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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Congenital iris ectropion and a new classification for anterior segment dysgenesis. 232 18

Two cases of unilateral ectropion uveae with ipsilateral juvenile glaucoma are reported including one with ipsilateral ptosis. This rare, non progressive anomaly, is characterized by the presence of iris pigment epithelium on the anterior surface of iris stroma, quite often associated with neurofibromatosis, ipsilateral ptosis or Rieger's syndrome. Congenital or juvenile glaucoma is almost systematically associated with the condition and must be evaluated and treated. Pathogeny of the anomaly has to be interpreted keeping in mind the concept of neurocristopathy, i.e. developmental anomalies of neural crest origin tissues.
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PMID:[Congenital ectropion of the iris epithelium and glaucoma]. 393 68

Congenital ectropion uveae is a rare condition which may be present in one or both eyes. If the patient is followed glaucoma will always be found to be present. Associated features which have been described are ptosis, Rieger's anomaly, Prader Willi syndrome, facial hemiatrophy and neurofibromatosis. This paper describes a patient followed for 18 years who had bilateral congenital ectropion uveae, bilateral ptosis, asthma and late onset of a dental defect.
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PMID:Congenital ectropion uveae and glaucoma. 401 78

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

We report on the clinical, molecular and biochemical findings of a patient with the rare event (<4.02 x 10(-9) per generation) of coinciding de novo mutations in the nuclear PAX6 (c.1252-1267del16) and the mitochondrial mt.RNA (Lys) (8347A-->G) genes. The boy suffers from exercise intolerance, ptosis, nystagmus, macular hypoplasia and anterior segment abnormalities evocative of Axenfeld-Rieger anomaly. The PAX6 mutation is predicted to cause haploinsufficiency. The novel mt.RNA (Lys) mutation is located close to the classic myoclonic epilepsy with ragged-red-fibers mutation, but the patient exhibits neither myoclonic epilepsy nor ragged-red-fibers. The degree of mutant mtDNA heteroplasmy, as determined by a very accurate pyrosequencing assay, varies between 31% (muscle) and 38% (fibroblasts). We discuss a potential effect of the PAX6 mutation on the mtDNA mutation rate.
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PMID:De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease. 1703 79