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Problemstellung Ein weiblicher Säugling wurde nach unauffälliger Schwangerschaft und Geburt vom Kinderarzt an die Schielambulanz überwiesen, nachdem den Eltern sowie dem Arzt aufgefallen war, dass die junge Patientin nicht fixierte. Nach ausführlicher orthoptischer und ophthalmologischer Untersuchung konnte die Diagnose Aniridie auf Grund eines WAGR-Syndroms (Wilms-Tumor, Aniridie, Genito-urinale Anomalien, mentale Retardation) gestellt werden. Methoden Um solch eine Diagnose mit Sicherheit stellen zu können, wurden über lange Zeit regelmäßige Untersuchungen und Kontrollen an der Schielambulanz sowie bei Opthalmolog*innen durchgeführt. Das WAGR-Syndrom konnte durch eine Genuntersuchung verifiziert werden. Im Zuge des orthoptischen Untersuchungsablaufes wurden regelmäßige Anamnesen sowie der Visus erhoben und der Schielwinkel wurde festgestellt und gemessen. Die Augenmotilität sowie die Konvergenz wurden geprüft, die Pupillenreaktion getestet und eine Fehlsichtigkeit konnte mit Hilfe des Brückner-Tests und Skiaskopien ausfindig gemacht werden. Stereotests wurden versucht. Regelmäßige ophthalmologische Kontrollen wurden durchgeführt. Die Untersuchungsabläufe und Untersuchungsmöglichkeiten veränderten sich mit steigendem Alter der Patientin. Ergebnisse Eine Aniridie in Folge des WAGR-Syndroms konnte diagnostiziert werden. Auf Grund der Aniridie kam es zum okulären Nystagmus und zu einer manifesten Schielstellung, die im Laufe des Untersuchungszeitraumes festgestellt werden konnte. Es bestand eine Hyperopie beidseits sowie eine Anisometropie. Eine geringe einseitige Katarakt konnte ermittelt werden. Diskussion Die spontane beidseitige Aniridie durch WAGR-Syndrom ist eine sehr seltene Diagnose, bei der Ophthalmolog*innen in der Diagnostik eine wichtige Rolle zukommt. Zeitgleiches Auftreten der Aniridie mit Nystagmus und Schielstellung ist keine Seltenheit. Weder Aniridie noch das WAGR-Syndrom sind heilbar. Im Laufe der Erkrankung kommt es zu Blendungsempfindung, Visusreduktion und einer Reihe weiterer Komplikationen. In Bezug auf die Therapie werden Behandlungsmöglichkeiten zwischen Ophthalmolg*innen, Orthoptist*innen und Optiker*innen kontrovers diskutiert. Eine zeitnahe und lebenslange Behandlung ist wichtig, um ernsthaften Komplikationen vorzubeugen. Problem Following a pregnancy and a delivery without problems, a female infant was referred to the orthoptist by a paediatrician. The parents and the doctor had noticed that the patient did not fixate. After detailed and extensive orthoptical and ophthalmological examinations, the clinical picture of aniridia due to a WAGR-syndrome (Wilms-tumour, Aniridia, Genitourinal anomalies, mental Retardation) was diagnosed. Methods In order to achieve such a diagnosis with certainty, regular examinations and checks were carried out by the orthoptist and the ophthalmologist over a long period of time. A WAGR-syndrome was diagnosed with the help of a genetic test. In the course of the orthoptical examinations, a regular medical case history and the visual acuity were recorded, the angle of squint was determined and measured. The motility of the eyes as well as the convergence were tested, the pupil reactions were checked. Refractive errors were detected with the help of a Brückner test and by retinoscopy. Stereo tests were tried. Regular ophthalmological examinations were carried out. The examination procedures and the possibilities of examinations improved with the increasing age of the patient. Results Aniridia as a result of WAGR-syndrome was diagnosed. Due to the aniridia, ocular nystagmus and a manifest strabismus occured, which could be detected by the performed investigations. Hyperopia in both eyes and anisometropia were diagnosed. A slight unilateral cataract was detected. Discussion Spontaneous bilateral aniridia due to WAGR-syndrome is a very rare diagnosis in which ophthalmologists play an important role in the diagnostic procedures. Simultaneous occurrence of aniridia with nystagmus and strabismus is not uncommon. Neither aniridia nor WAGR syndrome are curable. During the course of the disease, glare, reduced visual acuity and a number of other complications can occur. Treatment options are controversially discussed by ophthalmologists, orthoptists and opticians. Timely and lifelong treatments are mandatory to prevent serious complications.

