Cases reported "aniridia"

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1/74. Psychiatric disorder and cognitive function in a family with an inherited novel mutation of the developmental control gene PAX6.

    The PAX family of developmental control genes are known to play important roles in the early patterning of the central nervous system. One member of this family, PAX6, is involved in eye development in invertebrates as well as in mouse and man, but is also widely expressed in the developing forebrain. humans with a mutation in this gene have abnormalities of eye development, and the results presented here suggest, for the first time, that this mutation may also be associated with subtle abnormalities of frontal lobe function in the family studied. We carried out genotyping of individuals within a single family, with and without the characteristic eye abnormalities of PAX6 mutation, and only those individuals with the mutation showed significant abnormalities on tests of frontal lobe function. These individuals also had higher rates of psychiatric disorder. PAX6 is highly conserved between mouse and man, and although the neuroanatomical phenotype associated with PAX6 heterozygosity has only been studied in mice, the resultant cellular disorganization seen in mice is likely to be present in the human forebrain. Although these mice have no obvious behavioural phenotype, the results presented here suggest that humans with the equivalent mutation display a neurobehavioural phenotype. ( info)

2/74. Intrarenal pelvic papillary Wilms' tumor associated with aniridia: a case report.

    BACKGROUND: Intrarenal pelvic Wilms' tumor in a papillary growth is rare in children. A case of a two-year-old infant with Wilms' tumor associated with congenital aniridia is reported. RESULTS: A chromosomal abnormality (11p13 deletion) was found in this patient. The tumor was well evaluated by ultrasonography, computed tomography and magnetic resonance imaging. DISCUSSION: Previous case reports are briefly reviewed and the clinical characteristics disclosed. ( info)

3/74. Treatment of traumatic cyclodialysis with vitrectomy, cryotherapy, and gas endotamponade.

    An aphakic patient with severe chronic hypotony had an alternative treatment of a traumatic cyclodialysis cleft: a 3-port pars plana vitrectomy, cryotherapy of the cleft, and fluid-gas exchange with subsequent supine positioning. The therapeutic principle was mechanical apposition of the detached ciliary muscle to the scleral spur by the gas bubble and scar induction by cryotherapy. intraocular pressure increased to within normal ranges, and visual acuity improved over a 15 month follow-up. ( info)

4/74. Cataract surgery combined with implantation of an artificial iris.

    We describe 6 patients who presented with cataract or aphakia and absent or nonfunctional irides. The etiologies included congenital aniridia, traumatic iris loss, and chronic mydriasis secondary to recurrent herpetic uveitis. In 5 eyes, a prosthetic iris was successfully implanted in combination with small incision cataract surgery. In 2 eyes, a single-piece iris diaphragm and optical lens was implanted. Artificial irides offer a safe alternative for patients who previously had no viable options for iris reconstruction. ( info)

5/74. Black iris-diaphragm intraocular lens for aniridia and aphakia.

    We present the first reported use in the united states of a black iris-diaphragm intraocular lens (IOL) for the treatment of traumatic aniridia and aphakic bullous keratopathy. The patient presented to a university-based practice with contact-lens-intolerant aniridia and aphakia with painful bullous keratopathy from a failed corneal graft. He was treated with combined penetrating keratoplasty and transscleral fixation of an aniridia IOL. The patient's preoperative symptoms of debilitating glare and photophobia resolved substantially after surgery, despite mild postoperative inflammation that resolved. The symptoms associated with aniridia can be successfully treated with a black iris-diaphragm IOL; however, chronic low-grade inflammation has been reported with its use in some cases. ( info)

6/74. A novel PAX6 frameshift mutation in a kindred from Atlantic canada with familial aniridia.

    BACKGROUND: Many mutations in PAX6, a member of a family of genes essential for normal development, have been described. We carried out a study to identify the mutation in PAX6 responsible for aniridia, an autosomal dominant disorder, in a kindred from Atlantic canada. methods: polymerase chain reaction amplification of coding exons, single-strand conformation polymorphism analysis and dna sequencing. RESULTS: A novel deletion of an adenosine residue at position 1030 (1030delA) was detected. INTERPRETATION: The mutation responsible for aniridia in this kindred is expected to cause a frameshift in the PAX6 coding sequence and truncation of the homeodomain, which is essential for the function of the pax6 protein. ( info)

7/74. Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature.

