine in a case of clinically isolated optic neuritis.

BACKGROUND: Optic neuritis (ON) is a demyelinating inflammation of the optic nerve that may occur as an isolated disease or related to multiple sclerosis (MS). There is little evidence of whether the immunohistochemistry of ON resembles that of typical cerebral MS lesions. METHODS: Pathologic optic nerves were obtained from a patient who died of causes unrelated to ON after clinical recovery from clinically isolated ON. Normal control optic nerves were obtained from an eye bank. Normal and pathologic tissues were probed with antibodies to pathologic proteins including myelin basic protein (MBP) fragment, the inducible form of nitric oxide synthase (iNOS), macrophage markers CD14 and CD64, nitrotyrosine, and cyclooxygenase (COX-2). We also examined MBP, the oligodendrocyte marker cyclic nucleotide phosphodiesterase (CNPase), and glial fibrillary acidic protein. RESULTS: In the affected pathologic nerve, iNOS-positive macrophages/microglia, iNOS-positive astrocytes, COX-2, and nitrotyrosine were observed. iNOS and COX-2 were occasionally observed in the unaffected nerve. Decreased expression of MBP and CNPase was seen in the pathologic optic nerves, along with evidence of gliosis and ongoing myelin degradation indicated by the presence of MBP fragment. CONCLUSIONS: The immunohistochemistry of clinically isolated optic neuritis, as judged by this single case, resembles that of cerebral lesions of MS in showing abnormally high levels of iNOS and nitrotyrosine as well as other mediators of immune damage.

Astrocytes↗
PubMed2006

Small cell lung carcinoma presenting as collapsin response-mediating protein (CRMP) -5 paraneoplastic optic neuropathy.

A 77-year-old woman presenting with progressive visual loss in both eyes was found to have small cell lung cancer. Assay for collapsin response-mediating protein (CRMP) -5 was positive suggesting a paraneoplastic optic neuropathy (PON). During treatment of the small cell lung cancer, the patient died of pneumonia and autopsy disclosed neuropathologic abnormalities consistent with PON. This is only the second case of CRMP-5-confirmed PON to report neuropathologic findings.

Aged↗
PubMed2004

Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.

PURPOSE: To describe the clinical features of and identify the disease-causing mutation in a large Utah family segregating a dominantly inherited syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia. DESIGN: Observational case series. METHODS: Thirty individuals at risk for a syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia in a single family underwent clinical examinations and venipuncture. Linkage analysis and mutation screening of the optic atrophy 1 gene (OPA1) were performed. RESULTS: Eighteen individuals demonstrated characteristics of the syndrome. Genetic analysis identified a G-->A substitution at nucleotide position 1334 in exon 14 of OPA1 causing an arginine-to-histidine change (R445H) in all affected members of the family. This change segregated with the disease phenotype in the study family with a LOD score of 7.02 at theta; = 0 and was not found in 200 normal control subjects. Analysis of an unrelated Belgian family with a similar phenotype revealed the same R445H mutation segregating with the disease phenotype. CONCLUSIONS: This study describes a mutation in OPA1 causing a unique syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia. These results expand the spectrum of human disease associated with mutations of OPA1 and indicate that ophthalmologists caring for patients with optic atrophy should inquire about possible associated hearing loss. Although OPA1 is a nuclear gene, the gene product localizes to mitochondria, suggesting that mitochondrial dysfunction may be the final common pathway for many forms of syndromic and nonsyndromic optic atrophy, hearing loss, and external ophthalmoplegia.

Adolescent↗
PubMed2004

Vasculopathies affecting the eye.

The retinal arteries and veins may be involved in isolation or as the result of a systemic vasculitis. This article emphasizes neurologic diseases in which the ocular vasculature is affected.

Eye↗
PubMed2002

Vitamin A in the cerebrospinal fluid of patients with and without idiopathic intracranial hypertension.

We quantified vitamin A in the cerebrospinal fluid of patients with idiopathic intracranial hypertension, elevated intracranial pressure of other causes and normal intracranial pressure. Vitamin A could be detected by high-pressure liquid chromatography in most of the specimens. There was a significantly higher level of vitamin A in the cerebrospinal fluid of some patients with idiopathic intracranial hypertension. Vitamin A toxicity may play a role in the pathogenesis of idiopathic intracranial hypertension.

Adult↗
PubMedDate not supplied

You are what you eat.

Wernicke encephalopathy consists of a triad of ophthalmoplegia, ataxia, and altered mental status. It is caused by thiamine deficiency and although it is commonly seen in alcoholics, patients undergoing gastric bypass surgery for morbid obesity could be a new group of patients to watch for. Florid papilloedema and optic neuropathy are not commonly seen but are still consistent with the diagnosis of Wernicke encephalopathy. The most striking feature remains the dramatic recovery after replacement of thiamine.

Adult↗
PubMedDate not supplied

Panhypopituitarism as an initial manifestation of primary central nervous system non-Hodgkin's lymphoma.

OBJECTIVE: To report an unusual case of primary central nervous system non-Hodgkin's lymphoma in which the initial manifestation was panhypopituitarism. METHODS: We present a retrospective case review and discuss similar cases from the literature. RESULTS: A 64-year-old woman with nausea, vomiting, diarrhea, and peripheral and periorbital edema was found to have panhypopituitarism. Magnetic resonance imaging showed minimal enlargement of the pituitary, and a transsphenoidal biopsy of the pituitary was nondiagnostic. Months later, abnormalities of extraocular movements developed. Repeated imaging and a second transsphe-noidal biopsy did not reveal the ultimate diagnosis. When further neurologic signs and symptoms subsequently developed, a right temporal open craniotomy was performed. It was not until this procedure, the patient's third biopsy, that the cause of her illness was discovered to be diffuse large cell lymphoma. CONCLUSION: Although idiopathic panhypopituitarism is a relatively common clinical entity, it remains a diagnosis of exclusion. The development of associated neurologic signs should prompt the clinician to initiate a new search for an underlying cause. This case underscores the protean manifestations of central nervous system lymphoma, both endocrine and neurologic, and the difficulties that may be encountered in attempts to establish a diagnosis.

Abducens Nerve Diseases↗