1/38. 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.- - - - - - - - - - ranking = 1keywords = eye (Clic here for more details about this article) |
2/38. 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.- - - - - - - - - - ranking = 0.094230700669659keywords = ocular (Clic here for more details about this article) |
3/38. 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.- - - - - - - - - - ranking = 0.66666666666667keywords = eye (Clic here for more details about this article) |
4/38. 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.- - - - - - - - - - ranking = 0.4711535033483keywords = ocular (Clic here for more details about this article) |
5/38. 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.- - - - - - - - - - ranking = 0.094230700669659keywords = ocular (Clic here for more details about this article) |
6/38. 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.- - - - - - - - - - ranking = 0.76089736733633keywords = eye, ocular (Clic here for more details about this article) |
7/38. 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.- - - - - - - - - - ranking = 0.33333333333333keywords = eye (Clic here for more details about this article) |
8/38. Alveolar capillary dysplasia with misalignment of pulmonary veins and anterior segment dysgenesis of the eye: a report of a new association and review of the literature.The association of alveolar capillary dysplasia with misalignment of pulmonary veins (ACD-MPV) and ocular abnormalities has not been previously reported. We present a case of ACD-MPV and anterior segment dysgenesis of the eye in a full-term infant as well as a review of the relevant literature.- - - - - - - - - - ranking = 1.7608973673363keywords = eye, ocular (Clic here for more details about this article) |
9/38. Mystery of the vanishing iris.We present the first reported case of traumatic aniridia as an isolated injury after blunt trauma to an eye that had phacoemulsification through a corneal tunnel. This case provides insight into the properties of the self-sealing corneal tunnel and possible advantages that it may confer on the eye.- - - - - - - - - - ranking = 0.66666666666667keywords = eye (Clic here for more details about this article) |
10/38. Bilateral cataract surgery combined with implantation of a brown diaphragm intraocular lens after trabeculectomy for congenital aniridia.A 17-year-old male patient was referred for poorly controlled glaucoma on maximal medication, congenital aniridia, cataract, nystagmus, and hypoplasia of the macula. A bilateral filtering procedure was performed to control the glaucoma. Three months later, a slow motion phacoemulsification and implantation of a brown diaphragm intraocular lens (IOL) was attempted. Despite the presence of nystagmus and hypoplasia of the macula, the visual acuity improved from 20/300 to 20/100 in the right eye and from 20/400 to 20/150 in the left eye. Both aniridia IOLs were well centered, the anterior segment was quiet with normal intraocular pressure without medication, and all of the patient's glare symptoms disappeared. A single-piece iris diaphragm and optical lens offer a safe alternative for patients who previously had no viable options for iris reconstruction. The most serious postoperative problem, glaucoma, should be addressed before the cataract and lens implantation is performed to avoid a possible acceleration of the glaucoma progression by the large aniridia IOL.- - - - - - - - - - ranking = 1.2320508706846keywords = eye, ocular (Clic here for more details about this article) |
| | Next -> |