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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To minimize the risk of visual loss in diabetic patients, recognition of early signs of oculopathy is essential. Diabetes-associated third-nerve palsy is manifested by unilateral ptosis and exotropia. Symptoms of closed-angle glaucoma are intense pain, halos around lights, and blurred vision. Open-angle glaucoma does not necessarily produce symptoms and is treated medically. A gradual decrease in visual acuity, sometimes associated with photophobia and difficulty in night driving, and monocular diplopia, are manifestations of cataract. The patient with "background" retinopathy usually complains of blurred or distorted central vision. Once the macula is involved, vision progressively decreases. Although the relationship of metabolic control to retinopathy has not been settled, evidence indicates that good medical control of the disease may delay onset of vascular complications.
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PMID:Four common ocular complications of diabetes--and how to treat them. 71 Aug 91

In 1958, Kearns and Sayre described a multisystem entity, now known as Kearns-Sayre syndrome (KSS). The syndrome is defined as exhibiting a triad of thus far unexplained degenerative conditions: progressive external ophthalmoplegia, retinal pigmentary degeneration, and heart block. Commonly accompanying findings include cerebellar dysfunction and CSF protein levels above 100 mg/dl. Symptoms usually appear in early childhood, but the onset has been seen occasionally in young adults. KSS is a mitochondrial disorder that occurs rarely; the actual incidence is unknown. Ocular findings consist of bilateral ptosis, chronic progressive external ophthalmoplegia, and pigmentary retinopathy. Corneal clouding and optic neuritis are infrequent. We herein report a classic case of Kearns Sayre syndrome and discuss the findings.
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PMID:Kearns-Sayre syndrome: a case report and review. 163 60

A 9-year-old girl and an 11-year-old boy had ptosis, progressive external ophthalmoplegia, pigmentary retinopathy, and sensorineural hearing loss. The girl had diabetes mellitus and the boy had hypoparathyroidism. Both children also developed recurrent vomiting and cerebral infarcts with lactic acidosis. Muscle biopsy specimens showed ragged-red fibers and Southern analysis demonstrated a distinct heteroplasmic deletion of muscle mitochondrial DNA in each patient but no evidence of the point mutation in the transfer RNALeu(UUR) gene recently identified in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). These 2 children had combined features of Kearns-Sayre syndrome and MELAS, suggesting that mitochondrial DNA deletions occasionally can have pleomorphic clinical expression.
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PMID:Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes. 189 71

Renal tubular acidosis and tetany were the 1st manifestations of Kearns-Sayre syndrome in a 5-year-old child. Subsequently, he developed progressive external ophthalmoplegia, ptosis, retinopathy, heart block, and endocrinopathy. There was a 7.5-kb deletion of mitochondrial DNA documented in muscle, kidney, skin fibroblasts, and leukocytes, providing evidence for a multisystem mitochondrial cytopathy.
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PMID:Kearns-Sayre syndrome presenting as renal tubular acidosis. 223 34

In 204 adult, white diabetics the palpebral fissure was measured and related to the state of metabolic control of the diabetes. A control group was formed of 204 persons matched by age and sex. The average palpebral fissure in the control group was 9.9 mm: there was a slight, but not significant, difference between the age groups and the sexes. In diabetics who were not insulin dependent the average width of the palpebral fissure was found to be 9.4 mm; in severe chronic deregulation of the diabetes, however, an average palpebral fissure of 8.0 mm was found, a significant narrowing. In insulin-dependent diabetics the average width of the palpebral fissure was 8.3 mm. This significant narrowing also increased if there was severe chronic deregulation of the diabetes. The average palpebral fissure associated with proliferative retinopathy in insulin-dependent type 1 diabetics was 6.0 mm (nearly 4 X standard deviation). This ptosis in diabetes is very probably due to chronic tissue hypoxia, to which the levator palpebrae muscle is probably extra sensitive, and in which thickening of the basal membrane of the capillaries may be one of the most important factors.
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PMID:Narrowing of the palpebral fissure in diabetes. 666 9

Two postmortem eyes from a 52-year-old man with Kearns-Sayre syndrome were examined by light, scanning, and transmission electron microscopy. Prior to death, pronounced ptosis, total external ophthalmoplegia, an episodic ventricular cardiac arrhythmia, and an atypical pigmentary retinopathy characterized by "choroidal sclerosis" and pigment clumping were documented. Histopathologic examination revealed atrophy of the retinal pigment epithelium and outer retina that was most marked posteriorly. The preservation of photoreceptors appeared to mirror the health of the underlying retinal pigment epithelium. Numerous healthy appearing rods were present in the relatively well-preserved temporal retina. The pattern of photoreceptor degeneration observed in this form of "atypical retinitis pigmentosa" suggests that the primary defect may reside in the retinal pigment epithelium.
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PMID:The atypical pigmentary retinopathy of Kearns-Sayre syndrome. A light and electron microscopic study. 716 86

