1/156. Ophthalmic findings in GAPO syndrome.BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). CASES: This syndrome has been described in 21 patients from 16 different families. Four cases are from turkey and have been presented by Sayli and Gul. The purpose of our study is to document the cases from turkey and discuss the ophthalmological and neuro-ophthalmolgical findings of these and other reported GAPO cases. OBSERVATIONS: All patients in the literature and our 4 cases have severe growth retardation with delayed bone age in infancy, characteristic facial appearance (high and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. optic atrophy was present in 1 of our cases and in 5 previous cases. glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also observed. White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: optic atrophy is not a constant finding in GAPO syndrome. glaucoma may accompany the ocular findings. This syndrome has been attributed to either ectodermal dysplasia or the accumulation of extracellular connective tissue matrix, due to an enzyme deficiency involved in its metabolism. Current studies show that an elastin defect and secondary changes in collagen may be important in the pathogenesis of the disease.- - - - - - - - - - ranking = 1keywords = ocular, eye (Clic here for more details about this article) |
2/156. Ocular changes in mucopolysaccharidosis iv A (Morquio A syndrome) and long-term results of perforating keratoplasty.BACKGROUND: The mucopolysaccharidoses (MPS) are an inhomogeneous group of disorders of errors in the carbohydrate metabolism with severe ocular involvement (corneal opacification, retinal degeneration, optic atrophy). PATIENT PRESENTATION: We report on a boy aged 12 years, with Morquio A (MPS IV A) syndrome. Ocular findings: progressive pseudoexophthalmus due to shallow orbits, increasing corneal stromal clouding, intermittent dissociated manifest nystagmus of the left eye, nyctalopia. visual acuity OD cc = 0.16, OS cc = 0.05. electrophysiology: changes suggesting a symptomatic tapetoretinal degeneration and optic atrophy. TREATMENT AND COURSE OF disease: OS: perforating keratoplasty. Postoperative improvement of visual acuity to 0.25 for nearly a year, followed by progressive reopacification of the corneal graft. Both eyes: progressive signs of tapetoretinal degeneration and optic atrophy. visual acuity now reduced to OD 0.05, OS 0.1. CONCLUSIONS: Success of a keratoplasty is limited by (1) reopacification of the cornea, (2) visual impairment due to (a) retinal degeneration and (b) optic atrophy. The indication for perforating keratoplasty has to be thought about very carefully in these multimorbid patients. In our patient, beside progressive visual impairment there is a progressive deafness which dominates his social and school life. Attending school is severely complicated by the double handicap. Perforating keratoplasty enabled the boy to attend a school for physically handicapped without a special low-vision care for another year. Progressive visual loss without further treatment options now renders optical and electronic low-vision aids necessary. Although the time of improved visual acuity lasted less than a year, we think patients with a life expectancy of less than 20 years should have every possible improvement of their situation - even if it does not last permanently. We therefore propose perforating keratoplasty in spite of insufficient long-term results.- - - - - - - - - - ranking = 1.4689318163644keywords = ocular, eye (Clic here for more details about this article) |
3/156. Optic neuropathy following amiodarone therapy.Ocular changes during treatment with amiodarone are almost universal but are rarely serious. In this article we describe three patients from a single electrophysiology practice in whom optic neuropathy developed during treatment with amiodarone. All three patients were more than 65 years of age. The doses of amiodarone ranged from 100 to 400 mg/day, and the time intervals between the initiation of the amiodarone therapy and the appearance of first symptoms of optic neuropathy were 5 to 19 months. Two patients had bilateral involvement, and one had only unilateral involvement. Whether this result was due solely to amiodarone therapy, to the underlying poor health of these patients, or to the combination of these two factors is uncertain. These findings prompt us to recommend that all patients who receive amiodarone undergo complete ophthalmologic examinations, including careful evaluation of the ocular fundus regularly during such therapy. No randomized study had been undertaken to determine the true incidence of complications associated with this medication.- - - - - - - - - - ranking = 0.53106818363563keywords = ocular (Clic here for more details about this article) |
4/156. Surgical chorioretinal venous anastomosis for ischemic central retinal vein occlusion.BACKGROUND AND PURPOSE: To report results of a pilot study to create chorioretinal venous anastomosis (CRVA) in eyes with ischemic central retinal vein occlusion (CRVO) via a pars plana approach. patients AND methods: Five eyes of 5 patients with ischemic CRVO underwent surgical CRVA. Following pars plana vitrectomy, the posterior hyaloid face was removed, and slit-like incisions were made with a microvitreoretinal blade adjacent to a major retinal vein in each quadrant. Small pieces of 50 Mersilene sutures (Ethicon, Somerville, NJ) were positioned over the vein and inserted into these incisions to promote vascularization. Panretinal photocoagulation was applied. RESULTS: A functional CRVA site was noted at 10 of 16 attempted sites (4 sites in 1 patient could not be evaluated because of cataract). Minor fibrous proliferation was noted at CRVA sites in all eyes. optic atrophy developed in 3 eyes. visual acuity improved in 3 eyes, remained unchanged in 1, and deteriorated in 1 eye after a mean follow up of 13.4 months (range 8-20 months). CONCLUSION: Surgically induced CRVA may improve the prognosis in some eyes with ischemic CRVO.- - - - - - - - - - ranking = 3.2825227145506keywords = eye (Clic here for more details about this article) |
5/156. Conradi-Hunermann syndrome with ocular anomalies.We report a Japanese girl with the Conradi-Hunermann form of chondrodysplasia punctata and anterior segment malformations characteristic of Axenfeld-Rieger syndrome. The patient also had cataracts and unilateral optic atrophy. A possible role for homeobox-containing genes in the etiology of this type of chondrodysplasia punctata is suggested as an explanation for the coincidence of these two syndromes.- - - - - - - - - - ranking = 2.1242727345425keywords = ocular (Clic here for more details about this article) |
6/156. 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 = 1.0621363672713keywords = ocular (Clic here for more details about this article) |
7/156. 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 = 0.46893181636437keywords = eye (Clic here for more details about this article) |
8/156. 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 = 1.9378636327287keywords = ocular, eye (Clic here for more details about this article) |
9/156. 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 = 3.751454530915keywords = eye (Clic here for more details about this article) |
10/156. 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 = 2.3446590818219keywords = eye (Clic here for more details about this article) |
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