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Biomedical subjects

J D Trobe

Publications and source records attributed to J D Trobe.

At least 19 recordsLinked to original sources

Neuro-ophthalmic features of cerebral venous obstruction.

OBJECTIVE: To characterize the neuro-ophthalmologic manifestations of impaired cranial venous outflow. DESIGN: A retrospective study of 20 patients who developed increased intracranial pressure as the result of impaired cerebral drainage. SETTING: Three neuro-ophthalmologic referral centers. PATIENTS: Ten patients had noncompressive thrombosis of sagittal or lateral sinuses (noncompressive group), four had compression of the sagittal sinus or jugular veins (compressive group), and six had transient sinus thrombosis following surgical procedures (iatrogenic group). INTERVENTIONS: Medical and/or surgical treatment of increased intracranial pressure and of underlying conditions predisposing to venous obstruction. MAIN OUTCOME MEASURES: Symptoms (headache and esodeviation) and signs (visual acuity, visual fields, and optic disc appearance) of increased intracranial pressure. RESULTS: Headache was more severe, esodeviation was more prevalent, and onset was more abrupt in the noncompressive group than in the compressive and iatrogenic groups. Among the 10 patients with noncompressive thrombosis, factors predisposing to thrombosis were present in seven patients but sometimes overlooked. Following treatment, visual outcome was generally favorable in all three groups. All patients had 20/30 or better visual acuity in at least one eye, and substantial visual field loss was present in both eyes of only two patients. CONCLUSIONS: The clinical manifestation of impaired cerebral venous outflow vary depending on the underlying mechanism. Although most patients maintain good vision, more aggressive treatment is sometimes indicated in patients with thrombosis or compression. The abrupt onset and marked severity of symptoms in patients with thrombosis should help to differentiate these patients from those with idiopathic intracranial hypertension.

Adult

The effectiveness initiative. I. Medical practice guidelines.

We examined the impact of the "effectiveness initiative" and medical practice guidelines on the practice of ophthalmology. The effectiveness initiative asserts that much of current medical practice is unnecessary or harmful, too costly, and unresponsive to patient desires. It promotes more critical review of the medical literature, research on outcomes, and stringent practice guidelines. Whereas current practice guidelines are helpful in codifying accepted procedures, they tend to sanction interventions of unproved value. Future guidelines will probably reject unproved interventions, especially if they are expensive. Although such guidelines may limit physicians' freedom of choice, they may protect them against capricious malpractice claims and unreasonable patient expectations.

Health Planning

The effectiveness initiative. II: The spectrum of effectiveness research.

Effectiveness research aims to base medical decision making more on rigorous evidence than on intuition and anecdote. The methods used to generate new data include, in order of decreasing rigor, clinical trials, observational studies, claims data analysis, and anecdotal studies. The methods that synthesize existing data include unstructured literature reviews, consensus development, meta-analysis, and decision modeling. Cost minimization, cost-effectiveness, and cost-benefit analyses are formal methods of incorporating the economic impact of alternative medical interventions.

Clinical Trials as Topic

Painful oculomotor palsy caused by posterior-draining dural carotid cavernous fistulas.

BACKGROUND: Carotid cavernous fistulas cause conjunctival hyperemia and orbital soft-tissue swelling because of increased flow directed anteriorly in ophthalmic veins. Less well recognized is that when fistular flow is directed posteriorly, these congestive features will be absent and the diagnosis of the "white-eyed shunt" will be missed unless angiography is performed. METHODS: Two patients who had oculomotor nerve palsies caused by posteriorly draining dural carotid cavernous fistulas were studied, and the 28 previously described cases were reviewed. RESULTS: One patient had a chronic painful palsy of the sixth cranial nerve, and the other, a palsy of the third cranial nerve. Cerebral angiography disclosed the fistulas. The clinical and imaging features of these cases conform to those of the 28 previously reported white-eyed shunts. Angiographic features do not explain why some posterior-draining fistulas cause sixth-nerve palsies and others cause third- (or rarely, fourth-) nerve palsies. CONCLUSIONS: Dural carotid cavernous fistulas that drain primarily into the inferior petrosal sinus may cause painful oculomotor palsies that elude diagnosis because they lack congestive orbito-ocular features. Treatment by embolization leads to more rapid resolution of manifestations.

