35 results match your criteria congenital aniridia-associated


Use of the XEN gel implant in a patient with aniridia-associated glaucoma.

Am J Ophthalmol Case Rep 2021 Jun 31;22:101080. Epub 2021 Mar 31.

Department of Ophthalmology, Sorlandet Hospital, Norway.

Purpose: To report on the implantation of a XEN 45 gel implant in a patient with glaucoma associated with congenital aniridia.

Observations: A 60-year old man with familial congenital aniridia and glaucoma presented with intraocular pressure of 30 mmHg in his right eye despite maximal topical treatment with four medications. Implantation of a XEN gel stent was performed without complications after subconjunctival injection of mitomycin-C (0. Read More

View Article and Full-Text PDF

Congenital aniridia - A comprehensive review of clinical features and therapeutic approaches.

Surv Ophthalmol 2021 Mar 4. Epub 2021 Mar 4.

Department of Ophthalmology, Oslo University Hospital, Oslo, Norway; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.

Congenital aniridia is a rare genetic eye disorder with total or partial absence of the iris from birth. In most cases the genetic origin of aniridia is a mutation in the PAX6 gene, leading to involvement of most eye structures. Hypoplasia of the fovea is usually present and is associated with reduced visual acuity and nystagmus. Read More

View Article and Full-Text PDF

Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations.

Ocul Surf 2020 01 14;18(1):130-140. Epub 2019 Nov 14.

Klinik für Augenheilkunde, Universitätsklinikum des Saarlandes UKS, Homburg, Germany.

Purpose: To investigate corneal phenotype in aniridia-associated keratopathy (AAK) including its earliest manifestations, in relation to PAX6 mutational status.

Methods: 46 subjects (92 eyes) with congenital aniridia from a German registry were examined using slit lamp biomicroscopy, anterior segment optical coherence tomography, contact esthesiometry and in vivo confocal microscopy. Cytogenetic analysis was conducted by Sanger sequencing of PAX6 exons and/or MLPA analysis. Read More

View Article and Full-Text PDF
January 2020

Management of Congenital Aniridia-Associated Keratopathy: Long-Term Outcomes from a Tertiary Referral Center.

Am J Ophthalmol 2020 02 12;210:8-18. Epub 2019 Nov 12.

Department of Ophthalmology and Visual Sciences, Illinois Eye and Ear Infirmary, University of Illinois at Chicago, Chicago, Illinois, USA. Electronic address:

Purpose: To report the outcomes of medical and surgical management for congenital aniridia-associated keratopathy (AAK) over a long-term follow-up period.

Design: Retrospective, comparative case series.

Methods: Medical records of patients diagnosed with congenital aniridia were retrospectively reviewed. Read More

View Article and Full-Text PDF
February 2020

A novel PAX6 mutation causes congenital aniridia with or without retinal detachment.

Ophthalmic Genet 2019 04 15;40(2):146-149. Epub 2019 Apr 15.

c Ophthalmic Research Center , Shahid Beheshti University of Medical Sciences , Tehran , Iran.

Background: Aniridia is a rare developmental eye disorder characterized by complete or partial iris hypoplasia often accompanied with other ocular changes that affect the cornea, anterior chamber, lens, retina, and optic nerve. Most cases of aniridia are inherited with an autosomal dominant mode of inheritance caused by PAX6 mutations or deletions. To reveal the underlying genetic defect in a four-generation Iranian family with aniridia, we carried out a genetic screening of PAX6. Read More

View Article and Full-Text PDF

Meibomian gland dysfunction and keratopathy are associated with dry eye disease in aniridia.

Br J Ophthalmol 2019 01 8;103(1):119-124. Epub 2018 Mar 8.

Department of Ophthalmology, Oslo University Hospital, Oslo, Norway.

Aims: To investigate the aetiology and characteristics of dry eye disease (DED) in a Nordic cohort of patients with congenital aniridia.

Methods: Thirty-four Norwegian and one Danish subject with congenital aniridia and 21 healthy controls were examined. All subjects underwent an extensive dry eye examination, including evaluation of meibomian glands (MGs) by meibography, measurement of tear production and tear film osmolarity and grading of vital staining of the ocular surface. Read More

View Article and Full-Text PDF
January 2019

[Diagnostic capabilities of optical coherence tomography and confocal laser scanning microscopy in studying manifestations of aniridia-associated keratopathy].

Vestn Oftalmol 2017;133(6):30-44

Research Center for Medical Genetics, 1 Moskvorech'e St., Moscow, Russian Federation, 115478; Pirogov Russian National Research Medical University, 1 Ostrovityanova St., Moscow, Russian Federation, 117997.

