Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A study was carried out of monocular disc photographs from 33 eyes for which the visual fields on both static profile and kinetic perimetry has been performed. Physical signs looked for at the optic disc included thinning of the neuroretinal rim, angulation of retinal vessels, extension of laminar dots, undercutting of the neuroretinal rim, and absence and pallor of the neuroretinal rim. These signs together proved more accurate than kinetic Goldmann perimetry in identifying the presence of glaucomatous visual field defect. Of these signs angulation of the retinal vessels was the one most consistently present.
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PMID:Identification of glaucomatous visual field defects from examination of monocular photographs of the optic disc. 667 Oct 98

Intrasellar arachnoid cyst is very rare. We report a case of intrasellar arachnoid cyst. A 44-year-old male was admitted for evaluation of his headache and visual disturbance on August 6, 1993. Neurological examination revealed bilateral decreased visual acuity and visual field defect. Endocrinological examination showed panhypopituitarism. Other neurological findings were normal. X-ray film of the skull showed a ballooning dilation of the sella turcica with thinning of the sellar floor. CT scan showed a cystic lesion with CSF-density occupied the sella. After intravenous administration of contrast medium, the cyst showed no enhancement. MRI showed the intrasellar mass had the same characteristics as the surrounding subarachnoid space. Bilateral carotid angiographies demonstrated that the carotid siphons were stretched and displaced laterally, and the A1 portions of the anterior cerebral arteries were raised. We made a diagnosis of intrasellar cystic lesion. On August 18, the sella turcica was opened via the transsphenoidal rhinoseptal approach. The cyst contained CSF-like fluid, and a part of the cyst wall was resected. The cavity was filled with Gelfoam and the sellar floor was repaired with bone flap. Postoperatively, the patient's visual disturbance improved, but diabetis insipidus appeared and required hormonal replacement. The patient was discharged on September 27 with improvement of visual acuity and visual field. Histological examination demonstrated that the cyst wall consisted of thick arachnoidal cells with fibrous connective tissue. The arachnoidal cells with oval nuclei was stained with epithelial membrane antigen. Symptoms, signs and radiological findings of intrasellar arachnoid cyst are similar to those of various sellar lesions including pituitary adenoma, craniopharyngioma, empty sella, Rathke's cleft cyst, epidermoid et al.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Intrasellar arachnoid cyst: a case report]. 756 27