The paper describes Kearns-Sayre's syndrome, a rare hereditary neuromuscular disease, in a patient aged 17 years. The clinical picture of the disease had a classical triad: external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction disturbances. This triad was supplemented with other polymorphous symptoms characteristic of the syndrome, such as moderate myopathic syndrome, hemeralopia, physical infantilism, hypogonadism, pyramidal syndrome. Bifascicular block in the His-Purkinje system was accompanied by mitral prolapse. The problems of early diagnosis of the syndrome and choice of adequate therapeutical methods are discussed.
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PMID:[The Kearns-Sayre syndrome]. 815 11

The ophthalmologic findings associated with frontonasal dysplasia have not been defined previously in a large series of untreated children. We reviewed the ophthalmic manifestations of a series of patients with frontonasal dysplasia who were seen as part of their craniofacial evaluation. All had undergone a complete ophthalmologic examination before any manipulation of either the orbits or the soft tissues of the orbital contents. From 1986 to 1991, 23 patients with frontonasal dysplasia were seen; ophthalmologic abnormalities were found in 20 (87 percent). Abnormalities included significant refractive errors, strabismus, nystagmus, and eyelid ptosis. Three patients had amblyopia, a treatable cause of visual loss, from strabismus or anisometropia. Ten eyes in seven patients (30 percent) had severe structural anomalies, such as optic nerve hypoplasia, optic nerve colobomas, microphthalmia, cataract, corneal dermoid, or inflammatory retinopathy, that resulted in an acuity of 20/100 or worse. The high incidence of ocular abnormalities indicates that early assessment by an ophthalmologist should be part of the initial evaluation of patients with frontonasal dysplasia to detect treatable visual or ocular problems.
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PMID:Ocular manifestations of frontonasal dysplasia. 827 82

A 35-year-old woman with features of Kearns-Sayre syndrome consisting of progressive ptosis, ophthalmoparesis, mitochondrial myopathy, and pigmentary retinopathy also had autoimmune polyglandular syndrome type 11 (Addison's disease, autoimmune insulin-dependent diabetes mellitus, Hashimoto's thyroiditis, and primary ovarian failure). There was no history of similarly affected relatives. Analysis of muscle mitochondrial DNA (mtDNA) revealed a 2,532-bp deletion of the type seen in Kearns-Sayre syndrome as well as a heteroplasmic A3243G mutation in the tRNA-Leu(UUR) gene of the type seen in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). The patient's blood and her mother's blood harbored the A3243G mutation but not the deletion, and the maternal grandmother's blood had neither mutation. In muscle, the species of mtDNA harboring the deletion was exclusively associated with the species harboring the A3243G mutation, suggesting that the point mutation predisposed to the large-scale deletion. The mtDNA species with both mutations accounted for 88% of total muscle mtDNA. Other and as yet unrecognized point mutations in mtDNA might also be associated with, and possible causally related to, large-scale mtDNA deletions.
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PMID:MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy. 865 48

Kearns Sayre Syndrome (KSS) belongs to the group of so called 'mitochondrial encephalopathies'. Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) may have the potential to noninvasively detect and monitor disease specific cerebral involvement, as we wish to demonstrate in a patient whom we have followed for 3.5 years. At first presentation with incomplete external ophthalmoplegia, ptosis, pigmentary retinopathy and impaired hearing MRI demonstrated ill defined areas of symmetric T2-prolongation in the dorsal parts of the mesencephalon, the pons and in both cerebellar hemispheres. While the patients clinical symptoms deteriorated, including the onset of dysphagia, signal abnormalities spread downwards into the medulla oblongata involving the glossopharyngeal nuclei and supratentorially into the white matter. Proton MRS performed with the PRESS sequence (TR/TE 1500/136 ms) in the area of white matter damage showed a doublet at 1.33 ppm, which is characteristic for the presence of lactate. Our findings suggest MRI abnormalities to increase in parallel with neurologic progression of KSS and confirm the utility of 1H-MRS in supporting mitochondrial respiratory chain insufficiency as the underlying cause of parenchymal alterations.
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PMID:Magnetic resonance imaging and spectroscopy of progressive cerebral involvement in Kearns Sayre Syndrome. 886 68


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