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)

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

Blunt trauma is usually associated with severe ocular damage particularly in eyes following cataract surgery. Small, self-sealing incision cataract surgery is changing the pattern of presentation of such cases, with relatively favorable outcomes. We describe a case of blunt trauma following phacoemulsification leading to aniridia.
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PMID:Traumatic expulsive aniridia after phacoemulsification. 1745 49

Traumatic aniridia and aphakia occurred in the left eye of a 22-year-old man who had had Artisan (Ophtec) phakic intraocular lens (IOL) implantation. Aniridia was probably the result of the relatively large wound used to implant the nonfoldable IOL. Although the eye had severe traumatic damage, vision was recoverable through a 2-stage procedure of vitrectomy and subsequent scleral suture fixation of an iris-diaphragm IOL.
J Cataract Refract Surg 2007 Jul
PMID:Traumatic aniridia and aphakia after Artisan intraocular lens implantation. 1758

We describe a rare case of familial partial aniridia with high myopia and Bergmeister papilla in five members of a family. Cataract surgery was performed on the proband wherein a brown black spherophakic lens was extracted.
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PMID:Inherited partial aniridia, microcornea with high myopia and Bergmeister's papilla: a new phenotypic expression. 1829 26

Aniridia is a rare panocular disorder affecting the cornea, anterior chamber, iris, lens, retina, macula and optic nerve. It occurs because of mutations in PAX6 on band p13 of chromosome 11. It is associated with a number of syndromes, including Wilm's tumour, bilateral sporadic aniridia, genitourinary abnormalities and mental retardation (WAGR) syndrome. PAX6 mutations result in alterations in corneal cytokeratin expression, cell adhesion and glycoconjugate expression. This, in addition to stem-cell deficiency, results in a fragile cornea and aniridia-associated keratopathy (AAK). It also results in abnormalities in the differentiation of the angle, resulting in glaucoma. Glaucoma may also develop as a result of progressive angle closure from synechiae. There is cataract development, and this is associated with a fragile lens capsule. The iris is deficient. The optic nerve and fovea are hypoplastic, and the retina may be prone to detachment. Aniridia is a profibrotic disorder, and as a result many interventions--including penetrating keratoplasty and filtration surgery--fail. The Boston keratoprosthesis may provide a more effective approach in the management of AAK. Guarded filtration surgery appears to be effective in glaucoma. Despite our increasing understanding of the genetics and pathology of this condition, effective treatment remains elusive.
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PMID:Aniridia: current pathology and management. 1893 25

WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face. Cytogenetic analysis showed a deletion on 11p that was further characterized using FISH and MLPA analyses. The deletion (11p13-p12) located in the area between the deletions associated with the WAGR and Potocki-Shaffer syndromes had a maximum size of 8.5 Mb and encompasses 44 genes. Deletion of WT1 explains the genital abnormalities observed. As PAX6 was intact the cataract observed cannot be explained by a deletion of this gene. Seizures have been described in Potocki-Shaffer syndrome while mental retardation has been described in both WAGR and Potocki-Shaffer syndrome. Characterization of this patient contributes further to elucidate the function of the genes in the 11p14-p12 chromosome region.
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PMID:11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report. 1922 35

We report a case of a 30-year-old woman with aniridia who developed a traumatic cataract related to placement of an Ex-PRESS mini glaucoma shunt. To our knowledge, this potential complication of the device has not been reported.
J Cataract Refract Surg 2011 Jul
PMID:Traumatic cataract associated with mini glaucoma shunt. 2170 Jan 14

We describe the successful treatment in a patient with bilateral congenital aniridia and cataract by insertion of capsular tension rings and IOL.
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PMID:Aniridia rings implantation for treatment of congenital aniridia combined with cataract surgery: a case report. 2255 96

Aniridia is defined as missing iris tissue which can be partial, subtotal or total. Characteristic clinical symptoms include photophobia and decreased visual acuity due to an increased light perception. In addition, disturbing cosmetic problems are prevalent. Modern iris reconstruction implants offer visual and cosmetic rehabilitation. Amongst them are aniridia intraocular lenses (IOL), iris segment implants and the "artificial iris". Different overall and pupil diameters are available for total or partial implants. At the same time aphakia or cataract can be treated when using aniridia IOLs. Intra- and extracapsular fixation is possible. The "artificial iris" can be folded and implanted through small incisions. The aesthetic results are improved significantly due to customised colour selection providing increased patient satisfaction postoperatively.
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PMID:[Aniridia-IOL and artificial iris reconstruction]. 2375 72

We present the first case of partial aniridia, traumatic cataract, and peripapillary subretinal hemorrhage after blunt trauma to an eye containing a foldable iris-fixated phakic intraocular lens (pIOL). Although the patient experienced visual loss because of considerable corneal astigmatism and a traumatic cataract, vision was recovered by a 2-stage primary corneal repair and cataract surgery with a toric intraocular lens. This case exhibits clinical manifestations that differ from previously reported trauma of a non-foldable iris-fixated pIOL. A relatively small corneal incision and a large optic diameter of Artiflex pIOLs may prevent posttraumatic total expulsion of intraocular tissues and present different clinical features from the case of non-foldable pIOLs (Artisan). Although the extent of the damage is different, the possibility of aniridia and traumatic cataract exists in eyes with both foldable and non-foldable iris-fixated pIOLs.
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PMID:Traumatic partial aniridia and cataract after iris-fixated foldable phakic intraocular lens implantation. 2434 4


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