Evaluation of focal defects of the nerve fiber layer using optical coherence tomography. (1/852)

OBJECTIVE: To analyze glaucomatous eyes with known focal defects of the nerve fiber layer (NFL), relating optical coherence tomography (OCT) findings to clinical examination, NFL and stereoscopic optic nerve head (ONH) photography, and Humphrey 24-2 visual fields. DESIGN: Cross-sectional prevalence study. PARTICIPANTS: The authors followed 19 patients in the study group and 14 patients in the control group. INTERVENTION: Imaging with OCT was performed circumferentially around the ONH with a circle diameter of 3.4 mm using an internal fixation technique. One hundred OCT scan points taken within 2.5 seconds were analyzed. MAIN OUTCOME MEASURES: Measurements of NFL thickness using OCT were performed. RESULTS: In most eyes with focal NFL defects, OCTs showed significant thinning of the NFL in areas closely corresponding to focal defects visible on clinical examination, to red-free photographs, and to defects on the Humphrey visual fields. Optical coherence tomography enabled the detection of focal defects in the NFL with a sensitivity of 65% and a specificity of 81%. CONCLUSION: Analysis of NFL thickness in eyes with focal defects showed good structural and functional correlation with clinical parameters. Optical coherence tomography contributes to the identification of focal defects in the NFL that occur in early stages of glaucoma.  (+info)

Ophthalmic abnormalities in patients with cutaneous T-cell lymphoma. (2/852)

PURPOSE: To determine the frequency of ophthalmic abnormalities in patients with cutaneous T-cell lymphoma (mycosis fungoides and Sezary syndrome) and T-cell lymphoma involving the skin and to describe the clinical course of the disease with selected examples. METHODS: A computerized diagnostic retrieval system was used to identify all patients with T-cell lymphoma involving the skin who were examined at the Mayo Clinic (Rochester, Minnesota) between January 1, 1976 and December 31, 1990. The medical records of affected patients were reviewed. RESULTS: During the 15-year interval from 1976 through 1990, cutaneous T-cell lymphoma was diagnosed in 2,155 patients. Of these 2,155 patients, 42 (1.95%; 26 male and 16 female) had at least 1 ophthalmic abnormality attributable to the disease. The diagnoses in these 42 patients were mycosis fungoides in 19, clinical variants of T-cell lymphoma of the skin (most commonly, peripheral T-cell lymphoma) in 11, and Sezary syndrome in 12. Cicatricial eyelid ectropion was the most common finding, affecting 17 (40.4%) of the 42 patients. Thirty-seven patients had findings that, although probably not a direct consequence of cutaneous T-cell lymphoma, have been cataloged in previous studies. CONCLUSION: Although ophthalmic abnormalities in patients with cutaneous T-cell lymphoma are relatively uncommon, the manifestations of the disease are diverse and frequently difficult to treat.  (+info)

Acquired mitochondrial impairment as a cause of optic nerve disease. (3/852)

BACKGROUND: Blindness from an optic neuropathy recently occurred as an epidemic affecting 50,000 patients in Cuba (CEON) and had clinical features reminiscent of both tobacco-alcohol amblyopia (TAA) and Leber's hereditary optic neuropathy (Leber's; LHON). Selective damage to the papillomacular bundle was characteristic, and many patients also developed a peripheral neuropathy. Identified risk factors included vitamin deficiencies as well as exposure to methanol and cyanide. In all 3 syndromes, there is evidence that singular or combined insults to mitochondrial oxidative phosphorylation are associated with a clinically characteristic optic neuropathy. PURPOSE: First, to test the hypothesis that a common pathophysiologic mechanism involving impairment of mitochondria function and, consequently, axonal transport underlies both genetic optic nerve diseases such as Leber's and acquired toxic and nutritional deficiency optic neuropathies. According to this hypothesis, ATP depletion below a certain threshold leads to a blockage of orthograde axonal transport of mitochondria, which, in turn, leads to total ATP depletion and subsequent cell death. Second, to address several related questions, including (1) How does impaired energy production lead to optic neuropathy, particularly since it seems to relatively spare other metabolically active tissues, such as liver and heart? (2) Within the nervous system, why is the optic nerve, and most particularly the papillomacular bundle, so highly sensitive? Although there have been previous publications on the clinical features of the Cuban epidemic of blindness, the present hypothesis and the subsequent questions have not been previously addressed. METHODS: Patients in Cuba with epidemic optic neuropathy were personally evaluated through a comprehensive neuro-ophthalmologic examination. In addition, serum, lymphocytes for DNA analysis, cerebrospinal fluid (CSF), sural nerves, and eyes with attached optic nerves were obtained from Cuban patients, as well as from Leber's patients, for study. Finally, we developed an animal model to match the low serum folic acid and high serum formate levels found in the CEON patients, by administering to rats low doses of methanol after several months of a folic acid-deficient diet. Optic nerves and other tissues obtained from these rats were analyzed and compared with those from the Cuban patients. RESULTS: Patients from the Cuban epidemic of optic neuropathy with clinical evidence of a selective loss of the papillomacular bundle did much better once their nutritional status was corrected and exposure to toxins ceased. Patients with CEON often demonstrated low levels of folic acid and high levels of formate in their blood. Histopathologic studies demonstrated losses of the longest fibers (in the sural nerve) and those of smallest caliber (papillomacular bundle) in the optic nerve, with intra-axonal accumulations just anterior to the lamina cribrosa. Our animal model duplicated the serologic changes (low folic acid, high formate) as well as these histopathologic changes. Furthermore, ultrastructural examination of rat tissues demonstrated mitochondrial changes that further matched those seen on ultrastructural examination of tissues from patients with Leber's. CONCLUSION: Mitochondria can be impaired either genetically (as in Leber's) or through acquired insults (such as nutritional or toxic factors). Either may challenge energy production in all cells of the body. While this challenge may be met through certain compensatory mechanisms (such as in the size, shape, or number of the mitochondria), there exists in neurons a threshold which, once passed, leads to catastrophic changes. This threshold may be that point at which mitochondrial derangement leads to such ATP depletion that axonal transport is compromised, and decreased mitochondrial transport results in even further ATP depletion. Neurons are singularly dependent on the axonal transport of mitochondria. (  (+info)

