Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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

To investigate the occurrence and management of late-onset iris prolapse through the surgical wound after nonpenetrating deep sclerectomy. Two cases of iris prolapse that presented 8 and 10 months, respectively, after surgery for glaucoma were reviewed. One of the cases was associated with mild trauma. The postoperative follow-up was 5 and 24 months, respectively. The iris tissue bulge did not progress and there were no other complications. The visual acuity was not affected and the intraocular pressure was controlled with medical therapy. These cases demonstrate that the eye is weaker than normal at the surgical site after nonpenetrating deep sclerectomy, allowing iris protrusion. Iris prolapse should be added to the list of late postoperative complications of nonpenetrating deep sclerectomy.
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PMID:Iris prolapse at the surgical site: a late complication of nonpenetrating deep sclerectomy. 1266 29

The personal author's experiences has been presented, with regards to the early discovering and adequate preventing of ophthalmology diseases at prematurely born children. Thanks to the development of perinatology, almost every organ can be monitored and functionally examined even before the child is born. Despite all problems, the work of ophthalmo-paediatritians is extremely challenging, because that is the only situation in which embryology of the eye can be seen "In Vitro" and in which the physiological development of the eye's function can been monitored. During the period from 1999 to 2002, it was examined 66 children in total, who had an anamnestical data about prematurity, as well as the data about delivery-weight. Out of these 66 children, there were 40 (60.6%) boys and 26 (39.4%) girls, with 1-4 of age. All children were examined by usual, in daily work available, examination methods. The biggest percentage of children (80%) were sent to us by the paediatritian-neonathologist, and 20% war sent from the Primary Health Care centers, or they were sent from other centers. At 52 (78.7%) of children, the certain changes on the eyes were found, while at 10 (15.1%) children no changes at all were found. At 4 (6.2%) cases, we found minor changes, but we monitored those children as well. Ophthalmology changes were found in almost all forms, from the most complicated (ROP, coloboma horioretinae, congenital glaucoma, congenital cataract), to the simpler ones on which are less difficult to treat (refraction changes, amblyopia, strabismus, ptosis etc). Since these changes are still present with prematuruses, it is necessary to intensively monitor this population, as a part of the multidisciplinary team, made of the experts of the different profiles (paediatritian-neonatologist, otologist, logopedist, ophthalmologist, etc), and which would be possible through the Register of Prematurity. Author introduces her own experience of ophthalmologic diseases in children who are categorized as "risky". A team of different specialists does treatment.
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PMID:[Pathologic ophthalmologic changes in prematurity]. 1276 53

This retrospective case series describes ocular side-effects associated with imatinib mesylate (Gleevec) and the clinical characteristics of these adverse reactions. A chart review of 104 patients on imatinib mesylate therapy from Oregon Health & Science University's Cancer Center were studied with regard to ocular side-effects. In addition, spontaneous reports from the Food and Drug Administration, the World Health Organization, and the National Registry of Drug-Induced Ocular Side-Effects databases were reviewed, including a Medline literature search. Seventy-three (70%) of the patients at OHSU developed periorbital edema and 19 patients (18%) developed epiphora after receiving imatinib mesylate. Average dose was 407.5+/-60 mg. Periorbital edema occurred an average of 68+/-48 days after initiation of therapy. WHO classification of side-effects is as follows: certain: periorbital edema; probable: epiphora; possible: extraocular muscle palsy, ptosis, blepharoconjunctivitis; unlikely: glaucoma, papilledema, retinal hemorrhage, photosensitivity, abnormal vision, and increased intraocular pressure. Periorbital edema and epiphora are the two most common ocular side-effects related to imatinib mesylate therapy. Clinical characteristics of imatinib mesylate induced periorbital edema are described. Management of ocular side-effects is conservative except in very rare cases of visually significant periorbital edema.
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PMID:Ocular side-effects associated with imatinib mesylate (Gleevec). 1296 61

We report the second known case of acute angle-closure glaucoma from vitreous prolapse after neodymium:YAG (Nd:YAG) laser posterior capsulotomy in a patient with a posterior chamber intraocular lens (IOL). This is the first reported case to result in corneal decompensation that required penetrating keratoplasty. The rare complication of vitreous prolapse was unusual in this patient because of the presence of a posterior chamber IOL, a small 4.0 mm capsulotomy opening, and low (26 mJ) Nd:YAG laser energy.
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PMID:Acute angle-closure glaucoma caused by vitreous prolapse after neodymium:YAG posterior capsulotomy. 1551 6

Blunt ocular traumas include contusions and ruptures of the globe--open and closed globe injuries. Characteristic damage results in anterior and posterior segment trauma. Typical patterns of injuries are combinations of (1) hyphema grade II-IV, iris-lens injury, vitreal bleeding--choroidal rupture and increased risk of rebleeding, (2) angle recession >180 degrees--secondary open-angle glaucoma, and (3) vitreal prolapse and lens dislocation-retinal detachment. Patients with blunt eye trauma should be under steady observation by an ophthalmologist to handle late complications.
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PMID:[Blunt ocular trauma. Part I: blunt anterior segment trauma]. 1559 49

