Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital fibrosis of the extraocular muscles is characterized by the replacement of normal contractile muscle tissue by fibrous tissue or fibrous bands in varying degrees. The clinical entities which result from the fibrous replacement can be classified under the following headings: general fibrosis syndrome, congenital fibrosis of the inferior rectus muscle with blepharoptosis strabismus fixus, vertical retraction syndrome and congenital unilateral fibrosis, enophthalmos, and blepharoptosis. Genetic factors may or may not be apparent. One pedigree with general fibrosis syndrome was traced through five generations. Light and electron microscopy demonstrated replacement of normal muscles by collagen and dense fibrous tissue with occasional areas of degenerated skeletal muscle. The surgical management attempts to achieve some functional readjustment of the ocular and lid position as well as the abnormal head posture. The surgical results were considered satisfactory when compared with the original position of the eyes and the backward head tilt.
J Pediatr Ophthalmol Strabismus
PMID:Congenital fibrosis of the extraocular muscles. 73 62

Congential fibrosis of the extraocular muscles is characterized by the replacement of normal contractile muscle tissue by fibrous tissue or fibrous bands in varying degrees. The clinical entities which result from the fibrous replacement can be classified under the following headings: general fibrosis syndrome, congenital fibrosis of the inferior rectus muscle with blepharoptosis, strabismus fixus, vertical retraction syndrome and congential unilateral fibrosis, enophthalmos and blepharoptosis. Genetic factors may or may not be apparent. One pedigree with general fibrosis syndrome was traced through five generations. Light and electron microscopy demonstrated replacement of normal muscle by collagen and dense fibrous tissue with occasional areas of degenerated skeletal muscle. The surgical mangement attempts to achieve some functional readjustment of the ocular and lid position as well as the abnormal head posture. The surgical results were considered satisfactory when compared with the original position of the eyes and the backward head tilt.
 ...
PMID:Congenital fibrosis of the extraocular muscles. 75 72

The ocular findings in eight patients with Cockayne syndrome included enophthalmos, hyperopia, poor pupillary dilation, and retinal dystrophy in all patients. Four patients had strabismus. Two patients had cataracts. Three patients had nystagmus. Visual acuity was relatively well preserved in six patients, including a 25-year-old man with a visual acuity of 20/60 in each eye despite advanced retinal pigmentary changes. Failure of DNA and RNA synthesis to recover after ultraviolet light exposure as well as selective loss of repair of transcriptionally active DNA may account for the ocular abnormality in this progeric syndrome.
 ...
PMID:Ocular findings in Cockayne syndrome. 144 19

The authors report four cases of the rarest form of the congenital fibrosis syndrome. This disorder is exhibited in infancy as unilateral blepharoptosis, strabismus, limited ductions, globe displacement (enophthalmos and blepharoptosis), and decreased vision, usually due to amblyopia. Forced ductions are positive and surgical exploration confirms anomalous muscle structure. Computed tomography and magnetic resonance imaging studies in these four patients were diagnostically beneficial, showing extraocular muscle and tendinous insertion involvement, and poorly defined intraconal and extraconal masses that had the appearance of scar or inflammatory tissue. All patients had globe displacement. The opposite eye and intracranial contents were normal in all of our patients. Results of histopathologic examination obtained at surgery in three of these patients show replacement of affected structures by fibrous tissue and included the extraocular muscles, orbital fat, Tenon's capsule, and conjunctiva.
 ...
PMID:Congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome. 156 46

Progressive facial hemiatrophy (Romberg's syndrome) is of unknown cause and uncertain pathogenesis. The main pathogenetic hypotheses are: sympathetic system alterations, localized scleroderma, trigeminal changes, possibly of genetic origin. To test the hypothesis of sympathetic system alterations, we designed an experimental model with ablation of the superior cervical sympathetic ganglion in rabbits, cats and dogs. All the animals were operated upon when 30 days old and were examined monthly for 1 year. During this period localized alopecia, corneal ulceration, keratitis, strabismus, enophthalmos, ocular atrophy, hemifacial atrophy and slight bone atrophy on the side of the sympathectomy were observed. Thus, cervical sympathectomy reproduces in animals the principal clinical alterations of Romberg's syndrome. Our data suggest that the sympathetic system is involved in the pathogenesis of this syndrome.
 ...
PMID:[Experimental study of progressive facial hemiatrophy: effects of cervical sympathectomy in animals]. 196 72