Aged

Varied clinical spectrum of necrobiotic xanthogranuloma.

Four cases are presented that illustrate a wide spectrum of ophthalmologic and systemic features of necrobiotic xanthogranuloma (NXG). Case 1 initially had signs of Cogan syndrome, and then developed chronic lymphocytic leukemia. Case 2, the first case of NXG to undergo autopsy, had progressive cicatricial lid retraction and corneal perforation. Case 3 had a more typical presentation of diplopia and blepharoptosis caused by orbital and periorbital infiltrative masses. Case 4 had nondeforming periocular skin lesions over a 6-year period. In all four cases, the diagnosis was made on the basis of characteristic histopathologic and laboratory findings. Although the cause of NXG is still obscure, in many cases it appears to be a forerunner of lymphoproliferative diseases.

Aged

Nystagmus of Pelizaeus-Merzbacher disease. A magnetic search-coil study.

Magnetic search-coil oculography of three brothers with clinically diagnosed Pelizaeus-Merzbacher disease disclosed the presence of binocular elliptical pendular nystagmus in two patients in whom the waveform of the nystagmus was not obvious on inspection. This study, the first reported application of high-resolution oculography to Pelizaeus-Merzbacher disease, also demonstrated primary position upbeat nystagmus in all three patients. The importance of finding this combination of elliptical pendular and upbeat nystagmus is that it is not described in any other childhood neurodegenerative states and, in combination with supportive clinical history and magnetic resonance imaging, may be so characteristic of Pelizaeus-Merzbacher disease that a strong presumptive diagnosis can be made.

Adult

Pupillary and electroretinographic abnormalities in a family with neuronal intranuclear hyaline inclusion disease.

Abnormal pupillary function and a severely depressed electroretinogram were found in four members of a family with neuronal intranuclear hyaline inclusion disease, an idiopathic degenerative disorder that involves the central and peripheral nervous systems. Symptoms were limited to the gastrointestinal system and consisted principally of abdominal pain, constipation, and severe weight loss. The discovery of light-fixed pupils in the propositus led to the first antemortem diagnosis by rectal biopsy in two generations of this family. Abnormalities of gastrointestinal motility and pupillary reactions constituted the only objective evidence of autonomic dysfunction; the abnormal electroretinogram was the only evidence of central nervous system dysfunction.

Adult

Visual loss in tuberous sclerosis.

Of 11 patients with tuberous sclerosis complex (TSC) treated from 1980 to 1990 for obstructive hydrocephalus secondary to subependymal giant-cell astrocytoma, four had adequate documentation to determine visual outcome. Despite surgical relief of elevated intracranial pressure in all cases, two patients sustained further visual loss. In one patient, visual loss was arrested, and in one patient, it was prevented. Although hydrocephalus is uncommon in TSC, its effects on the optic nerves are serious and eventually irreversible. Because TSC patients may not be able to express early symptoms of increased intracranial pressure, periodic ophthalmologic examination and brain imaging may be advisable when a subependymal lesion has been identified.

Adolescent

Idiopathic photoreceptor dysfunction causes unexplained visual acuity loss in later adulthood.

Progressive visual loss, caused by initially unrecognized retinal photoreceptor dysfunction predominantly affecting cones, developed in six patients in late adulthood. Because of minimal ophthalmoscopic retinal abnormalities, the patients initially had been suspected of having optic neuropathy or psychogenic visual loss. The correct diagnosis was ultimately established by finding electroretinographic abnormalities and color discrimination losses out of proportion to visual acuity loss. In no case was a causative agent or a family history of photoreceptor disease identified. In many other respects, however, features of the patients' illness resemble those described previously under the headings of cone dysfunction syndrome, cone dystrophy, cone degeneration, and cone-rod dystrophy.

