Bilateral sporadic aniridia: review of management

Adeoti, C O; Afolabi, Adeyinka A; Ashaye, Adebimpe O; Adeoye, AO

doi:10.2147/opth.s11905

Cited by 6 publications

(5 citation statements)

References 39 publications

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“…These patients frequently suffer from severe glare and decreased visual acuity. A number of strategies have been developed to manage the disabling effects of aniridia, including colored contact lens, eyelid surgery, corneal tattooing and implantation of artificial iris ( 31 ). For Patient 1, implantation of an artificial iris-lens diaphragm may effectively correct aphakia and reduce glare.…”

Section: Discussionmentioning

confidence: 99%

Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract

Gao

Chen

et al. 2018

Mol Med Report

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Congenital aniridia is a rare genetic disorder characterized by a variable degree of hypoplasia or absence of iris. It is frequently associated with keratopathy, cataract, juvenile-onset glaucoma and foveal and optic nerve hypoplasia. Mutations in the Paired Box 6 (PAX6) gene on chromosome 11p13 have been demonstrated to cause aniridia. The aim of the present study was to investigate the genetic variations of PAX6 in two sporadic patients from southern China with classic congenital aniridia and cataract. Complete ophthalmic and physical examinations were performed, including best-corrected visual acuity, intraocular pressure, slit-lamp examination, fundus examination, optical coherence tomography, ultrasound biomicroscopy, and Pentacam scanning. Genomic DNA was extracted from leukocytes of peripheral blood collected from the two patients, their unaffected parents and 200 unrelated control subjects from the same population. Exons 4–13 of the PAX6 gene were amplified by polymerase chain reaction and sequenced directly. Patient 1 was affected with aniridia accompanied by congenital cataract and nystagmus. A novel heterozygous PAX6 frameshift mutation c.277delG (p.Glu93SerfsX31) in exon 6 was identified in this patient. Patient 2 was presented with aniridia, congenital cataract, lens subluxation and glaucoma. A recurrent nonsense mutation c.718C>T (p.Arg240X) in exon 9 was identified in this patient. The present results expand the mutation spectrum of PAX6 and will be valuable for genetic counseling in the affected families. Additionally, the identification of these mutations reiterates the importance of PAX6 in ocular development and sheds light on the pathogenesis of congenital aniridia.

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Section: Discussionmentioning

confidence: 99%

Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract

Gao

Chen

et al. 2018

Mol Med Report

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“…Aniridia is a complex disorder that usually results in severely impaired vision from multiple causes including aniridia associated keratopathy (AAK), cataract, glaucoma, foveal hypoplasia, nystagmus and retinal detachment ( 1 , 7 , 9 ).…”

Section: Discussionmentioning

confidence: 99%

“…On the other hand, glaucoma has been found to be the most important complication, though implantation of the iris prosthesis in the capsular bag may reduce this complication. Implantation in the capsular bag requires a larger capsulorrhexis which can present a surgical challenge in eyes with changed anterior capsule ( 9 ).…”

Section: Discussionmentioning

confidence: 99%

Treatment of Congenital Aniridia Associated with Subluxated Infantile Cataract

Jusufovic¹,

Cabric²,

Popovic-Beganovic³

et al. 2014

Med Arh

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A 5 year old boy was presented at Eye clinic University clinical center Tuzla with congenital aniridia in both eyes. Clinical examination revealed visual acuity of 0,08 without correction in right and 0.7 with -5.0 Dsph and -1.0 Dcyl Axx 109° in left eye. Opthalmologic examination showed bilateral aniridia associated with moderate cataract in the right and incipient cataract in the left eye. In the right eye, zonular weakness with incipient capsular displacement and esotropia of Δ6º, were noted. The patient underwent phacoemulsification, implantation of capsular tension ring and Artificial Iris implant in the capsular bag. Phacoemulsification went uneventful and early postoperative recovery was successful with no signs of aniridia-associated keratopathy development and normal values of intra ocular pressure. Patient was not motivated for operation of the left eye and it was corrected with soft contact lens. Six month after the operation visual acuity in the right eye improved to 0.9 with +1.25Dsph and maintained stable in left eye, with complete elimination of esotropia and signs of binocular vision restoration. Small incision cataract extraction with IOL and Artificial Iris implantation in one procedure can be used to correct congenital aniridia and cataract with significant visual function improvement.

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“…Épidémiologie : L'incidence annuelle varie de 1/40 000 naissances à 1/100 000 naissances mais elle est peut-être sous-estimée, sans influence connue d'ethnicité ou de sexe [Adeoti et al, 2010 ;Hingorani et al, 2012].…”

Section: Définition De La Maladie Et éPidémiologieunclassified