    PURPOSE: To identify PAX6 mutations in patients from four Japanese families with aniridia. methods: polymerase chain reaction (PCR)-single stand conformational polymorphism (SSCP) analysis (SSCA) was performed in probands of the families, and restriction analysis using MaeIII or AvaI was carried out in other affected family members. RESULTS: PCR-SSCA demonstrated in the proband from one family an extra-band in the PCR product for PAX6 exon 8. Base sequence analysis revealed that the patient is a heterozygote for a C to T transition mutation at codon 203. DNAs from the patient and another affected member in the same family were cut with MaeIII into two fragments, while non-affected members in the family showed only one MaeIII fragment, the result confirmed the mutation. In another family, PCR-SSCA revealed an extra-band in the PCR product for exon 9. Sequencing detected a C-->T substitution at codon 240 in the patient, the mutation resulted in loss of an AvaI site. AvaI cleavage analysis confirmed the mutation in the patient. The two transition mutations observed in the two families also predict the conversion of arginine to a stop codon (R203X and R240X, respectively) around the homeodomain (HD), leading to the truncation of the PAX6 protein within its glycine-rich region. No abnormal SSCP bands or abnormal restriction fragments were detected in patients from the other two families. CONCLUSIONS: The two mutations sites identified in the two families, one at codon 203 and the other at codon 240, are those most frequently observed among 118 previously reported PAX6 mutations. This indicates that the two mutations are two hot-spots in the gene. ( info)

8/74. A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.

    BACKGROUND: A variety of PAX6 gene mutations were identified in patients with aniridia and/or allied ocular dysgenesis such as keratopathy, Peters' anomaly, foveal hypoplasia, and nystagmus. To scrutinize the etiology of a four-generation Japanese family with autosomal dominant nystagmus associated with anterior and posterior segment anomalies, the PAX6 gene was examined. patients AND methods: A Japanese family showed a variant aniridia phenotype in four successive generations. Affected individuals had congenital nystagmus, microcornea with shortened axial length, superficial peripheral corneal opacification with pannus formation, dislocated pupil, and foveal hypoplasia. Analysis of the PAX6 gene mutation was performed in affected and unaffected individuals. RESULTS: A novel missense mutation in the PAX6 gene was found in all affected individuals examined, but neither in unaffected individuals nor in unrelated healthy individuals. This mutation predicted a proline to arginine change at codon 118 (P118R) in the paired domain of PAX6 protein. CONCLUSION: The reported family illustrates that mutations in the PAX6 gene, in particular missense mutations, may manifest atypical clinical expression or forme fruste of aniridia. ( info)

9/74. Corneal laceration with total but isolated aniridia caused by a pecking injury.

    A 38-year-old man sustained a left eye injury after being attacked by a mynah bird. Ocular examination revealed a beak-shaped, full-thickness corneal laceration with total aniridia in the left eye. No other ocular injury was observed, and the lens and posterior segment remained normal over the subsequent 3 months. A penetrating keratoplasty was planned for visual restoration. ( info)

10/74. Traumatic wound dehiscence following cataract surgery: a thing of the past?

    PURPOSE: This study compares the frequencies of traumatic wound dehiscence following extracapsular cataract extraction (ECCE) and following phacoemulsification through a self-sealing corneoscleral tunnel. methods: A retrospective review was performed of the surgical record at a British eye hospital from September 1986 to August 1993 and January 1996 to December 1998. Cases requiring surgical repair of wound dehiscence following cataract extraction were identified. The frequencies of traumatic wound dehiscence following ECCE and phacoemulsification were compared using a two by two contingency table (chi-square test). RESULTS: Twenty-one cases of traumatic wound dehiscence were identified following 5,600 ECCEs (0.4%). In 4,200 phacoemulsification procedures only one case of traumatic wound dehiscence was identified (0.02%) (p = 0.0006, OR 15.8, chi2 = 11.69). CONCLUSION: phacoemulsification through a self-sealing corneoscleral tunnel is associated with significantly less risk of traumatic wound dehiscence than is extracapsular cataract extraction. The case of wound rupture following phacoemulsification is discussed with reference to a mechanism for the injury. ( info)
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