Three groups of iris prostheses can be distinguished for the surgical treatment of iris defects: (1) segmental iris implants, (2) combined iris diaphragm intraocular lenses (IOL) and (3) pure iris implants. Most iris reconstructions are accompanied by aphakia correction with secondary IOL implantation. Although the primary goal is to create a pupil and to improve glare perception, contrast sensitivity and visual acuity, the esthetic result is also a relevant component.Functional and esthetic results after replacement of an aniridia IOL implant with a custom-made artificial iris with IOL.In this retrospective study with seven eyes from seven patients, an iris diaphragm IOL (Morcher GmbH, Stuttgart, Germany) was exchanged for medical reasons (subluxation) against a custom-made artificial iris made of silicone (ArtificialIris, HumanOptics, Erlangen, Germany) in combination with a sutured IOL. The follow-up period was at least 3 months. Best corrected distance visual acuity (BCVA), endothelial cell count (ECC), complications, glare perception as well as esthetic outcome and patient satisfaction were evaluated.The BCVA and ECC showed no statistically significant change between the preoperative and postoperative values (p 0.05). There was a decentration of the iris IOL implant of 0.27 ± 0.19 mm three months postoperatively. On a visual analogue scale (VAS) from 1 to 10 (1 = not satisfied at all, 10 = extremely satisfied), satisfaction with the overall result was rated 8.6 ± 2.5. Subjective glare perception improved to 5.6 ± 3.5 and subjective esthetic impairment improved to 2.4 ± 2.0 on the VAS (1 = none, 10 = extremely strong). Postoperative complications included transient intraocular hypotonia in two eyes, intraocular pressure increase in two eyes, retinal detachment and transient vitreous hemorrhage in one eye each. Of the seven patients six would repeat the procedure.Compared to a rigid aniridia IOL implant, replacement with a custom-made artificial iris in combination with an IOL provides not only a good functional result but simultaneously also an esthetically pleasing result.HINTERGRUND: Es können 3 Gruppen an Irisprothesen zur chirurgischen Versorgung von Irisdefekten unterschieden werden: (1) segmentale Irisimplantate, (2) kombinierte Irisblenden-Intraokularlinsen (IOL) und (3) reine Irisimplantate. Die meisten Irisrekonstruktionen gehen zusätzlich mit einer Aphakiekorrektur durch sekundäre Linsenimplantation einher. Auch wenn primäre Ziele die Herstellung einer Pupille sowie die Besserung des Blendungsempfindens, der Kontrastsensitivität und der Sehschärfe sind, spielt das ästhetische Ergebnis eine nicht zu vernachlässigende Rolle.Dargestellt werden funktionelle und ästhetische Ergebnisse nach Austausch von Aniridie-IOL-Implantaten gegen eine individuell angefertigte künstliche Iris in Kombination mit einer IOL.In dieser retrospektiven Studie mit 7 Augen von 7 Patienten wurde eine Irisblenden-IOL (Morcher GmbH, Stuttgart) aus medizinischen Gründen (Subluxation) gegen eine individuell hergestellte künstliche Iris aus Silikon (ArtificialIris, HumanOptics, Erlangen) in Kombination mit einer angenähten IOL ausgetauscht. Die Nachbeobachtungszeit betrug mindestens 3 Monate. Bestkorrigierter Fernvisus (BCVA), Endothelzellzahl (ECC), Komplikationen, Blendungsempfinden, das ästhetische Ergebnis und die Patientenzufriedenheit wurden evaluiert.BCVA und ECC zeigten keine statistisch signifikante Änderung zwischen prä- und postoperativ (p 0,05). Es zeigte sich eine Dezentrierung des Iris-IOL-Implantats von 0,27 ± 0,19 mm 3 Monate postoperativ. Auf einer visuellen Analogskala (VAS) von 1 bis 10 (1 = gar nicht bis 10 = extrem zufrieden) wurde die Zufriedenheit mit dem Gesamtergebnis mit 8,6 ± 2,5 bewertet. Das subjektive Blendungsempfinden besserte sich auf 5,6 ± 3,5 und die subjektive ästhetische Beeinträchtigung auf 2,4 ± 2,0 auf der VAS (1 = gar nicht bis 10 = extrem stark). Die postoperativen Komplikationen umfassten eine vorübergehende intraokulare Hypotonie in zwei, einen Druckanstieg in zwei, eine Netzhautablösung und eine transiente Glaskörperblutung jeweils in einem Auge. Sechs von sieben Patienten würden den Eingriff wiederholen.Im Vergleich zu einem starren Aniridie-IOL-Implantat bietet der Austausch gegen eine individuell angefertigte künstliche Iris in Kombination mit einer IOL neben einem guten funktionellen gleichzeitig auch ein ästhetisch ansprechendes Ergebnis.