The present study reviews the long-term results of immediate reconstruction and primary grafting in 49 complex orbital fractures. The clinical features of these injuries are defined, and methods of investigation and surgical correction are outlined. The residual postoperative abnormalities, including enophthalmos, strabismus, and telecanthus, are critically analyzed. Recent modifications in fracture fixation, in orbital cavity reconstruction, and in the use of various types of autogenous grafts are discussed in detail.
 ...
PMID:Complex orbital fractures: a critical analysis of immediate bone graft reconstruction. 266 Jul 15

The frequency of extraocular muscle (EOM) or cranial nerve (CN) palsy as the sole cause of diplopia in orbital floor blow-out fractures has not been previously determined. Of 40 blow-out fracture patients studied prospectively, seven had motility disturbances consistent with palsy of one EOM or CN. All seven patients had negative forced ductions, making entrapment, edema, or orbital hemorrhage unlikely causes of diplopia. The diplopia resolved in four patients in 1 year. Persistent diplopia is a common indication for repair of such fractures. If, however, diplopia is due only to EOM or CN palsy, orbital surgery should be deferred (in the absence of significant enophthalmos) in favor of observation and/or later strabismus surgery.
 ...
PMID:The incidence of extraocular muscle and cranial nerve palsy in orbital floor blow-out fractures. 362 17

Six weeks after a traffic accident a patient presented with enophthalmos of 6 mm on the right side, a marked divergent squint, and double vision in all directions of gaze. CT scans showed a posterior medial, and inferior fracture of the orbit with tissue prolapse. In the course of surgery it became clear that an antral balloon alone would not be sufficient to push back the prolapsed tissue in the ethmoidal region. For this reason an additional, smaller (Lincoff-Kreissig) balloon was inflated in this region. The procedure was successful.
 ...
PMID:[Support of an unusual orbital fracture by 2 balloons]. 376 95

The authors present a case of a 15-year-old girl with Leber's congenital amaurosis with associated nephronophthisis. The main findings in this case are: congenital blindness; enophthalmos; photophobia; nystagmus; keratoconus; cataracts; pigmentary degeneration in the fundus of both eyes; progressive uremia with absence of hematuria, proteinuria, pyuria, and glycosuria; low urinary density, normal lipidic profile; osteoporosis; absence of edema; polydipsia; polyuria; and a history of consanguinity between her parents. Tranmission of this entity allows an autosomal recessive pattern.
J Pediatr Ophthalmol Strabismus
PMID:Leber's congenital amaurosis with associated nephronophthisis. 739 8

Cockayne's syndrome is a rare, autosomal recessive condition which usually presents in early childhood, and is characterised by dwarfism, premature ageing, mental retardation and a typical facial appearance and body habitus. Retinal dystrophy, enophthalmos, strabismus, cataract, nystagmus and corneal opacities are associated ocular features. At a genetic level, a defect occurs in the pathway for the repair of transcriptionally active DNA, and the most common form of Cockayne's is associated with mutations in the human repair gene ERCC6. These patients pose a difficult management problem. A significant proportion will require cataract extraction at an early age, which may present technical difficulties due to enophthalmos, which is a constant finding, poor pupillary dilation and growth retardation. Also, the fitting and assessment of aphakic contact lenses during the post-operative period requires great skill. General anaesthesia in these patients may be hazardous. In particular, difficulty with endotracheal intubation should be anticipated. Two patients with Cockayne's syndrome requiring bilateral cataract extraction in early infancy are presented. The problems associated with surgery, anaesthesia and subsequent follow-up in these mentally retarded infants are discussed.
 ...
PMID:Ophthalmic management of Cockayne's syndrome. 876 5


1 2 3 4 Next >>