Aged

MR imaging of the brain in five members of a family with Pelizaeus-Merzbacher disease.

MR imaging was performed in five members of a family afflicted with Pelizaeus-Merzbacher disease. The individuals imaged included a male proband, his mother, and three maternal uncles. Clinically affected members showed generalized white matter signal aberration consistent with dys- and demyelination, basal ganglia, and thalamic signal aberration suggestive of pathologic iron storage and diffuse brain atrophy. These findings are similar to those seen in other leukodystrophies. The proband's mother was normal by neurologic examination but showed a suspicious but not definitely abnormal similar pattern of basal ganglionic and white matter signal aberration. In our limited patient sample, MR appears to be able to: (1) demonstrate a pattern of imaging abnormalities characteristic of Pelizaeus-Merzbacher disease (we do not know if this pattern is specific); (2) potentially detect the obligate carrier state; and (3) detect the facultative carrier state.

Adult

Angle-closure glaucoma as initial presentation of myelodysplastic syndrome.

A 57-year-old man presented with proptosis of the right eye and findings consistent with bilateral angle-closure glaucoma. Subsequent evaluation revealed severe bilateral uveal effusions and associated nonrhegmatogenous retinal detachments, which were felt to be related to orbital pseudotumour and associated scleritis. Hematologic studies were consistent with a diagnosis of myelodysplastic syndrome. Although myelodysplastic syndrome has been reported in one patient with orbital inflammation and myositis, to our knowledge ciliochoroidal effusion and secondary angle closure have not previously been reported in myelodysplastic syndrome.

Exophthalmos

Visual outcome in cystic craniopharyngiomas treated with intracavitary phosphorus-32.

Seven patients with cystic craniopharyngiomas were treated with stereotactic instillation of radioactive phosphorus-32 (32P). Five patients had been previously treated with various combinations of surgery and external beam irradiation, whereas two had the 32P instillation at a primary therapy. Visual acuity improved in 13 eyes and remained stable in 1. Visual fields normalized in three patients, improved in two, and remained stable in two. Two patients received single treatments with 32P, whereas five required multiple instillations for recurrent cyst expansion.

Adolescent

Bilateral optic nerve compression as a mechanism for the Foster Kennedy syndrome.

An 11-year-old boy with a juvenile nasopharyngeal angiofibroma developed optic disc pallor in one eye and optic disc edema in the other eye (Foster Kennedy Syndrome [FKS]). The mechanism was believed to be bilateral, asymmetric optic nerve compression. Review of the 36 previously reported cases of FKS revealed that 12 cases (33%) were probably also caused by bilateral optic nerve compression. Only eight (22%) of the cases satisfied Foster Kennedy's original hypothesis for the pathogenesis of his syndrome, namely, direct compression of one optic nerve causing atrophy and increased intracranial pressure causing contralateral papilledema. In 15 (41%) reported cases of FKS, descriptions were inadequate to determine a mechanism, while two (5%) were probably caused by long-standing increased intracranial pressure without direct optic nerve compression. The authors believe that as sophisticated imaging permits earlier diagnosis and more precise localization, most future cases of FKS caused by mass lesions will be found to result from bilateral direct optic nerve compression.

Child

Optic tract injury after anterior temporal lobectomy.

Three patients had complete homonymous hemianopia with clinical and neuroimaging characteristics of ipsilateral optic tract infarction after anterior temporal lobectomy for seizure control. This injury presumably resulted from irritative vasospasm of the anterior choroidal artery. The features of this pure optic tract syndrome should be distinguished from the more common compressive optic tract syndrome which generally also impairs ipsilateral optic nerve function.

Adult