Leber's disease is a disease of optic atrophy first reported by Theodor Leber in 1871. Since then, 130 years have passed. Recently, several new findings about the pathology, causes, and heredity of this disease have been made. In 1988 Wallace and others reported a new mutation of 11778 base pairs of mtDNA of patients with Leber's disease. Since then, the study of this disease has progressed remarkably. In this review clinical studies on Leber's disease which were carried out in our department from 1990 are summarized. 1. Genetic diagnosis and clinics Two hundred and twenty-four cases were examined, including patients at our hospital, for the 8 years between 1990 and 1998. Among them, 72 cases were diagnosed as Leber's disease. There were 3 cases (4%) of 3460 mutations, 63 cases(83%) of 11778 mutations, and 6 cases(8%) of 14484 mutations as primary mutations. The reasons for performing the genetic diagnosis were mostly the need for a definite diagnosis of Leber's disease and research on the genesis of optic nerve atrophy of unknown origin. Concerning the secondary mutations, it was confirmed that these mutations were polymorphic as seen in European and American patients. There is a problem of heteroplasmy about the mtDNA mutation. We developed a simple and exact method to evaluate heteroplasmy by using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). In a study of peripheral blood samples in one family, Leber's disease does not appear under conditions of less than 60% mtDNA mutation. As for the three kinds of mutation in Leber's disease, cases of recovery of a visual acuity of 0.3 and above were only 7% in 11778 mutations, but 38% in 3460 mutations and 50% in 14484 mutations. It is assumed that visual prognosis depends on the kind of mutation. 2. Characteristics of visual evoked potential(VEP) In pattern VEP in the acute stage, latency was not delayed very much, but the amplitude was low. On the other hand, in the acute stage of optic neuritis, the latency was very much delayed and the amplitude was diminished. Therefore, I deduced that not only demyelination of the optic nerve fibers but also papilla-macula bundle defects may play an important role. In flash VEP, only the amplitude was low, but latency was normal. 3. Image analysis of the optic nerve In high resolution T2-weighted fast spin-echo magnetic resonance imaging(MRI), the image of the optic nerve can be clearly demonstrated within a short operation time. In MRI in the acute stage of Leber's disease, the image of the optic nerve appeared almost normal. But in the course of time, patients with Leber's disease showed markedly high signals in the optic nerve on the T2-weighted fast spin-echo MRI, and in the atrophic stage the image of the optic nerve showed thinning. The results in this study support the hypothesis that a primary lesion in Leber's disease may be intraocular. 4. Possibility of therapy at the present time The effectiveness of using idebenone combined with vitamin B2, vitamin C, and isopropyl unoprostone(Rescula) for recovery of the circulation of the optic nerve head for patients in the acute stage was compared with untreated patients. In patients with visual acuity of 0.3 and more, there was no statistical difference between the two groups. The recovery interval up to 0.3 was significantly shorter in the treated group than in the untreated group. I suggest that this kind of treatment may aid spontaneous recovery. Among 15 cases of Leber's disease which occurred in the patients teens, at least one eye in 8 cases(53%) recovered to 0.3 or more. Among the 8 recovered cases, 5 cases were from the treated group. On the other hand, 6 cases were treated and 5 cases recovered visual acuity. It is said that the patients developing the disease at younger ages have a tendency toward visual recovery. Pharmacological treatment can aid recovery. 5. Visual function after the recovery of visual acuity The recovery of visual acuity in Leber's disease has the characteristics of fenestrated central scotoma. The visual acuity can be recovered by the appearance of a small part of sensitive area inside the absolute central scotoma. This phenomenon coincides with the results of VEP which does not recover in spite of recovery of vision. Good visual acuity or bad visual acuity depends not only on the recovery of the total area of the central part but on the existence of an area with good sensitivity. In the results of a Humphrey visual field analyzer(10-2) obtained from 8 recovering patients, the part nasal to the fovea was more sensitive than the temporal area. In the early stage of visual recovery, scanning laser ophthalmoscope(SLO) microperimetry can detect this sensitive area, and with the enlargement of this sensitive area, the Humphrey visual field analyzer(10-2) can also detect this recovery area. 6. Strategy for gene therapy We have succeeded in cloning a human retina-specific amine oxidase gene which was found specifically in retinal ganglion cells. By using this promoter, we are now developing a vector specific to the ganglion cells. The fact that there is spontaneous recovery shows the possibility that some papillamacular bundle may exist. In Leber's disease, retinal ganglion cells may die from the mechanism of apoptosis. Therefore it may be possible to treat this disease by transferring the apoptosis block gene to ganglion cells for protection, and to protect the cells from death by apoptosis.
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PMID:[Past, present, and future in Leber's hereditary optic neuropathy]. 1180 55

The aim of this study was to characterize the pathological and functional consequences of the G1961E mutant allele in the Stargardt disease gene ABCA4. Data from 15 patients were retrospectively reviewed and all the patients had at least one G1961E mutation. Comprehensive ophthalmic examination, full-field and pattern electroretinograms, and fundus autofluorescence (FAF) imaging were performed on all patients. Microperimetry, spectral-domain optical coherence tomography (OCT), and fluorescein angiography were performed in selected cases. Genetic screening was performed using the ABCR400 micro-array that currently detects 496 distinct ABCA4 variants. All patients had normal full-field scotopic and photopic electroretinograms (ERGs) and abnormal pattern electroretinograms (PERGs) performed on both eyes, and all the fundi had bull's eye maculopathy without retinal flecks on FAF. On OCT, 1 patient had disorganization of photoreceptor outer segment, 2 had outer nuclear layer (ONL) thinning likely due to photoreceptor atrophy proximal to the foveal center, and 3 had additional retinal pigment epithelium (RPE) atrophy. On microperimetry, 6 patients had eccentric superior fixation and amongst this group, 5 had an absolute scotoma in the foveal area. DNA analysis revealed that 3 patients were homozygous G1961E/G1961E and the rest were compound heterozygotes for G1961E and other ABCA4 mutations. The G1961E allele in either homozygosity or heterozygosity is associated with anatomical and functional pathologies limited to the parafoveal region and a trend to delayed onset of symptoms, relative to other manifestations of ABCA4 mutations. Our observations support the hypothesis that the G1961E allele contributes to localized macular changes rather than generalized retinal dysfunction, and is a cause of bull's eye maculopathy in either the homozygosity or heterozygosity state. In addition, genetic testing provides precise diagnosis of the underlying maculopathy, and current non-invasive imaging techniques could be used to detect photoreceptor damage at the earliest clinical onset of the disease.
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PMID:G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. 1921 3

