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

An 11-year-old female manifested bilateral prominent Schwalbe's line, iridal adhesions, displaced and irregular pupils. She had no evidence of juvenile glaucoma. The major nonocular finding in this patient was the congenital absence of her primary and permanent maxillary central and lateral incisors. Although missing or malformed teeth may occur in other conditions such as Down's syndrome, focal dermal hypoplasia syndrome, anhidrotic ectodermal dysplasia, chondroectodermal dysplasia, and incontinentia pigmenti, the clinician should include Rieger's syndrome in his differential diagnosis in patients with oligodontia in combination with malformation of the anterior chamber of the eye. Rieger's syndrome is a rare condition characterized by ocular and dental abnormalities, namely mesoectodermal dysgenesis of the iris and cornea of the eyes and hypodontia of the dentition. This report presents a sporadic case of Rieger's syndrome in an 11-year-old female and discusses the pertinent clinical features of this condition.
J Pediatr Ophthalmol Strabismus
PMID:Rieger's syndrome: (oligodontia and primary mesodermal dysgenesis of the iris) clinical features and report of an isolated case. 10 18

We observed a pericentric inversion of chromosome 6 in three generations of one family. Carriers had several phenotypic alterations including congenital cataracts, hearing loss, dental anomalies, ear anomalies, premature graying, unilateral strabismus, coloboma, and mild mental retardation. These manifestations may all be explained by a failure or delay in development of tissues derived from neural crest cells and are similar to these seen in the Rieger syndrome. The description of this family extends the known phenotypic abnormalities associated with alterations of chromosome 6.
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PMID:Unique phenotype associated with a pericentric inversion of chromosome 6 in three generations. 186 52

Congenital iris ectropion has recently been added to the spectrum of neural-crest-derived anterior segment dysgenesis syndromes. Major features include a nonprogressive ectropion of the iris pigment epithelium, a glassy smooth cryptless iris surface, a high iris insertion, dysgenesis of the drainage angle, glaucoma, and in many cases, ipsilateral ptosis. Anterior segment dysgenesis syndromes have been subdivided into disorders of neural crest cell migration, proliferation, or differentiation. The congenital iris ectropion syndrome does not clearly fit into this classification. A new classification based on a theory of developmental arrest is presented which is more consistent with current knowledge of embryologic development and with recent clinical and histopathologic findings. The new classification links the congenital iris ectropion syndrome with the Axenfeld-Rieger spectrum but separates it from classic congenital glaucoma and the irido-corneal endothelial (ICE) syndromes. In addition, a histopathologically-supported etiologic theory for congenital iris ectropion is presented that supports the new classification.
J Pediatr Ophthalmol Strabismus
PMID:Congenital iris ectropion and a new classification for anterior segment dysgenesis. 232 18

The Rieger syndrome, characterized by a prominent Schwalbe line, iris strands to the cornea, iris hypoplasia, dental abnormalities, facial malformations, and umbilical defects, is inherited in an autosomal dominant pattern. We studied a boy with the ocular features of the Rieger syndrome, micrognathia, and redundancy of the periumbilical skin. Chromosome analysis revealed an interstitial deletion of the long arm of chromosome 13 involving the distal region of band q14 through band q31. As there was a previous report of the Rieger syndrome in a child with an interstitial deletion of chromosome 13 (q12,q22), we suggest that a gene for this disorder may be located in the segment q14 to q22.
J Pediatr Ophthalmol Strabismus
PMID:The Rieger syndrome and a chromosome 13 deletion. 311 99

This paper discusses the characteristic features of 'morning glory' syndrome, observed in 49 patients, described in the literature and in three personal observations. 'Morning glory' syndrome is frequently associated with strabismus (20/49 patients), non-rhegmatogenous retinal detachment (13/56 eyes) or remnants of the hyaloid system (10/56 eyes). Association with basal encephalocele has been encountered three times. The 'morning glory' syndrome usually affects only one eye, although four bilateral cases have been described. The family history was negative, except in the cases discussed by Handmann (1929) and by Rieger (1977), where father and son presented the optic disc anomaly. In Rieger's family there was also familial renal hypoplasia. Morning glory syndrome is not to be considered as a true coloboma, but rather as a posterior ectasia, due to disturbance in the development of the sclera.
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PMID:The 'morning glory' syndrome. 393 11