Aim: to investigate the possible use of anterior segment optical coherence tomography (AS-OCT) and laser scanning confocal microscopy (LSCM) for visualization of limbal progenitor structures and epithelial changes at different stages of aniridia-associated keratopathy (AAK) and to analyze genotype-phenotype correlations of corneal damage.

Material And Methods: Thirty-four patients (63 eyes) with congenital aniridia (CA) were subjected to epithelial cell density measurement in the central cornea as well as epithelial surface assessment with limbal palisades of Vogt (POV) detection in the corresponding sites of the two corneas. For that, LSCM (HRT3) and AS-OCT (RTVue XR Avanti) were performed. Read More

View Article and Full-Text PDF

Stage-related central corneal epithelial transformation in congenital aniridia-associated keratopathy.

Ocul Surf 2018 01 10;16(1):163-172. Epub 2017 Nov 10.

Chair and Clinical Department of Ophthalmology, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, District Railway Hospital, Katowice, Poland.

Purpose: To relate central corneal epithelial phenotype to degree of keratopathy in a limbal stem cell deficient population.

Methods: 37 patients (67 eyes) with aniridia-associated keratopathy (AAK) underwent corneal examination including slit lamp biomicroscopy to determine the Grade of AAK, Cochet-Bonnet esthesiometry, and in vivo confocal microscopy (IVCM) to assess morphology of the central corneal epithelium and subepithelial region.

Results: AAK Grade ranged from 1 (limbal involvement only) to 4 (total conjunctivalization), with progression from Grade 1 occurring after the age of 20. Read More

View Article and Full-Text PDF
January 2018

Corneal Abnormalities in Congenital Aniridia: Congenital Central Corneal Opacity Versus Aniridia-associated Keratopathy.

Am J Ophthalmol 2018 Jan 31;185:75-80. Epub 2017 Oct 31.

Department of Ophthalmology and the Laboratory of Ocular Regenerative Medicine and Immunology, Biomedical Research Institute, Seoul National University Hospital, Seoul, South Korea. Electronic address:

Purpose: To clinically characterize and compare 2 types of corneal abnormalities in patients with congenital aniridia: (1) congenital central corneal opacity from birth (CCO) and (2) aniridia-associated keratopathy (AAK) that develops progressively with age.

Design: Retrospective cohort study.

Methods: Medical records of Korean patients who were diagnosed with congenital aniridia at Seoul National University Hospital between 1991 and 2016 were reviewed. Read More

View Article and Full-Text PDF
January 2018

Clinical and morphological manifestations of aniridia-associated keratopathy on anterior segment optical coherence tomography and in vivo confocal microscopy.

Ocul Surf 2017 10 8;15(4):759-769. Epub 2017 Jul 8.

Federal State Budgetary Institution, Research Center for Medical Genetics, Moscow, Russian Federation; Pirogov Russian National Research Medical University, Moscow, Russian Federation.

Purpose: The study aimed to evaluate clinical and morphological changes in the limbal palisades of Vogt (POV) at different stages of aniridia-associated keratopathy (AAK) and to assess possible utility of anterior segment optical coherence tomography (AS-OCT) for the visualization of limbal progenitor structures as it correlates to laser scanning confocal microscopy (LSCM) data.

Methods: The study involved 32 patients (59 eyes) with congenital aniridia. AAK stage was defined based on biomicroscopy. Read More

View Article and Full-Text PDF
October 2017

Iris reconstruction using artificial iris prosthesis for management of aniridia.

Eur J Ophthalmol 2018 Jan;28(1):103-107

1 Department of Ophthalmology, Cairo University, Cairo - Egypt.

Purpose: To discuss the limitations and benefits of the BrightOcular prosthetic artificial iris device in management of aniridia associated with aphakia or cataract.

Methods: This is a retrospective study including 5 eyes of 4 patients who underwent implantation of the BrightOcular iris prosthesis (Stellar Devices) for total or partial aniridia. The cases included 2 eyes of 1 patient with congenital aniridia associated with congenital cataract and 3 eyes with traumatic aniridia: 1 with subluxated cataractous lens and 2 with aphakia. Read More

View Article and Full-Text PDF
January 2018

Congenital Aniridia and the Ocular Surface.

Ocul Surf 2016 04 29;14(2):196-206. Epub 2015 Dec 29.

Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden. Electronic address:

Aniridia is a congenital pan-ocular disorder caused by haplo-insufficiency of Pax6, a crucial gene for proper development of the eye. Aniridia affects a range of eye structures, including the cornea, iris, anterior chamber angle, lens, and fovea. The ocular surface, in particular, can be severely affected by a progressive pathology termed aniridia-associated keratopathy (AAK), markedly contributing to impaired vision. Read More

View Article and Full-Text PDF

Congenital aniridia: etiology, manifestations and management.

Expert Rev Ophthalmol 2016 9;11(2):135-144. Epub 2016 Mar 9.

Children's Eye Center of UPMC, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, 15213, USA.

Congenital aniridia manifests as total or partial absence of the iris caused most commonly by mutations in PAX6, FOXC1, PITX2, and CYP1B1. Recently two new genes, and , have also been implicated in isolated studies. We discuss the genotype-phenotype correlations for the main implicated genes. Read More

View Article and Full-Text PDF

Treatment of congenital aniridia associated with subluxated infantile cataract.

Med Arch 2014 Jun 31;68(3):212-4. Epub 2014 May 31.

Eye Clinic, University Clinical Centre Tuzla, Tuzla, Bosnia and Herzegovina.

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. Read More

View Article and Full-Text PDF

[Aniridia syndrome: clinical findings, problematic courses and suggestions for optimization of care ("aniridia guide")].

Ophthalmologe 2014 Dec;111(12):1145-56

Klinik für Augenheilkunde, Sektion KiOLoN, Kinderophthalmologie, Orthoptik, Low Vision, Neuroophthalmologie, Universitätsklinikum des Saarlandes UKS, Kirrbergerstr. 100, Geb. 22, 66424, Homburg (Saar), Deutschland,

Background: Congenital aniridia manifests in different forms: it can be transmitted in an autosomal dominant way, as sporadic aniridia and as part of several syndromes including WAGR (Wilms tumor, aniridia, genitourinary abnormalities and intellectual disability) and WAGRO syndromes (WAGR and obesity). Furthermore, recent research shows that aniridia associated with alterations in the PAX6 gene often shows further systemic implications (e.g. Read More

View Article and Full-Text PDF
December 2014

[Clinical Findings in Family with Aniridia due the PAX6 Mutation].

Cesk Slov Oftalmol Fall 2014;70(4):138-44

Background: inborn isolated aniridia is rare bilateral impairment of several eye structures manifesting mainly by absence of iris, photophobia and decreased visual acuity. There are also others ocular symptoms associated with aniridia such as nystagmus, strabismus, eyelid ptosis, amblyopia, serious refractive errors, anisometropia, corneal changes, impairment of the lens, chamber angle dysgenesis, optic nerve and macular hypoplasia and congenital or secondary glaucoma. The most frequent aetiology of this eye dysgenesis is mutation in PAX6. Read More

View Article and Full-Text PDF
October 2014

Treatment of congenital aniridia associated with subluxated infantile cataract.

Med Arh 2014 ;68(3):212-4

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. Read More

View Article and Full-Text PDF
October 2014

Rare association of familial aniridia, microcornea with myopia and aphakia.

Middle East Afr J Ophthalmol 2014 Jul-Sep;21(3):268-70

Midnapur Medical College, Midnapur, West Bengal, India.

Aniridia is a rare congenital malformation that may be associated with various ocular and systemic manifestations. We describe two cases of familial total aniridia associated with microcornea, high myopia and dislocated lens. No systemic abnormality was noted in any of the cases. Read More

View Article and Full-Text PDF
November 2014

The clinical characterization and surgical correction of blepharoptosis associated with congenital aniridia.

Ophthalmic Plast Reconstr Surg 2015 Jan-Feb;31(1):38-42

*Department of Ophthalmology, California Pacific Medical Center, San Francisco, California; †Cincinnati Eye Institute, Cincinnati, Ohio; and ‡Department of Ophthalmology, University of California, San Francisco, California, U.S.A.

Purpose: To document the clinical characteristics and describe our management of patients with blepharoptosis associated with congenital aniridia.

Methods: Consecutive retrospective case series of patients with congenital aniridia seen at a single institution (Cincinnati Eye Institute) from 1963 to 2010. Surgical correction was performed by 2 surgeons (J. Read More

View Article and Full-Text PDF

A review of the clinical and genetic aspects of aniridia.

Semin Ophthalmol 2013 Sep-Nov;28(5-6):306-12

Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School , Boston, Massachusetts , USA.