This is the first case report of a bilateral superior segmental optic hypoplasia (SSOH) accompanied by a glaucomatous optic neuropathy (GON). A 47-year-old man incidentally diagnosed as having bilateral SSOH, simultaneously disclosed glaucomatous optic disc appearances, including enlargements of the cup of the optic nerve heads and a thinning of the infero-temporal neuroretinal rim with laminar dot sign accompanied by a retinal nerve fiber layer (RNFL) local defect of infero-temporal region in the right eye. The visual field examination revealed that the corresponding nasal step, arcuate scotoma and RNFLfield defects in the right eye.
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PMID:A case of superior segmental optic hypoplasia accompanied by a glaucomatous optic neuropathy. 1966 41

Idiopathic macular hole is characterized by a full thickness anatomic defect in the foveal retina leading to loss of central vision, metamorphopsia and a central scotoma. Classic macular hole surgery consists of vitrectomy, posterior vitreous cortex separation and intraocular gas tamponade, but during the past decade focus has especially been on internal limiting membrane (ILM) peeling as adjuvant therapy for increasing closure rates. With increasing use of ILM peeling and indocyanine green (ICG) staining, which is used for specific visualization of the ILM, concerns about the safety of the procedure have arisen. At present, it is not known whether ICG-assisted ILM peeling potentially reduces the functional outcome after macular hole surgery. The purpose of the present PhD thesis was to examine whether ICG-assisted ILM peeling offers surgical and functional benefit in macular hole surgery. We conducted a randomized clinical trial including 78 pseudophakic patients with idiopathic macular hole stages 2 and 3. Patients were randomly assigned to macular hole surgery consisting of (i) vitrectomy alone without instrumental retinal surface contact (non-peeling), (ii) vitrectomy plus 0.05% isotonic ICG-assisted ILM peeling or (iii) vitrectomy plus 0.15% trypan blue (TB)-assisted ILM peeling. Morphologic and functional outcomes were assessed 3, 6 and 12 months after surgery. The results show that surgery with ILM peeling, for both stages 2 and 3 macular holes, is associated with a significantly higher closure rate than surgery without ILM peeling (95% versus 45%). The overall functional results confirm that surgery for macular hole generally leads to favourable visual results, with two-thirds of eyes regaining reading vision (>or=20/40). Macular hole surgery can be considered a safe procedure with a low incidence of sight-threatening adverse events; the retinal detachment rate was 2.2%. Visual outcomes in eyes with primary hole closure were not significantly different between the intervention groups; however, for the stage 2 subgroup with primary macular hole closure, there was a trend towards a better mean visual acuity in the non-peeling group (78.2 letters) compared to the ICG-peeling group (70.9 letters), p = 0.06. Performing repeated macular hole surgery was associated with a significant reduction in functional outcome indicating that primary focus should be on closing the macular hole in one procedure. Morphological studies of closed macular holes with contrast-enhanced optical coherence tomography (OCT) found thinning and discontinuity of the central photoreceptor layer matrix that were highly specific for predicting the likelihood of an eye having regained reading vision 12 months after macular hole surgery. Additionally, healing after macular hole surgery appeared to begin with the contraction of the inner aspect of the retina, forming a roof over a subfoveal fluid-filled cavity, and to end with a gradual restoration of the anatomy in the outer layers of the retina at the junction of the photoreceptor inner and outer segments. We found the more intact this structure was on contrast-enhanced OCT 3 months after macular hole surgery, the better the visual acuity after 12 months, whereas late rather than early resolution of subfoveal fluid had no impact on final visual outcome. The use ILM peeling and intraoperative dyes did not have any functionally important effects on postoperative macular structure. Based on the above findings, we conclude that ILM peeling should be performed in all cases of full thickness macular hole surgery. The use of 0.05% intraoperative isotonic ICG with short exposure time appears to be a safe alternative in stage 3 macular hole surgery, whereas a slight reduction in functional potential not can be excluded when performing 0.05% isotonic ICG-assisted ILM peeling in stage 2 macular hole surgery.
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PMID:Value of internal limiting membrane peeling in surgery for idiopathic macular hole and the correlation between function and retinal morphology. 1991 35