Patients with iris defects suffer from severe visual impairment, especially increased glare sensitivity, and cosmetic disturbances. This can constitute a great psychological strain for patients. In the recent past the treatment consisted of iris print contact lenses, sunglasses and simple iris prostheses. The indications for surgical treatment are colobomas of the iris, aniridia, traumatic iris defects and persistent mydriasis. The aim of this review article is to investigate the surgical approaches, complications, functional and aesthetic outcome after implantation of an individual artificial iris prosthesis made from silicone.Analysis of the literature on the topic of surgical iris reconstruction with an artificial iris in combination with the own experience in more than 120 patients treated by the author in the last 10 years.The custom-made flexible silicone iris prosthesis ArtificialIris (HumanOptics, Erlangen, Germany) assessed in this review is an innovative and versatile option for surgical treatment of iris defects. Patients were examined before and after iris reconstruction with respect to feasibility, complications and outcome.Change of best corrected visual acuity, intraocular pressure, pupillary opening, glare, contrast sensitivity, endothelial cell count, anterior chamber depth, anterior chamber angle and patient satisfaction were assessed. Furthermore, complications and color match to the residual and fellow iris were assessed.The implantation of an artificial iris is an effective option for the treatment of extensive traumatic iris defects and leads to an individual aesthetically appealing and good functional outcome as well as high patient satisfaction; however, this is an intervention that should not be underestimated because of a flat learning curve and various complications that can occur.HINTERGRUND: Patienten mit Irisdefekten leiden unter starken Sehbeeinträchtigungen, insbesondere erhöhter Blendungsempfindlichkeit, und kosmetischen Beeinträchtigungen. Dies kann eine große psychische Belastung für die betroffenen Patienten darstellen. In der jüngeren Vergangenheit bestand die Behandlung aus farbigen Iriskontaktlinsen, Sonnenbrillen und einfachen Irisprothesen. Indikationen für eine chirurgische Behandlung sind Kolobome der Iris, Aniridie, traumatische Irisdefekte und persistierende Mydriasis. Ziel dieser Übersichtsarbeit ist es, chirurgische Ansätze, funktionelle und ästhetische Ergebnisse sowie Komplikationen nach Implantation einer individuellen künstlichen Irisprothese aus Silikon zu untersuchen.Analyse der veröffentlichten Literatur zum Thema chirurgische Irisrekonstruktion mit einer künstlichen Iris in Kombination mit eigenen Erfahrungen über 120 vom Autor in den letzten 10 Jahren behandelter Patienten.Die in dieser Übersichtsarbeit verwendete maßgefertigte, flexible Silikonirisprothese ArtificialIris (HumanOptics, Erlangen, Deutschland) ist eine innovative und vielseitige Option in der chirurgischen Behandlung von Irisdefekten. Besprochen werden die diversen Implantationstechniken, die erreichbaren Ergebnisse sowie die möglichen Komplikationen.Untersucht wurden die Veränderung der bestkorrigierten Sehschärfe, der Augeninnendruck, die Pupillenöffnung, die Blendung, die Kontrastempfindlichkeit, die Endothelzellzahl, die Vorderkammertiefe, der Kammerwinkel und die Patientenzufriedenheit. Weiterhin wurden Komplikationen und die Farbanpassung an die Rest- und Partneraugeniris bewertet.Die Implantation der künstlichen Iris ist eine effektive Therapieoption zur Behandlung ausgeprägter traumatischer Irisdefekte und führt neben einer hohen Patientenzufriedenheit zu einem individuellen, ästhetisch ansprechenden und guten funktionellen Ergebnis. Es handelt sich aber um einen nicht zu unterschätzenden Eingriff mit flacher Lernkurve, bei dem Komplikationen auftreten können.

