Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Since the first introduction of the capsular ring in 1991, the open capsular tension ring proved to be efficient in various indications and applications: e.g. in zonular dialysis or or weakness, with integrated tinted sector shield in sector or aniridia, to facilitate primary posterior capsulorhexis, for prophylaxis of intraocular lens decentration or as an intraocular measuring gauge. Nishi modified this capsular tension ring mainly by increasing the width to 0.7 mm and created a rectangular edge, thus facilitating the creation of a sharp, discontinuous bend in the equatorial capsule. This band-shaped, sharp-edged capsule-bending ring prevented the anterior capsule from coming into contact with the posterior capsule. This is most likely due to the 0.7 mm width of the capsule-bending ring, which significantly prevented anterior capsule opacification, which commonly occurs within one month postoperatively. Posterior capsule opacification seems to be reduced as well, but final evaluation is needed for a longer period of time. The capsular tension ring as well as the capsular bending ring enlarge our surgical options in modern cataract surgery. Both can be considered as a useful instrument and promising innovation.
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PMID:[Capsular bent ring. Improvement of the capsular tension ring]. 1009 59

The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia. The gene encodes a transcriptional regulator that recognizes target genes through its paired-type DNA-binding domain. The paired domain is composed of two distinct DNA-binding subdomains, the N-terminal subdomain (NTS) and the C-terminal subdomain (CTS), which bind respective consensus DNA sequences. The human PAX6 gene produces two alternative splice isoforms that have the distinct structure of the paired domain. The insertion, into the NTS, of 14 additional amino acids encoded by exon 5a abolishes the DNA-binding activity of the NTS and unmasks the DNA-binding ability of the CTS. Thus, exon 5a appears to function as a molecular switch that specifies target genes. We ascertained a novel missense mutation in four pedigrees with Peters anomaly, congenital cataract, Axenfeldt anomaly, and/or foveal hypoplasia, which, to our knowledge, is the first mutation identified in the splice-variant region. A T-->A transition at the 20th nucleotide position of exon 5a results in a Val-->Asp (GTC-->GAC) substitution at the 7th codon of the alternative splice region. Functional analyses demonstrated that the V54D mutation slightly increased NTS binding and decreased CTS transactivation activity to almost half.
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PMID:Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. 1044 71

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.
J Cataract Refract Surg 1999 Nov
PMID:Cataract surgery combined with implantation of an artificial iris. 1210 8

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.
J Cataract Refract Surg 1999 Nov
PMID:Black iris-diaphragm intraocular lens for aniridia and aphakia. 1210 8

Anterior segment dysgenesis syndrome occurs frequently in Rocky Mountain horses and has two distinct ocular phenotypes: (1) large cysts originating from the temporal ciliary body or peripheral retina and (2) multiple anterior segment anomalies including ciliary cysts, iris hypoplasia, iridocorneal adhesions and opacification, nuclear cataract, and megalocornea. To determine if anterior segment dysgenesis syndrome is heritable in horses we performed ophthalmic examinations and collected pedigree information on horses (n = 516) in an extended Rocky Mountain horse pedigree. Logistic regressive segregation analysis of a subset of animals (n = 337) in which the ocular phenotypes of progeny and both parents were known indicated that the codominant inheritance model best fit the data. This model predicted cyst phenotype expression in heterozygous animals and multiple anterior segment anomalies in homozygous animals. Several cases of nonpenetrance of the cyst phenotype were detected in one lineage. The close resemblance between the inheritance and lesions observed in Small eye mice and rats, humans with congenital aniridia or anterior segment malformation, and horses with anterior segment dysgenesis syndrome supported the conclusion that anterior segment dysgenesis syndrome in the horse may be homologous to similar ophthalmic anomalies in other species.
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PMID:The horse homolog of congenital aniridia conforms to codominant inheritance. 1076 20

Originally, the open poly(methyl methacrylate) (PMMA) capsular tension ring (CTR) was designed to compensate for zonular defects or to stretch the posterior capsule in highly myopic eyes not receiving an intraocular lens (IOL). We address the variety of subsequent designs, applications, and techniques that have evolved. With pre-existing or intraoperative zonular defects, a standard CTR may be inserted before or at any time during cataract removal to maintain or re-establish an extended capsular diaphragm. For profound zonular dialysis or weakness, a CTR was designed for scleral fixation. Capsular tension rings with integrated tinted sector shields have been developed to compensate for sector iris colobomas or aniridia. The CTR has also been used as a measuring gauge for in vivo quantification of capsule dimensions and postoperative capsular shrinkage. The CTR has improved control during primary posterior capsulorhexis and prevented oval distortion along the lens axis postoperatively. During combined cataract and vitreous surgery, a CTR prevents capsule damage and provides undisturbed peripheral visualization before IOL implantation. Capsular tension rings may also influence capsule opacification formation. A special band-shaped CTR with sharp edges was developed to inhibit lens epithelial cell migration and avoid capsulorhexis-optic contact.
J Cataract Refract Surg 2000 Jun
PMID:The capsular tension ring: designs, applications, and techniques. 1210 9

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.
J Cataract Refract Surg 2000 Sep
PMID:Corneal laceration with total but isolated aniridia caused by a pecking injury. 1102 Jun 31

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.
J Cataract Refract Surg 2002 Jan
PMID:Mystery of the vanishing iris. 1203 10

Aniridia is a congenital developmental anomaly of the eye that usually affects both eyes. The development of the iris, cornea, lens, angle, optic nerve and retina is disturbed. Aniridia is most often a hereditary disease with an autosomal dominant, rarely autosomal recessive inheritance, but sporadic cases are also possible. The vision function in aniridia has been observed to have a wide range from blindness to a normal visual acuity. The more serious cases where blindness occurs has been due not specifically to the aniridia but to associated conditions like cataract, glaucoma, foveal hypoplasia, corneal dystrophy, nystagmus. Aniridia could be associated with the mental retardation. Some of the sporadic cases develop Wilms' tumor, frequently as part of the WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation).
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PMID:[Aniridia]. 1208 63

The PAX6 mutation present in an individual with aniridia was determined and phenotypic features of immediate relatives carrying the same mutation investigated. Mutation analysis revealed a novel single base deletion 1410delC in the PAX6 gene in ten affected individuals. Clinical features ranged from total aniridia to very mild anterior segment findings. Other findings included partial aniridia, iris stromal hypoplasia, keratitis, cataract, glaucoma, optic disc anomalies and foveal hypoplasia. It appears that independent modifying factors may underlie the variability of the different phenotypic features of the PAX6 mutation.
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PMID:Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene. 1232 30


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