We present detailed ophthalmic findings in a case of tuberculum sellae meningioma with acute visual symptoms due to optic canal involvement. A 62-year-old Japanese woman reported a 1-week history of headaches and blurred vision in her left eye. Her visual acuity was 0.3 in the left eye with no ophthalmoscopic abnormalities. A relative afferent pupillary defect and inferior temporal field defect were found in the left eye. Pattern visual evoked potentials were undetectable in the left eye. Enhanced magnetic resonance imaging showed a 9 mm intracranial lesion around the left optic nerve anterior to the chiasm. She was diagnosed with granulomatous inflammation because of the increased cell counts and protein concentration in the cerebrospinal fluid. She was treated with steroid pulse therapy, and her visual acuity and visual field defect improved to normal in 3 weeks. However, 16 months after the onset, she suffered from headaches again and had a complete loss of vision in her left eye. There was no response to steroid pulse therapy. Enhanced magnetic resonance imaging revealed that the lesion had extended into the left optic canal, and emergency tumor removal surgery was carried out. The histopathological diagnosis was meningioma. One month after the surgery, her left visual acuity improved to 1.2, and her visual field was almost normal. Pattern visual evoked potentials were present but had a prolonged P(100) latency of 170 ms. A thinning of the ganglion cell complex was detected by optical coherence tomography. Ophthalmologists should be aware that a small tuberculum sellae meningioma can cause acute visual symptoms due to optic canal involvement. Early consultation with a neurosurgeon is necessary. Visual evoked potentials and optical coherence tomography are sensitive and helpful in following patients with optic nerve compression.
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PMID:Case of acute optic nerve compression caused by tuberculum sellae meningioma with optic canal involvement. 2265 90

The study enrolled 177 patients that had been admitted to the Research Institute of Eye Diseases of the Russian Academy of Medical Sciences for diagnostics and treatment - 134 patients with idiopathic macular hole and 43 patients with epiretinal fibrosis. All vitreomacular surgeries were performed between 2005 and 2011. Visual field defects were seen in all groups and were classified as either peripheral or paracentral, or concentric. The groups differed by the rate and the localization of the visual field defects. A direct relation between the severity of iatrogenic retinal damage, the extent of postoperative retinal thinning and the presence/type of visual field defects was established. Causes and risk factors of visual field loss after vitreomacular surgery have been identified and analyzed. Preventive measures for this complication have been proposed. Treatment efficacy varied depending on the causes. Acute peripheral visual field loss--"tunnel phenomenon"--as a result of significant iatrogenic local retinal damage during vitreomacular surgery has been described.
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PMID:[Field of view changes after vitreomacular surgery: a treatment quality criteria]. 2426 Dec 88

Pigmented paravenous retinochoroidal atrophy is an ocular disease characterized by outer retina and choroidal atrophy often with overlying intraretinal bone spicule pigment deposition along the retinal veins. As a rare condition, there is scant information in the literature regarding the pattern of inner retinal layers involvement. We present a case of a 41-year-old white man initially referred for a glaucoma evaluation. Fundoscopy revealed patches of retinochoroidal atrophy and light pigmentation extending from the optic nerve head along the inferior-temporal retinal veins in both eyes. Using different spectral-domain optical coherence tomography (SD-OCT) protocols we identified a significant thinning of the inner retinal layers along the inferior-temporal veins, but with a lucid interval surrounding the optic nerve head. Standard automated perimetry revealed a superior absolute arcuate scotoma sparing the central fixation (good structure-functional correlation). This pattern of inner retinal layers involvement was not previously described. We believe SD-OCT added significantly to the anatomical description of this case. Physicians should consider these new anatomical findings and correlate them with functional status while assessing these patients.
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PMID:Pattern of inner retinal layers involvement in pigmented paravenous retinochoroidal atrophy as determined by SD-OCT: case report. 2451 89

A 48-year-old man was examined 24 months after medial and surgical treatment of an isolated well-circumscribed right occipital lobe abscess. An asymptomatic residual left homonymous inferior scotoma was present. Fundus examination revealed temporal pallor of both optic discs, and optical coherence tomography (OCT) revealed mild temporal loss of retinal nerve fiber layer in both eyes. No relative afferent pupillary defect was present. Assessment of the retinal ganglion cell layer demonstrated homonymous thinning in a pattern corresponding to the homonymous visual field loss. There were no abnormalities of the lateral geniculate nuclei or optic tracts on review of the initial brain computed tomography and follow-up magnetic resonance imaging. We believe our patient showed evidence of transsynaptic retrograde degeneration after an isolated right occipital lobe lesion, and the homonymous neuronal loss was detected on OCT by assessing the retinal ganglion cell layer.
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PMID:Homonymous Ganglion Cell Layer Thinning After Isolated Occipital Lesion: Macular OCT Demonstrates Transsynaptic Retrograde Retinal Degeneration. 2528 23


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