The implantation of the Artificial Iris® (Human Optics AG, Erlangen, Germany) is used for pupil and iris reconstruction in patients with partial or complete aniridia. So far, only a few case reports and short-term results are available in the literature.The aim of this analysis is to present the various indications as well as the functional result.This retrospective consecutive case study included 51 eyes of 50 patients with implantation of an Artificial Iris® for pupillary reconstruction. All operations were performed by the same ophthalmic surgeon (UV) at the University Eye Clinic Mainz. The initial findings were placed in relation to the indications and the functional results were investigated.In this study 51 eyes of 50 patients with a mean age of 57 ± 16.5 years (16 women and 34 men) were analyzed. While the majority of the patients suffered from a traumatic partial or complete aniridia, the minority showed congenital defects. The visual acuity could be improved in 53% of the patients (p = 0.0001) postoperatively.This analysis highlights the various and diverse indications for implanting the Artificial Iris®. Hereby, a gain in visual acuity is not invariably the primary objective but more often reduction of glare as well as cosmetic rehabilitation, as the eyes are severely damaged in many cases. The long-term results are currently being analyzed in a study and will soon be published.

To control the development of the ocular phenotype, several coordinated steps of temporally- and spatially-organized networked triggers (inductions) are necessary. This is regulated at the level of transcription. Crucial here are the so-called master genes or DNA-binding transcription factors PAX6, FOXC1, SOX2, FOXE3, OTX2, PITX2 and PAX2. Depending on the disease phenotype, it is possible to conclude on the gestational period in which ocular development was profoundly disrupted. The so-called neural crest cells contribute significantly to the development of eye structures, especially of the anterior segment. The review first presents a brief overview of the embryologic development of ocular structures and then describes major profound developmental disorders of the eyes: phenotypic and genetic features in the MAC spectrum (microphthalmia, anophthalmia, coloboma) as well as anterior segment dysgenesis (Axenfeld-Rieger spectrum, aniridia, Peters anomaly). It also outlines the systemic involvement of these diseases. In clinical and genetic diagnostic pathways, the determining factor is the exact phenotypic characterization that must be preceded by any genetic diagnosis and the further choice of diagnostic options. "Shotgun diagnostics" on all of the described genes involved in ocular developmental disorders is costly and less effective than a phenotypically-oriented selection of the genes common to the phenotypical syndrome described, and only then should it be followed by the analysis of rarer genes in a second or third molecular genetic step.Zur Steuerung der Entwicklung des okulären Phänotyps sind mehrere aufeinander abgestimmte Schritte von zeitlich und räumlich organisierten vernetzten Auslösern (Induktionen) notwendig. Dies wird auf dem Niveau der Transkription reguliert. Entscheidend sind hier die sog. Mastergene oder DNA-bindende Transkriptionsfaktoren PAX6, FOXC1, SOX2, FOXE3, OTX2, PITX2 und PAX2. Abhängig vom Phänotyp kann auf die Gestationszeit geschlossen werden, in der die okuläre Entwicklung tiefgreifend gestört wurde. Die Neuralleistenzellen tragen wesentlich zur Entwicklung der Augenstrukturen, insbesondere der vorderen Augenabschnitte, bei. Der Beitrag gibt zunächst einen kurzen Überblick über die embryonale Entwicklung okulärer Strukturen und stellt dann die tiefgreifenden Entwicklungsstörungen der Augen vor: phänotypische und genetische Besonderheiten beim MAC-Spektrum (Mikrophthalmie, Anophthalmus, Kolobom) sowie bei Vorderabschnittsdysgenesien (Axenfeld-Rieger-Spektrum, Aniridie, Peters-Anomalie) und skizziert die bei diesen Erkrankungen auftretenden systemischen Beteiligungen. Bei der klinischen und genetischen Diagnostik ist der entscheidende Faktor die genaue phänotypische Charakterisierung, die jeder genetischen Diagnostik vorangestellt werden muss und nach der sich die Auswahl der diagnostischen Optionen richtet. Eine „Schrotschussdiagnostik“ auf alle beschriebenen Gene, die bei der embryonalen Augenbildung beteiligt sind, ist kostenintensiv und weniger effektiv als eine phänotypisch orientierte Selektion der für das beschriebene Erkrankungsbild häufigen Gene, gefolgt von den selteneren Genen in einem 2. oder 3. molekulargenetischen Schritt.

