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Edward J. Holland - One of the best experts on this subject based on the ideXlab platform.
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surgical and visual outcomes of the type i boston keratoprosthesis for the management of aniridic fibrosis syndrome in congenital Aniridia
American Journal of Ophthalmology, 2012Co-Authors: Pejman Bakhtiari, Edward J. Holland, Clara C Chan, Jeffrey D Welder, Jose De La Cruz, Ali R DjalilianAbstract:Purpose To report the clinical features and surgical management of aniridic fibrosis syndrome using the type I Boston Keratoprosthesis (KPro). Design Interventional case series. Methods Retrospective chart review of 9 eyes in 9 patients with congenital Aniridia that developed aniridic fibrosis syndrome. Results All patients had clinical diagnosis of congenital Aniridia. Previously, all patients had undergone cataract surgery with posterior chamber intraocular lens (IOL) implantation and 7 patients had existing tube shunts. In all cases, fibrosis presented as progressive retrocorneal and retrolenticular membrane formation causing displacement of the IOL and secondary corneal decompensation. Two eyes had tractional folds in the retina with posterior extension of the membrane. The management included IOL explantation in 7 of 9 cases, removal of fibrosis with pars plana vitrectomy in all 9 patients, and implantation of a type I Boston KPro in all eyes. At a mean final follow-up of 26.1 months (range 6 to 48 months), vision remained improved in all patients. No patient had recurrence of the fibrotic membrane after KPro implantation. Conclusion This study represents another case series describing aniridic fibrosis syndrome and the largest study to report utilization of the type I Boston KPro in such patients. As the fibrosis can cause IOL dislocation, corneal decompensation, hypotony, and retinal detachment, monitoring for aniridic fibrosis syndrome in congenital Aniridia with early surgical intervention is recommended. Type I Boston KPro may be considered in the surgical treatment of this condition.
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congenital Aniridia variant minimally abnormal irides with severe limbal stem cell deficiency
Ophthalmology, 2011Co-Authors: Heather M Skeens, Brian P Brooks, Edward J. HollandAbstract:Purpose To clinically and molecularly characterize a group of patients with progressive limbal stem cell deficiency (LSCD) due to aniridic keratopathy (AK), but with minimally affected irides. Design Retrospective case series. Participants A total of 12 eyes of 6 patients who underwent keratolimbal allograft (KLAL) for AK in the absence of the classic stigmata of Aniridia at the Cincinnati Eye Institute/University of Cincinnati between 2000 and 2007. Methods Retrospective chart review. Main Outcome Measures Ocular surface stability after KLAL and change in visual acuity. Results Subjects' mean age was 32.57 years, 66% were female, and mean follow-up was 64.4 months (range, 20–115 months). All patients presented with a decline in their vision secondary to LSCD. Average preoperative best-corrected visual acuity (BCVA) logarithm of the minimum angle of resolution (logMAR) was 1.4 (range, 0.10–2.8). All patients had minimally affected irides with subtle abnormal findings, including ectropion uveae and stromal atrophy. All patients developed severe LSCD and required KLAL. Average postoperative logMAR BCVA was 0.35 (range, 0.00–1.00). All ocular surfaces remained stable throughout the follow-up period. Family history consistent with autosomal dominant inheritance was positive in 4 of 6 patients. PAX6 genetic testing identified 2 pathologic mutations and 1 possible disease-causing variant. Conclusions Aniridic keratopathy may present in the absence of other classic stigmata of Aniridia and be associated with minimally affected irides. A subset of these patients has definitive mutations in PAX6 and once identified can be counseled appropriately. These patients respond well to KLAL and may therefore benefit from early detection. Financial Disclosure(s) The author(s) have no proprietary or commercial interest in any materials discussed in this article.
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a progressive anterior fibrosis syndrome in patients with postsurgical congenital Aniridia
American Journal of Ophthalmology, 2005Co-Authors: Julie H Tsai, Gary S. Schwartz, John M Freeman, Chichao Chan, Elizabeth Derby, Michael R Petersen, Edward J. HollandAbstract:Purpose To report the characteristics of a newly recognized clinical entity in congential Aniridia that we have termed aniridic fibrosis syndrome . Design Interventional case series. Methods Retrospective chart review of 155 eyes in 80 patients with congenital Aniridia was carried out to identify and characterize eyes that had anterior chamber fibrosis. Histopathologic evaluation was performed in three eyes. Results Seven eyes in six patients were identified to have aniridic fibrosis syndrome. All eyes had undergone previous intraocular anterior segment surgery, some eyes with multiple procedures. Seven eyes had undergone cataract surgery with posterior chamber intraocular lens; six eyes had undergone previous implantation of tube shunt devices, and four eyes had undergone previous penetrating keratoplasty. Clinically, the syndrome was characterized by a progressive retrolenticular and retrocorneal membrane that caused forward displacement of intraocular lenses. Surgical findings indicated that the fibrotic membrane also can involve the ciliary body and anterior retina. Histopathologic evidence from three eyes indicated that the extensive fibrotic tissue originated from the root of the rudimentary iris and entrapped the intraocular lens haptics. Endothelial decompensation that was subsequent to the formation of the aniridic fibrosis syndrome was seen in all eyes. Conclusion Aniridic fibrosis syndrome is characterized by the development of a progressive anterior chamber fibrosis. A possible mechanism that promotes the formation of this fibrotic material may be the proximity or touching of intraocular devices on immature vessels in the rudimentary iris found in Aniridia. Patients with Aniridia with a history of penetrating keratoplasty, intraocular lenses, and tube shunts should be monitored for aniridic fibrosis syndrome; early surgical intervention is recommended.
