摘要:

We recently encountered a 27-year-old man who presented an atypical clinical picture of Leber's hereditary optic neuropathy: His family history was negative, visual loss continued steadily for over 8 months, circumpapillary microangiopathy was equivocal, the optic discs showed large physiologic cups, and both optic nerve sheaths were notably distended with increased subarachnoid fluid. The latter was confirmed by ultrasonography, computed tomography, and magnetic resonance imaging. The patient's asymptomatic brother also showed unimpressive circumpapillary microangiopathy in the fundi. The asymptomatic mother from France was then seen, and she showed classic circumpapillary microangiopathy in the fundi. Studies of mitochondrial DNA showed the classic point mutation at position 11778 as reported by Wallace in all three family members. Another patient previously seen with classic Leber's hereditary optic neuropathy recently had mitochondrial DNA studies along with three other affected family members and five unaffected family members in the maternal lineage. All nine of these individuals were completely normal at the Wallace locus. In fact, sequencing of the entire ND-4 gene from one affected individual revealed it to be perfectly normal at the amino acid level. The importance of obtaining quantitative ultrasonography and the 30° test, and studying mitochondrial DNA in patients suspected of having Leber's optic nerve disease is emphasized.

ISSN:0272-846X    

出版商:OVID    

年代:1990

数据来源: OVID

摘要:

A 13-year-old boy presented with blindness and loss of the papillomacular bundle in the left eye, bilateral papilledema sparing the area of axonal loss, and Parinaud's syndrome. Computerized tomography (CT) revealed an enlarged kinked left optic nerve and enlarged optic canal as well as a tumor in the pineal area producing hydrocephalus. Magnetic resonance (MR) scans showed multiple spinal metastases. The histological diagnosis was germinoma. On completion of four courses of chemotherapy withcis-platin, vinblastine, and bleomycin, repeated CT of orbita and MR imaging of the spine demonstrated the disappearance of the tumor surrounding the left optic nerve and of the spinal metastases. This is believed to be the first case report of seeding of germinoma into the perioptic arachnoid space.

ISSN:0272-846X    

出版商:OVID    

年代:1990

数据来源: OVID

摘要:

A 37-year-old man experienced the acute onset of blurred vision, particularly in the inferior hemifield of his left eye. Neuro-ophthalmic examination showed a left afferent pupillary defect, a left inferior altitudinal visual field deficit, bilateral nerve fiber layer infarcts and hemorrhages, and left optic disc elevation with edema of the nerve fiber bundle. Complete examination and laboratory studies revealed only a severe folate deficiency anemia. This is the first well-documented report of anterior ischemic optic neuropathy associated with anemia in the absence of other systemic abnormalities.

ISSN:0272-846X    

出版商:OVID    

年代:1990

数据来源: OVID

摘要:

Serologic screening of patients for Lyme borreliosis began at the Bascom Palmer Eye Institute (BPEI) in Sepetmber 1987. This report reviews the data on 641 sera from that date up to January 1, 1990. Initially only immunofluorescent (IFA) IgG and IgM titers were obtained. Because of increasing numbers of borderline and positive IFA tests, a Lyme enzyme linked immunosorbent assay (ELISA) was added in April 1988. Also, because of significant serologic cross reactivity in patients exposed toTreponema pallidum, rapid plasma reagin (RPR) and fluorescent treponemal antibody absorption (FTA-ABS) tests were added to the serologic screening panel. Of all sera tested, 10% showed reactive RPR tests and 22% showed reactive FTA-ABS tests. Lyme IFA IgG titers were ≥1:64 in 17% of the sera, and Lyme ELISA tests were >1.25 in 15% of the sera. Our experience agrees with reports that serum RPR or VDRL tests are nonreactive in Lyme borreliosis, and that false positive FTA-ABS tests can occur in Lyme borreliosis. The importance of getting all four tests—RPR, FTA-ABS, Lyme IFA IgG and IgM, and Lyme ELISA—in all patients suspected of spirochetal disease is emphasized.

ISSN:0272-846X    

出版商:OVID    

年代:1990

数据来源: OVID

摘要:

Cogan's syndrome is a rare systemic autoimmune disease with preeminent ophthalmological and vestibulocochlear manifestations. Untreated, the disease usually results in profound deafness; eye involvement is usually self-remitting. Ten to twenty percent of patients either develop serious aortic valve disease or vasculitis or both. When given early, immunosuppressive therapy has been shown to be effective in treating all aspects of the disease. Thus, early disease recognition is of great significance. We present a patient with Cogan's syndrome and briefly discuss therapeutic implications.

ISSN:0272-846X    

出版商:OVID    

年代:1990

数据来源: OVID

摘要:

A 15-year-old girl complained of color vision difficulties and was found to have an acquired color vision defect with no other abnormalities in the eyes. After 9 years, in addition to the color vision defect, there was gradual loss of visual acuity in both eyes, small central scotomas in the visual fields, elevation of the cone and rod thresholds in the dark adaptation, and decreased response in the photopic and scotopic electroretinogram. The diagnosis of a progressive cone-rod dystrophy was made. It is unusual for cone-rod dystrophy to begin with a distinct color vision defect only; the case report is presented.

ISSN:0272-846X    

出版商:OVID    

年代:1990

数据来源: OVID

摘要:

Upside-down reversal of vision is a very rare kind of visual illusion characterized by the upside-down appearance of all objects within the visual field. Only seven cases have been reported since its description. In this paper, we report a case of upside-down reversal of vision, which occurred following a third ventriculostomy operation for hydrocephalus. This is the first case reported in the literature after a surgical intervention.

ISSN:0272-846X    

出版商:OVID    

年代:1990

数据来源: OVID

摘要:

We describe an unusual patient with periodic alternating oscillopsia caused by periodic alternating nystagmus. A dramatic cessation of her symptomatology and disappearance of periodic alternating nystagmus was achieved with baclofen and has been maintained for a period of over nine months. The importance of proper diagnosis and therapy of patients with oscillopsia is described.

ISSN:0272-846X    

出版商:OVID    

年代:1990

数据来源: OVID

摘要:

Bilateral internuclear ophthalmoplegia (INO) is most often demyelinative in origin. Rarely, structural lesions may present with this finding, but in these cases the age at onset and the associated signs of increased intracranial pressure and widespread brainstem dysfunction usually make the distinction. This report describes the 13th published case of tumor-induced INO, produced by an atypical adult medulloblastoma. Potential pathophysiologic mechanisms are discussed.

ISSN:0272-846X    

出版商:OVID    

年代:1990

数据来源: OVID

摘要:

We report a patient with a pathologically proven pontine cavernous angioma and a horizontal one and a half syndrome. Following recurrent hemorrhages, the vascular malformation was removed from the dorsal pons using microsurgical techniques with partial resolution of the motility disturbance. This case demonstrates that vascular malformations of the brainstem parenchyma may be removed, thereby precluding further hemorrhage and facilitating the return of neurologic function.

ISSN:0272-846X    

出版商:OVID    

年代:1990

数据来源: OVID