We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptosis, posterior embryotoxon, optic nerve abnormalities, mild glaucoma, Dandy-Walker malformation, hydrocephalus, atrial septal defect, patent ductus arteriosus, and mild mental retardation. There is considerable clinical overlap between these children and individuals with the Ritscher-Schinzel (or cranio-cerebello-cardiac (3C)) syndrome (OMIM #220210). Clinical features of 3C syndrome include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects). Since the original report, over 25 patients with 3C syndrome have been reported. Recessive inheritance has been postulated based on recurrence in siblings born to unaffected parents and parental consanguinity in two familial cases. Molecular and cytogenetic mapping of the 6p deletions in these three families with subtelomeric deletions of chromosome 6p have defined a 1.3 Mb minimally deleted critical region. To determine if 6p deletions are common in 3C syndrome, we analyzed seven unrelated individuals with 3C syndrome for deletions of this region. Three forkhead genes (FOXF1 and FOXQ1 from within the critical region, and FOXC1 proximal to this region) were evaluated as potential candidate disease genes for this disorder. No deletions or disease-causing mutations were identified.
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PMID:Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. 1570 24

Aniridia usually occurs in isolation, but may also occur as part of the WAGR contiguous gene deletion syndrome, which includes Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. The aniridia and predisposition for Wilms tumor seen in WAGR are caused by haploinsufficiency for PAX 6 and WT1, respectively. We present a female infant with aniridia, bilateral ptosis, bilateral posterior capsular cataracts, nystagmus, left-sided glaucoma, microcephaly, mild unilateral hydronephrosis, poor linear growth, and gross motor delay consistent with a clinical diagnosis of WAGR syndrome. In addition, weight-for-height ratio at 12 months is at the 94th centile, raising the possibility of a diagnosis of WAGRO (WAGR + Obesity). Chromosome analysis revealed a translocation (11;15)(p13;p11.2) which has not been previously associated with a diagnosis of WAGR. Subsequent clinical WAGR fluorescent in situ hybridization (FISH) analysis demonstrated a deletion of 11p13 including PAX6 and WT1. A complete FISH-mapping of the breakpoints on chromosome 11 revealed a 7 Mb deletion within 11p13-11p14. The patient is examined in light of other reported patients with deletions and/or translocations involving the regions between 11p12 --> 11p14 including patients with WAGR + obesity (WAGRO) as well as with other reported patients with aniridia and congenital ptosis.
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PMID:WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH. 1664 34

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with highly variable expression generally ascribed to random factors. However, evidence is presented for patterns suggesting non-stochastic processes as follows: (1) We have seen a MZ twin pair concordant for renal vascular hypertension, and another for unilateral ptosis. Other concordances have been reported, including both malformations and tumors, and combinations as well. (2) Four children were seen with a distinct ipsilateral association of glaucoma or iris anomaly, optic glioma, plexiform neurofibromas arising from the trigeminal nerve and its branches, and sphenoid dysplasia. Other cases in the literature support milder forms of this association. (3) We saw six children with apparent gynecomastia or premature thelarche without endocrine abnormalities. Tissue samples from four of these showed an unusual fibrous plexiform neurofibroma. Interestingly, five of the six cases were African Americans, and constitutional factors affecting fibrous reactions may also be involved here.A tentative hypothesis is presented suggesting vascular fields involving defined areas that can: (1) Support tumor growth. They would be the "soil" determining the ability and the extent of growth. There would, however, still be a need for a "second hit" tumor transformation. (2) Affect blood supply to organs, creating structural anomalies. NF1 involves a vasculopathy, and would predispose to vulnerabilities of such fields. Genetic factors could induce superimposed susceptibilities of specific fields, leading to twin concordances. "Hits" affecting specific fields would increase the likelihood of multiple abnormalities that could include both tumors and structural findings. Finally, tumors may follow the contours of existing fields. The breast is an area normally primed for growth, and the observation of clitoromegally secondary to tumor involvement suggests that such fields exist elsewhere.
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PMID:Non-random associations and vascular fields in neurofibromatosis 1: a pathogenetic hypothesis. 1677 Aug 9

Acute angle-closure glaucoma due to vitreous prolapse immediately following neodymium:YAG (Nd:YAG) laser posterior capsulotomy in eyes with posterior chamber intraocular lens implants is rare. Previously described cases were associated with advanced age, excessive amounts of laser energy, and a large-diameter capsular opening. The authors describe a case of acute angle-closure glaucoma occurring 21 days after Nd:YAG laser posterior capsulotomy in a young patient with a small-diameter capsule opening and a small amount of laser energy to stress the importance of close extended follow-up even in eyes with a theoretical low risk for this complication
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PMID:Late onset of acute angle-closure glaucoma following neodymium:YAG laser posterior capsulotomy. 1727 37

Aniridia consists in a congenital absence of the iris, with incidence varying from 1/64,000 to 1/96,000. This complex embryologic malformation involves the iris, trabecula, and cornea with limbal stem cell deficiency. Aniridia is a genetic haplo-insufficiency expression of the PAX6 gene located on chromosome 11p13. The associated clinical ocular signs could be congenital cataract, congenital glaucoma (the most common complication), keratopathy, ptosis, nystagmus, foveal aplasia, or microphthalmia. More than half of aniridic patients will develop glaucoma, so a regular complete tensional check-up is recommended. Central pachymetry is thicker than in the general population and overestimates ocular pressure if a corrective coefficient is not used. When glaucoma is diagnosed, medical or surgical treatment should be adapted to the child's age. In younger children, trabeculotomy is preferable to trabeculectomy in the first step if the cornea is clear enough. In older children or teenagers, a classical medical treatment must be initiated first, but surgical treatment will often be needed later. Trabeculectomy is the surgical procedure to choose for these older patients or can be combined with cataract surgery in adults. In severe glaucoma, after failure of trabeculectomy with or without mitomycin C, glaucoma surgery with drainage placement could be necessary to control ocular pressure and preserve vision. The outcome of glaucoma in aniridia is always severe and requires medical and surgical treatment adapted from infancy to adulthood.
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PMID:[Glaucoma in aniridia]. 1731 8


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