Background. Iris defects are mostly acquired after injury, or may be iatrogenic after surgical excision of iris tumours or the result of collateral trauma after anterior segment surgery. They cause severe visual disability, e.g. glare, loss of contrast sensitivity, and loss of best corrected visual acuity. The foldable Koch iris prosthesis has a customised iris design and may be used to reconstruct the anterior segment in patients with partial or complete aniridia. History and Signs. We present the surgical management and clinical course of 6 patients with traumatic iris defects, together with 3 patients with partial aniridia after cataract surgery. Cataract surgery and implantation of an artificial iris were performed in 2 female patients (3 eyes) with congenital aniridia syndrome. Therapy and Outcome. No patient exhibited complications in the postoperative course, with the exception of various intraocular pressure peaks due to secondary glaucoma, that were all corrected by medication to lower topical pressure. Conclusions. In patients with major iris defects, the artificial iris allows functionally and aesthetically satisfactory reconstruction of the anterior segment.

Background. Iris defects are mostly acquired after injury, or may be iatrogenic after surgical excision of iris tumours or the result of collateral trauma after anterior segment surgery. They cause severe visual disability, e.g. glare, loss of contrast sensitivity, and loss of best corrected visual acuity. The foldable Koch iris prosthesis has a customised iris design and may be used to reconstruct the anterior segment in patients with partial or complete aniridia. History and Signs. We present the surgical management and clinical course of 6 patients with traumatic iris defects, together with 3 patients with partial aniridia after cataract surgery. Cataract surgery and implantation of an artificial iris were performed in 2 female patients (3 eyes) with congenital aniridia syndrome. Therapy and Outcome. No patient exhibited complications in the postoperative course, with the exception of various intraocular pressure peaks due to secondary glaucoma, that were all corrected by medication to lower topical pressure. Conclusions. In patients with major iris defects, the artificial iris allows functionally and aesthetically satisfactory reconstruction of the anterior segment.

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. endocrine, metabolic and neurological pathologies). Therefore, PAX6-related aniridia is more and more considered to be and described as aniridia syndrome or PAX6 syndrome.We present a group of 130 patients with congenital aniridia to enhance awareness of the complexity of the disease. Different to other congenital visual impairments aniridia is characterized by many ocular complications arising during the lifetime which may lead to total blindness (e.g. cataract, aniridic keratopathy and secondary glaucoma). Furthermore, there is a specific surgical risk entity: aniridia fibrosis syndrome and anterior segment fibrosis syndrome (ASFS) which lead to a non-infectious fibrous scarring and membrane formation of the anterior segment, often followed by hypotonia and phthisis. Aniridic glaucoma presents yet another severe complication which is often diagnosed late due to diagnostic problems and which may lead to irreversible optic nerve damage.The following approaches might help to improve the lifelong care of aniridia patients and might benefit the aim to lessen the impact of complications in aniridia: topical prophylaxis of aniridic corneal epitheliopathy from a very early age, regular measurement of intraocular pressure starting in young children, annual visual evoked potential (VEP) measurements and routine visual field testing as soon as possible, comprehensive optimization of surgical care independent of department location (only the very best surgeons within their subspecialty should treat the different complications) while one experienced pediatric and low vision ophthalmologist should follow the patient continuously ("aniridia guide" for the patient), thus monitoring the disease and stages of complications and advising the patient where to go for surgical treatment. This low vision ophthalmologist continuously follows the patient's course including adaptation of low vision aids according to the course of the disease, helping the patient concerning integration at school and at the place of work and advising about social and legal compensation possibilities. In addition, the guiding ophthalmologist should inform patients with aniridia about possible systemic manifestations of PAX6 syndrome concerning metabolic and neurological implications and should initiate appropriate investigations when applicable.