Diabetes mellitus: a risk factor in patients with Graves' orbitopathy. (4/852)

AIMS: To assess the prevalence of dysthyroid optic neuropathy (DON) in patients with diabetes mellitus (DM) and Graves' orbitopathy (GO) and to investigate the complications of surgery for GO in these patients. METHODS: The records of 482 consecutive patients with GO referred in a 5 year period were studied. Those patients who also had DM were selected for further study. The prevalence of insulin dependent diabetes mellitus (IDDM) and non-insulin dependent diabetes mellitus (NIDDM) was registered, as well as the prevalence and course of DON. In the patients who underwent surgery for GO the postoperative complications were recorded. RESULTS: Out of 482 patients with GO, 15 (3.1%) also had DM. Eight (1.7%) had IDDM, 7 (1.4%) had NIDDM. Five patients (33.3%) three with IDDM and two with NIDDM developed DON with 50% improvement of visual acuity after treatment, whereas in the whole population of 482 GO patients 19 had DON (3.9%), showing 69.4% improvement of vision after treatment. 10 patients with GO and DM were operated for GO; in one of them an optic atrophy developed as a result of a postoperative haemorrhage directly after a three wall orbital decompression by coronal approach. No other postoperative complications occurred. CONCLUSIONS: The prevalence of IDDM in patients with GO is higher than in the normal population. DON occurs much more frequently in patients with GO and DM than in the total group of GO patients and seems to have a worse visual prognosis.  (+info)

Dysgenesis of the internal carotid artery associated with transsphenoidal encephalocele: a neural crest syndrome? (5/852)

We describe two original cases of internal carotid artery dysgenesis associated with a malformative spectrum, which includes transsphenoidal encephalocele, optic nerve coloboma, hypopituitarism, and hypertelorism. Cephalic neural crest cells migrate to various regions in the head and neck where they contribute to the development of structures as diverse as the anterior skull base, the walls of the craniofacial arteries, the forebrain, and the face. Data suggest that the link between these rare malformations is abnormal neural crest development.  (+info)

Visual function and brain organization in non-decussating retinal-fugal fibre syndrome. (6/852)

Functional neuroimaging, psychophysical and electrophysiological investigations were performed in a patient with non-decussating retinal-fugal fibre syndrome, an inborn achiasmatic state in which the retinal projections of each eye map entirely to the ipsilateral primary visual cortex. Functional magnetic resonance imaging (fMRI) studies showed that for monocularly presented simple visual stimuli, only the ipsilateral striate cortex was activated. Within each hemisphere's striate cortex, the representation of the two hemifields overlapped extensively. Despite this gross miswiring, visual functions that require precise geometrical information (such as vernier acuity) were normal, and there was no evidence for the confounding of visual information between the overlapping ipsi-lateral and contralateral representations. Contrast sensitivity and velocity judgments were abnormal, but their dependence on the orientation and velocity of the targets suggests that this deficit was due to ocular instabilities, rather than the miswiring per se. There were no asymmetries in performance observed in visual search, visual naming or illusory contour perception. fMRI analysis of the latter two tasks under monocular viewing conditions indicated extensive bilateral activation of striate and prestriate areas. Thus, the remarkably normal visual behavior achieved by this patient is a result of both the plasticity of visual pathways, and efficient transfer of information between the hemispheres.  (+info)

Surgical management of symptomatic intrasellar arachnoid cysts--two case reports. (7/852)

Two patients with symptomatic intrasellar arachnoid cyst were successfully treated. A 67-year-old female with a cyst 20 mm in diameter developed headache and visual disturbance. She was treated by transsphenoidal surgery. A 59-year-old male with a cyst measuring 35 x 30 x 50 mm causing headache, visual disturbance, and deterioration of consciousness was managed by wide resection of the cyst wall via craniotomy. Postoperative courses in both patients were uneventful. Transsphenoidal surgery may be suitable for small to medium-sized cysts, although tight packing of the sella is mandatory to prevent leakage of cerebrospinal fluid. However, craniotomy is recommended for large intra- and suprasellar arachnoid cysts to avoid this complication, and to achieve sufficient communication between the cyst and the subarachnoid cistern.  (+info)

Idiopathic sclerotic inflammation of the orbit with left optic nerve compression in a patient with multifocal fibrosclerosis. (8/852)

We present the MR imaging findings in a 43-year-old male patient with bilateral idiopathic sclerosing inflammation of the orbit. Bilateral enhancing retrobulbar masses, with concentric compression of the retrobulbar segment of the left optic nerve, were seen. MR imaging proved to be the only means to distinguish between the different intraorbital structures and to determine the exact site of optic nerve compression. To our knowledge, this is the first documented case of MR imaging findings of this entity.  (+info)