11/312. Optic glioma with characteristic bilateral optic atrophy in a 3-year-old girl.We report a case of optic glioma with bilateral optic atrophy. A 3-year-old girl presented with vomiting and left hemiparesis. She had hypothalamic dysfunction, right ptosis, right monocular nystagmus, left facial palsy, left hemiparesis, and left pes adductus. neuroimaging studies showed obstructive hydrocephalus with a large suprasellar calcified tumor with a ring-like enhancement mimicking craniopharyngioma. Visual-evoked potentials showed delayed latency of N75 in the right occipital lead. The tumor, a pilocytic astrocytoma in the right optic tract and chiasma, was partially removed via a right frontotemporal craniotomy. The right optic nerve had shrunk to half the normal diameter and became twisted downwardly. intracranial pressure (ICP) increased to 40 cm H2O. The fundus had bilateral optic atrophy without disc swelling. To our knowledge, this is the first report of a lamina/dot sign of the optic disc in a small child with a brain tumor and a normal neuroretinal fiber layer. These ocular findings may result from possible interruption of the axonal flow caused by the tumor and not increased ICP.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
12/312. DeSanctis-Cacchione syndrome.We report a case of DeSanctis-Cacchione syndrome presenting with unusual features like early onset of cutaneous lesions and optic atrophy.- - - - - - - - - - ranking = 0.16666666666667keywords = atrophy (Clic here for more details about this article) |
13/312. Bilateral optic atrophy following diabetic ketoacidosis.diabetic ketoacidosis (DKA) can result in neuropathic abnormalities of the somatic and the autonomous nervous systems. We report the case of a 50-year-old man with Type 1 diabetes of 20-year duration who after severe DKA lost vision in his right eye and only retain partial vision in his left. This case demonstrates that optic neural tissue is vulnerable to haemodynamic and metabolic complications of DKA.- - - - - - - - - - ranking = 0.66666666666667keywords = atrophy (Clic here for more details about this article) |
14/312. A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.We report the first de novo mutation in the DDP gene in a Dutch 11-year-old boy with deafness and dystonia. Previously reported mutations in the DDP gene have all been frameshifts/nonsense mutations or deletion of the entire gene as part of a larger deletion encompassing the BTK gene. The clinical presentation was uniformly characterised by sensorineural hearing loss, dystonia, mental deterioration, paranoid psychotic features, and optic atrophy, indicating progressive neurodegeneration. Our report illustrates that de novo mutations occur and that a missense mutation, C66W, may cause an equally severe clinical picture. The diagnosis of sensorineural hearing impairment associated with neurologic and visual disability in a male, therefore, should encourage the search for mutations in the DDP gene, even in sporadic cases. The association of deafness-dystonia syndrome with a missense mutation provides valuable information for in vitro investigations of the functional properties of the deafness-dystonia peptide which was recently shown to be the human homolog of a yeast protein, Tim8p, belonging to a family of small Tim proteins involved in intermembrane protein transport in mitochondria.- - - - - - - - - - ranking = 0.83333333333333keywords = atrophy (Clic here for more details about this article) |
15/312. Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome.OBJECTIVE: To report the histopathologic findings of eyes from a patient with Leigh's syndrome associated with the T 8993-G point mutation in mitochondrial dna (mtDNA). DESIGN: Case report. INTERVENTION: A child with hypotonia, developmental delay, persistent lactic acidosis, seizures, and ataxia died of aspiration pneumonia at 15 months of age. Analysis of dna isolated from blood was positive for the T to G point mutation at position 8993 in mtDNA, and the proportion of mutant genomes was estimated at approximately 95%. The type and distribution of abnormalities seen in the brain at autopsy were consistent with those in patients with Leigh's syndrome. MAIN OUTCOME MEASURES: The left eye was examined by light microscopy, and segments of the right eye were examined by transmission electron microscopy. Genetic analysis on dna isolated from blood was performed. RESULTS: Thinning of the nerve fiber and ganglion cell layers was present in the nasal aspect of the macula, and mild atrophy of the temporal aspect of the optic nerve head and optic nerve was present. Electron microscopic study disclosed numerous distended mitochondria in all cells, but particularly in the retinal pigment epithelium, nonpigmented ciliary epithelium, and corneal endothelium. CONCLUSION: This is a report of the ocular histopathologic findings in Leigh's syndrome with the T 8993-G point mutation. The light microscopic findings were similar to those of patients with similar features reported previously. In addition, ultrastructural abnormalities of mitochondria were present.- - - - - - - - - - ranking = 0.16666666666667keywords = atrophy (Clic here for more details about this article) |