The main reasons for the markedly reduced visual acuity in pediatric patients with congenital aniridia are foveal dysplasia and optic nerve hypoplasia. During the lifetime a lack of depth of focus and increased sensitivity to glare due to a partly or completely lacking iris may be accompanied by further complications such as cataracts, various types of glaucoma and corneal opacity.In principal, microsurgical intervention should be as minimally invasive as possible to avoid excessive intraocular fibrosis. It is not advisable to use any type of esthetic iris substitute in phakic eyes. Cataract surgery should be performed via small incisions with a foldable intraocular lens (IOL) but not by using a 10 mm diameter polymethyl methacrylate (PMMA) anirida IOL. The conservative therapy of the often progressive limbal stem cell deficiency of the cornea includes artificial tears containing unpreserved hyaluronic acid, gels, autologous serum and amniotic membrane transplantation. Limbal transplantation of various kinds with and without penetrating keratoplasty and the Boston keratoprothesis type I should be considered only in cases of significant reduction of visual acuity and/or recurrent epithelial defects. Glaucoma surgery should be performed primarily as trabeculotomy. Drainage devices (e.g. Ahmed valve) are suggested as a second line approach. The risk of scarring of the filtering bleb in trabeculectomy with mitomycin C is very high in childhood and adolescence.The stage-related therapy of congenital aniridia should always be based on a global view of the potentially increasing severity of cataract, glaucoma and corneal limbal stem cell deficiency during the lifetime. Each microsurgical intervention should be performed by the appropriate specialist and should be kept as minimally invasive as possible.

Mutations in the PAX6 gene mostly cause non-syndromic aniridia with autosomal dominant inheritance and familial occurrence. The underlying point mutations and deletions in the PAX6 locus cause loss-of-function of one gene copy (haploinsufficiency). Mutations with residual PAX6 function often result in milder disease expression but may also cause distinct and more severe ocular phenotypes. Combined deletion of PAX6 and the adjacent WT1 tumor suppressor gene causes Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome with a high risk for Wilms tumors in infancy.Genetic diagnostics are important for confirming the clinical diagnosis, for the assessment of the risk of recurrence and early recognition of children with associated tumor risk.Sequencing of the PAX6 gene and quantitative analysis of the PAX6 locus allow for efficient molecular genetic evaluation of the clinical diagnosis of both isolated and syndromic aniridia. In cases of clinical overlap with other entities, high-throughput sequencing of multiple additional genes can simultaneously cover genes for differential diagnoses (e.g. microphthalmia syndromes). Optimal care of aniridia patients requires close cooperation of ophthalmologists and medical geneticists.

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.

Aniridia or iris deficiencies can severely affect visual function in mostly younger patients and should therefore be corrected. Currently various technical options for the treatment of iris deficiencies are available. The present review considers the main causes of aniridia and the incidence and summarizes the negative effects on visual function. A brief historical overview of the development of prosthetic iris devices is given. Currently available prosthetic iris devices, mainly iris diaphragm lenses and segmental prosthetic iris devices, are presented along with the specific advantages and disadvantages. The management of patients with iris deficiencies is often challenging due to the great heterogeneity and complexity of the underlying ocular problems. Thus an individual approach considering the often difficult pathological situation is mandatory. However, some universally valid recommendations for the implantation of prosthetic iris devices can be given. The literature from 2000 onward is reviewed and all articles on implantation of prosthetic iris devices are evaluated. The results are discussed and also summarized in a table.

