Cases reported "Aniridia"

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1/6. 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.
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2/6. 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.
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3/6. Bilateral Duane syndrome and bilateral aniridia.

    duane retraction syndrome has been reported in association with structural abnormalities of the eye, including epibulbar dermoid, keratoconus, iris dysplasia, heterochromia iridis, persistent fetal vasculature, cataract, choroidal coloboma, microphthalmia, and optic nerve dysplasia. A novel association, that of bilateral Duane syndrome with bilateral aniridia, is the subject of this report.
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4/6. Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.

    BACKGROUND: Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia. Unlike the more common dominant and sporadic forms of aniridia, there have been no associated PAX6 mutations or Wilms' tumor reported in Gillespie syndrome patients. Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy. CASE REPORT: We herein report a case of atypical Gillespie syndrome associated with bilateral ptosis, exotropia, corectopia, iris hypoplasia, anterior capsular lens opacities, foveal hypoplasia, retinal vascular tortuosity, and retinal hypopigmentation. Neurologic evaluation revealed a mild hand tremor and learning disability, but no ataxia or cerebellar abnormalities on neuroimaging. Sequencing studies revealed a substitution in intron 2 of the PAX6 gene (IVS2 2T > A). To our knowledge, this is the first mutation of PAX6 gene reported in association with a Gillespie-like syndrome.
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5/6. Indications for keratoepithelioplasty.

    Thirteen patients with ocular surface failure were treated by keratoepithelioplasty using allografts of corneal limbal epithelial cells from donor eyes. The ocular surface was stabilized with long-term healing of persistent epithelial defects in five of eight eyes followed up for 4 to 19 months. The procedure was performed on an additional 5 patients with superficial keratopathies. Three of those five procedures resulted in a stable and clear optical surface. These results suggest that epithelial transplantation may be a useful option in the care of chronic ocular surface failure unresponsive to conventional medical management.
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6/6. retinal detachment and giant retinal tears in aniridia.

    Clinical findings in aniridia may include corneal epitheliopathy, glaucoma, lens subluxation and cataract, and hypoplasia of the fovea and optic nerve. We report the occurrence of retinal detachment due to giant tears in four eyes of three children with aniridia. All eyes were buphthalmic and none had undergone lens or posterior segment surgery. All operated eyes underwent vitreolensectomy and silicone oil injection; useful vision was restored in two eyes. The pathogenesis and management of this previously unreported complication are discussed.
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