16/312. A DIDMOAD syndrome family with juvenile glaucoma and myopia findings.We present here two DIDMOAD syndrome cases (diabetes mellitus, diabetes insipidus, optic atrophy, deafness) in a Turkish family. In the examination of the propositus who had consanguineous parents, diabetes mellitus, diabetes insipidus, optic atrophy, and deafness were observed in addition to myopia, juvenile glaucoma, posterior polar cataract, and dilatation of the urinary tract. diabetes mellitus, diabetes inspidus, optic atrophy, deafness, myopia, and ventricular septal defect were observed in his elder brother. Juvenile onset diabetes mellitus, congenital glaucoma, deafness, and heart disease were the other remarkable findings observed in relatives to this family. Juvenile glaucoma, posterior polar cataract observed in our propositus, and myopia in both our DIDMOAD syndrome cases are the first ophthalmic manifestations described in the DIDMOAD syndrome.- - - - - - - - - - ranking = 0.33333333333333keywords = atrophy (Clic here for more details about this article) |
17/312. Perineurial cell hyperplasia in early-onset polyneuropathy with multiple cranial neuropathies.We describe a patient who as a teenager developed a sensory-motor polyneuropathy with optic atrophy. Over the next three decades, multiple cranial neuropathies appeared. Striking areas of subperineurial cellular proliferation were observed on sural nerve biopsy. The ultrastructural and immunohistochemical characteristics of these aggregates were those of perineurial cell hyperplasia. To our knowledge, this is the second full report associating perineurial cell hyperplasia with a sensory-motor polyneuropathy and the first in the English literature.- - - - - - - - - - ranking = 0.16666666666667keywords = atrophy (Clic here for more details about this article) |
18/312. Radioactive plaque therapy for metastatic choroidal carcinoma.PURPOSE: To describe the outcome of radioactive episcleral plaque therapy for treatment of metastatic carcinoma to the choroid. DESIGN: Retrospective, noncomparative case series. PARTICIPANTS: Five patients (six eyes) with carcinoma metastatic to the choroid. methods: Retrospective review of the clinical records of five patients (six eyes) who underwent radioactive episcleral plaque therapy for choroidal metastases. MAIN OUTCOME MEASURES: Tumor height, visual acuity, radiation optic neuropathy, and radiation retinopathy. RESULTS: Radioactive episcleral plaque therapy resulted in shrinkage of the treated tumors and resolution of subretinal fluid in all eyes. After plaque treatment, best-corrected visual acuity was maintained within two lines of initial visual acuity for two eyes, decreased more than two lines for one eye, and improved more than two lines in three eyes. The treatment was well tolerated and there was no acute toxicity. Late complications included optic nerve atrophy (at 2 years) with proliferative radiation retinopathy (at 3 years) in one eye and optic atrophy (at 6 months) in another eye that had received prior external beam therapy. CONCLUSIONS: In carefully selected cases, radioactive episcleral plaque therapy appears to be an effective and reasonable treatment for carcinoma metastatic to the choroid.- - - - - - - - - - ranking = 0.33333333333333keywords = atrophy (Clic here for more details about this article) |
19/312. Reversal of optic canal stenosis in osteopetrosis after bone marrow transplant.PURPOSE: To describe a patient with infantile osteopetrosis and optic atrophy secondary to optic canal stenosis who demonstrated optic canal enlargement after bone marrow transplant. methods: Case report. A 3-month-old infant with infantile "malignant" osteopetrosis underwent ophthalmic examination, including visual evoked potentials, electroretinogram, and computed tomography (CT). bone marrow transplant was performed at 8 months of age. RESULTS: Examination revealed visual loss and optic atrophy, left eye greater than right eye, secondary to optic canal stenosis. Flash visual evoked potentials revealed a normal waveform in both eyes with increased latency in the left eye. Electroretinogram was normal in both eyes. CT after bone marrow transplant showed enlargement of the optic canals. Vision remains stable 43 months after bone marrow transplant. CONCLUSIONS: bone marrow transplant in infantile osteopetrosis may be followed by reversal of optic canal stenosis and preservation of vision.- - - - - - - - - - ranking = 0.33333333333333keywords = atrophy (Clic here for more details about this article) |
20/312. Pachymeningitis with pseudo-Foster Kennedy syndrome.PURPOSE: To report a case of pachymeningitis with pseudo-Foster Kennedy syndrome in a patient who was positive for perinuclear antineutrophil cytoplasmic antibody. methods: Case report. A 44-year-old man was examined for headache and diplopia. RESULTS: Left eye showed limitation of abduction. Ocular fundus, computed tomography (CT), and magnetic resonance imaging (MRI) of the head and orbits were normal. The diplopia subsided spontaneously. Six months later, he noticed sudden visual loss in the left eye. The left eye showed optic disk atrophy and episcleritis, and the right eye showed papilloedema. Computed tomography and MRI exhibited thickened dura mater. serum perinuclear antineutrophil cytoplasmic antibody level was highly increased. CONCLUSION: Pachymeningitis with ocular involvement sometimes requires repeated CT or MRI for diagnosis. This disorder may be caused by microvasculitis.- - - - - - - - - - ranking = 0.16666666666667keywords = atrophy (Clic here for more details about this article) |
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