Aniridia classically presents with a bilateral congenital absence or malformation of the irides, foveal hypoplasia, and nystagmus, and patients tend to develop visually significant pre-senile cataracts and keratopathy. Additionally, they are at high risk for developing glaucoma. Classic aniridia can be genetically defined as the presence of a PAX6 gene deletion or loss-of-function mutation that results in haploinsufficiency. Read More

View Article and Full-Text PDF

Aniridia associated with lens coloboma and secondary glaucoma treated with transcorneal argon laser ciliary body photocoagulation: a case report.

Case Rep Ophthalmol 2013 May 24;4(2):44-7. Epub 2013 Jun 24.

Eye Department at Second University of Naples, Naples, Italy.

Purpose: The aim of this study is to describe the management of cataract and refractory glaucoma in a case of congenital aniridia (AN)-1.

Methods: In an 18-year-old female patient affected by congenital AN, bilateral coloboma of the zonula and lens, cataract and glaucoma, pars plana vitrectomy, cataract extraction and subsequent transcorneal ciliary body argon laser photocoagulation were performed.

Results: Five years after laser treatment, the best-corrected visual acuity was 20/50 and the intraocular pressure was stable at 18 mm Hg with topical pharmacological management consisting of timolol 0. Read More

View Article and Full-Text PDF

In vivo confocal microscopy of congenital aniridia-associated keratopathy.

Authors:
Q Le S X Deng J Xu

Eye (Lond) 2013 Jun 12;27(6):763-6. Epub 2013 Apr 12.

Department of Ophthalmology, Eye & ENT Hospital of Fudan University, Shanghai, China.

Purpose: To explore the in vivo morphological changes of cornea and limbus in aniridia-associated keratopathy (AAK).

Methods: Three cases of AAK were examined with the application of in vivo confocal microscopy (IVCM).

Results: Abnormal structure of wing and basal layer of epithelium, the loss of subbasal nerves, and the presence of goblet cells at central cornea could be identified in the most severe case, along with the absence of Vogt palisades. Read More

View Article and Full-Text PDF

A case of aniridia with unilateral Peters anomaly.

J AAPOS 2011 Feb;15(1):104-6

Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Aniridia is an autosomal-dominant, panocular, congenital anomaly transmitted with high penetrance and largely caused by mutations in the PAX6 gene. Although Peters anomaly may also be caused by mutations in PAX6, there has not to our knowledge been a report of aniridia associated with lens displacement into the anterior chamber and lenticular-corneal attachment. We report a child with aniridia and Peters anomaly associated with a PAX6 gene mutation. Read More

View Article and Full-Text PDF
February 2011

Aniridia associated with congenital aphakia and secondary glaucoma.

Indian J Ophthalmol 2009 Jul-Aug;57(4):313-4

VST Center for Glaucoma Care, L.V. Prasad Eye Institute, Hyderabad, India.

We report a case of aniridia associated with congenital aphakia and secondary glaucoma. A 35-year-old male presented with aniridia, congenital aphakia and secondary glaucoma in both eyes. After an unsuccessful medical management, he underwent trabeculectomy with mitomycin C and anterior vitrectomy under local anesthesia in his left eye. Read More

View Article and Full-Text PDF
January 2010

Bilateral aniridia lenticular coloboma and snowflake retinal degeneration.

Ophthalmic Surg Lasers Imaging 2009 Jan-Feb;40(1):54-6

Inonu University, Medical Faculty, Turgut Ozal Medical Center, Research Hospital, Malatya, Turkey.

A 6-year-old boy presented with bilateral aniridia associated with lens coloboma and snowflake retinal degeneration. Ophthalmologic examination revealed bilateral corneal peripheral epithelial thickening and aniridia. Additionally, the patient had lenticular coloboma and snowflake retinal degeneration in both eyes. Read More

View Article and Full-Text PDF
February 2009

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Mol Vis 2007 Apr 2;13:511-23. Epub 2007 Apr 2.

EA n 2502 du Ministère de la Recherche, de l'Enseignement Supérieur et la Technologie, Center de Recherches Thérapeutiques en Ophtalmologie (CERTO), Université René Descartes-Paris V, Faculté de Médecine René Descartes-Site Necker, Paris, France.

Purpose: The PAX6 gene was first described as a candidate for human aniridia. However, PAX6 expression is not restricted to the eye and it appears to be crucial for brain development. We studied PAX6 mutations in a large spectrum of patients who presented with aniridia phenotypes, Peters' anomaly, and anterior segment malformations associated or not with neurological anomalies. Read More

View Article and Full-Text PDF