The flexible iris prosthesis according to Koch with a customized iris design serves for anterior segment reconstruction in patients with partial or complete aniridia. It is designed for implantation in the ciliary sulcus and is recommended only for pseudophakic or aphakic eyes. The multilayered implant consists of a core of a silicone matrix with incorporated color pigment coated with another layer of medical grade silicone. As a design variant the implant is available with or without an additionally embedded tissue layer. Without tissue the implant is more flexible, can be easily folded and perfectly adapts to the anatomical course of the sulcus. In contrast, implants with tissue show a greater rigidity and provide a better grip for sutures. This article describes various techniques for implantation of partial and full prostheses and gives instructions for calculating the implant size. Full prostheses can be combined with other reconstructive measures, such as sutured intraocular lenses and are particularly helpful in silicone oil surgery by avoiding endothelial contact. With careful consideration of the indications and application the flexible iris prosthesis is a valuable extension of the spectrum of reconstructive anterior segment surgery.

In a family cataract, esotropia and foveal hypoplasia is dominantly transmitted.Besides the physical examination visual evoked potentials and PAX6 mutation analysis were performed on five of six affected persons and on two who were not.A man of the first generation, deceased before this study, was known to have low vision. His two daughters and their children and grandchildren suffer from cataract, esotropia and foveal hypoplasia. In two cases accompanied by aniridia and atypical iris coloboma respectively. The best visual acuity is 0.5. The VEPs taken of three of the affected people were normal. The PAX6 mutation analysis demonstrated a T to A translocation in the Intron 8 at the position + 2 (= IVS8 + 2T --A).1) This study confirms that foveal hypoplasia in the so-called isolated form have a similar origin as in aniridia namely PAX6 mutation and that it is a symptom in all cases while the iris anomaly may be variable. 2) In contrast to this foveal hypoplasia in albinism may occur variably in a family while the asymmetry of VEP is a constant finding. 3) Therefore the VEP alone is helpful to differentiate clinically wether a foveal hypoplasia belongs to the albino or to the aniridia group.

Ultrasound biomicroscopy (UBM) allows to determine the haptic position of posterior chamber lenses (PCL) in relation to adjacent structures. In transsclerally sutured PCLs, the comparison between intraoperatively endoscopically and postoperatively localized haptic positions via UBM showed a correspondence of only 81%. The different localisation of 19% of the examined haptic positions was explained with postoperative dislocation without any proof for this assumption. The purpose of this study therefore was the correlation of UBM results with simultaneously determined haptic positions via gonioscopy in aniridia after black diaphragm PCL implantation.The haptic positions of black diaphragm PCL implants in 20 patients with congenital and 13 patients with traumatic aniridia were determined via UBM (50-MHz-probe) and gonioscopy 44.4 (6-75) months postoperatively.39/66 haptic positions could be localized in gonioscopy as well as in UBM. 38 haptics (97.4%) showed the same position in both examination techniques. Determination of the haptic position through one of the two examination techniques was impossible in 27/66 haptics (11 haptics in gonioscopy, 16 haptics in UBM). Reasons for this were primarily haptic position behind iris remnants and corneal opacities in gonioscopy and scarring of the ciliary body in UBM.The validity of UBM in localization of PCLs was confirmed gonioscopically, which also confirms our prior assumption of postoperative displacement of IOL-haptics after transscleral suturing in about 20% of cases. Scarring of the ciliary body was the most important obstacle in the determination of PCL haptic positions in relation to adjacent structures.

Aniridia represents a congenital ocular disorder with partial or complete iris hypoplasia. The disorder is associated with poor vision, glaucoma, corneal and lenticular opacities, ectopia lentis due to abnormal zonula fibers, as well as optic nerve and macular abnormalities. Aniridia may present as either hereditary or sporadic cases. Some of the sporadic cases develop Wilms' tumor, frequently as part of the WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation). PAX6, a candidate gene located on chromosome 11p13, is often mutated in aniridia patients. The gene encodes a transcription regulatory protein.Analysis of the PAX6 gene was done using PCR (polymerase chain reaction), SSCP (single strand conformation polymorphism) and DNA sequencing.In 13 of 20 aniridia patients a PAX6 gene mutation was found.The mutations result in a gene product with reduced function or a reduced PAX6 protein level. Molecular analysis of aniridia is also a valuable diagnostic tool for Wilms' tumor risk evaluation, as patients with proven PAX6 mutations--in contrast to cases with large deletions of the 11p13 region--are at no increased risk to develop Wilms' tumor.