Four infants were referred for congenital unilateral corectopia. In each case, the abnormal position of the pupil was caused by a fibrous structure that tethered the iris pupillary margin to the peripheral cornea. No patients showed characteristics of intrauterine infection, Rieger anomaly, ectopia lentis et pupillae, or iris coloboma. Amblyopia was not present in any of the patients. Three children demonstrated progression of the corectopia in the first 6 months of life. Two who developed shallow anterior chambers were treated surgically, one with an Nd:YAG laser and the other with incisional surgery. The third was treated with medical mydriasis. All four children have had favorable visual outcomes to date. The origin of the tethering strands is unclear but may be related to incomplete regression of vessels from the embryologic vascular system. We recommend medical or surgical intervention for unilateral corectopia when the pupillary aperture is displaced peripheral to the central visual axis or when the position of the iris threatens angle structures. Prophylactic occlusion therapy may also be indicated.
J Pediatr Ophthalmol Strabismus
PMID:Idiopathic tractional corectopia. 771 3

One hundred and fifty-two patients with the Williams-Beuren syndrome were examined to assess the frequency and severity of ophthalmological features associated with the disorder. Eighty-two (54%) had strabismus, all but three, esotropia. One hundred and seventeen (77%) patients had blue irides, 10 (7%) green, and 25 (16%) brown. One hundred and twelve (74%) showed a typical so-called stellate iris pattern of the anterior stroma. Whitish anomalies were also detectable in brown irides. Two 9-year-old patients and one 46-year-old patient had initial cataract. Of all the patients with funduscopy, 22% had retinal vascular tortuosity. One patient had suspected Rieger syndrome. Two patients had ptosis, one with a Marcus-Gunn phenomenon. No ocular manifestation of hypercalcaemia was noted.
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PMID:The spectrum of ocular features in the Williams-Beuren syndrome. 872 68

Rieger's anomaly is characterized by a dysgenesis of the anterior ocular segment with peripheral iris strands, an abnormally prominent Schwalbe's line, and a stromal atrophy of the iris. Refractory secondary glaucoma frequently demands surgical intervention with an uncertain prognosis. The charts of 15 patients with Rieger's anomaly (11 male, 4 female; mean age 21 years) were reviewed with regard to surgical management and postoperative intraocular pressure (IOP). Micro-/sclerocornea, keratoglobus, and keratopathy, micro-/buphthalmia, glaucoma, cataract, spherophakia, retinal detachment, papillary drusen, strabismus, and amblyopia were found associated with Rieger's anomaly. Secondary glaucoma required glaucoma surgery in 12 patients. Trabeculectomy (with or without mitomycin) and cyclodestructive surgery (cyclocryotherapy or cyclophotocoagulation) yielded IOP regulation in 50% of the treated eyes at a follow-up of 1 year. Cyclodestructive interventions displayed a very limited prognosis in eyes with preoperative maximal IOP values of > 45 mmHg. An obvious decline in visual acuity was observed in all patients, depending on the duration of glaucoma.
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PMID:Outcome of anterior-segment surgery in Rieger's anomaly. 947 33

Three siblings with ectopia lentis were examined for associated abnormalities. Case 1 had Axenfeld-Rieger anomaly and retinal detachment. Case 2 had Axenfeld-Rieger anomaly, ciliary staphyloma, and glaucoma. Case 3 had no associated ocular abnormality. The parents had normal eyesight. This is the first report of ectopia lentis associated with Axenfeld-Rieger anomaly. The mode of inheritance is likely autosomal recessive.
J Pediatr Ophthalmol Strabismus
PMID:Familial ectopia lentis with Axenfeld-Rieger anomaly. 1727 42