It is the purpose of this case report to present a new surgical technique for treatment of severe limbal stem cell deficiency.In a 42-year-old female patient with conjunctivalization of the cornea in congenital aniridia a homologous lamellar central limbokeratoplasty was performed. Postoperatively systemic Ciclosporin A was administered in order to prevent the transplanted limbal stem cells from immunological destruction. During the follow-up period of 16 months no immune reaction against the transplanted limbal stem cells could be observed. Visual acuity was ameliorated considerably.Homologous lamellar central limbokeratoplasty is a promising surgical procedure in selected patients with severe limbal stem cell deficiency having less complications compared with penetrating central limbokeratoplasty.

In a child with aniridia and glaucoma, a beta-receptor blocking drug was used in combination with Latanoprost. This was done because other combinations of antiglaucoma eyedrops had an insufficient pressure-reducing effect. It was very effective in reducing the pressure. However, there was a side effect: heavy sweat secretion over the entire body occurred 1-2 h after the application of Latanoprost drops. This side effect has not been described previously, and it indicates a systemic side effect of Latanoprost eyedrops. The systemic side effects of this substance are stronger then heretofore assumed, even in the case of proper local application. Therefore, one should be particularly careful in utilizing this substance, especially in children.

In this study we wanted to gain experiences with a new black diaphragm IOL concerning surgical postoperative difficulties in traumatic aniridia.Since June 1991 we have implanted the IOL prototype and the modifications into 13 eyes with traumatic aniridia. The IOL was transsclerally sutured in 11 eyes without capsular support and it was positioned in front of capsular remnants in two eyes. In eight eyes penetrating keratoplasty was necessary. The mean follow-up period was 17 (1-34) months.The seventh IOL modification can be implanted safely now. Persistent intraocular inflammation (Tyndall +) has been observed in all eyes postoperatively but it seems to disappear slowly. Its effect upon the corneal endothelium and the development of cystoid macula edema is still under investigation. Secondary glaucoma has been the greatest postoperative problem: It could be controlled medically in five eyes, surgically in two eyes, but remained uncontrolled in one eye. Implantation of the IOL improved visual acuity in 11/13 eyes.Rehabilitation of eyes with traumatic aniridia by implanting the new black diaphragm IOL still presents some unsolved problems, especially uncontrolled secondary glaucoma and prolonged intraocular inflammation. In spite of many encouraging aspects we advise to be rather cautious and self-restrictive in this group of patients.

Hitherto no attention was paid to the prebasal vitreous body in children with congenital aniridia. Obviously there are, at least occasionally, two remarkable anomalies of the anterior hyaloid membrane.Two children (one 3 years and the other 4 years old) with congenital anirida were examined in supine position at a special slitlamp in general anaesthesia. Both children were healthy besides their ocular malformation; pregnancy and delivery were unremarkable.Only the younger child showed bilaterally in symmetrical fashion a thin, circular, whitish ligament between lens zonulae and anterior hyaloid membrane (zonulo-vitreal ligament). The eyes of both children exhibited a circumferential simple detachment of the anterior hyaloid membrane in the region of the ciliary body.At least sometimes, the congenital aniridia can be associated with anomalies of the anterior hyaloid membrane: 1. Obviously the circumferential simple ciliary detachment of the anterior hyaloid membrane corresponds with the loss of physiological cilio-vitreal fibril systems. 2. The zonulo-vitreal ligament might be formed during the fetal time as a surplus connection between lens zonulae and anterior hyaloid membrane.

Total aniridia occurred after a severe blow on the eyeball of a 65 year old man. The entire iris was torn off the ciliary body and escaped out of the eye through a small corneal wound. The zonular fibres were found to be intact and the posterior parts of the eye showed no traumatic changes.

An artificial PMMA iris diaphragm is described, which is similar to an inferior iridectomy after Ando. The diaphragm can be implanted in aniridic eyes requiring silicone oil surgery. It successfully inhibits contact between the silicone oil bubble and the corneal endothelium.