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Keratopathy in congenital Aniridia.
Ocular Surface, 2003Co-Authors: Kristine L. Mayer, Michael L. Nordlund, Gary S. Schwartz, Edward J. HollandAbstract:Abstract Although the most apparent clinical finding in Aniridia is the absence of iris tissue, additional ocular structures are often affected. Mutations of the Pax 6 gene, which is important for eye development, have been identified in families with members affected by Aniridia. Poor vision in aniridic eyes may be the result of macular hypoplasia, nystagmus, amblyopia, cataracts, glaucoma, and corneal disease, termed aniridic keratopathy. Advances in surgical techniques have improved management of some of the visually disabling manifestations of Aniridia, but aniridic keratopathy remains a significant source of visual loss. We have conducted a large, retrospective study of patients with Aniridia to gain information about the natural course of aniridic keratopathy. In this paper, we report the results of our study, as well as findings reported in the literature. Penetrating keratoplasty alone has not been a successful treatment for severe stromal scarring, as it does not treat the underlying epithelial causes of corneal disease. However, it has been successful in corneas that have achieved stable epithelium following limbal stem cell transplantation.
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management of aniridic keratopathy with keratolimbal allograft a limbal stem cell transplantation technique
Ophthalmology, 2003Co-Authors: Edward J. Holland, Ali R Djalilian, Gary S. SchwartzAbstract:Abstract Objective Aniridic keratopathy is a major cause of vision loss in patients with Aniridia. Penetrating keratoplasty has been proven ineffective for the long-term treatment of this disorder because it does not address the stem cell deficiency that is the primary etiologic factor. We evaluated the role of keratolimbal allograft (KLAL), a stem cell transplantation technique, for the treatment of patients with aniridic keratopathy. Design Retrospective noncomparative interventional case series. Participants Thirty-one eyes of 23 patients with aniridic keratopathy. Intervention KLAL. Main outcome measures Ocular surface stability, visual acuity, and success of subsequent penetrating or lamellar keratoplasty. Results Thirty-one eyes of 23 patients were treated with KLAL and followed up for 12 to 117 months (mean, 35.7 months). Twenty-three eyes (74.2%) achieved a stable ocular surface. Overall, the mean visual acuity improved from 20/1000 to 20/165. Twenty eyes (64.5%) underwent subsequent penetrating keratoplasty. Fourteen corneal transplant grafts (70.0%) were successful, and six (30.0%) failed. Nineteen (90.5%) of 21 eyes receiving systemic immunosuppression obtained a stable ocular surface, whereas only 4 (40.0%) of 10 eyes not receiving systemic immunosuppression achieved ocular surface stability ( P Conclusions KLAL is effective in treating aniridic keratopathy. Patients receiving systemic immunosuppression have a greater likelihood of achieving ocular surface stability and improved visual acuity compared with those who receive only topical immunosuppression.
P. Alessandro Mutolo - One of the best experts on this subject based on the ideXlab platform.
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Combined pars plana vitrectomy and artificial iris diaphragm implant after globe rupture
Graefe's Archive for Clinical and Experimental Ophthalmology, 2008Co-Authors: Tommaso Rossi, Barbara Boccassini, Mario Iossa, Guido Lesnoni, Maria Giulia Mutolo, P. Alessandro MutoloAbstract:Background Retinal detachment (RD) associated with Aniridia due to globe rupture (GR) is an uncommon condition with a severe prognosis. Surgical technique must address anterior and posterior segment issues secondary to the altered compartmentalization and increased risk for corneal toxicity. The purpose of this paper is to report a series of GR patients undergoing combined pars plana vitrectomy (PPV) and artificial iris diaphragm (AID) implant for the repair of RD associated to Aniridia. Methods The authors retrospectively reviewed 12 consecutive patients operated on by a single surgeon. Surgery consisted of a standard three-port PPV with extensive bimanual dissection of vitreous base and ciliary body membrane and combined AID implant. Office visits included Snellen visual acuity (VA), intraocular pressure measurement, biomicroscopy and indirect ophthalmoscopy. AID prosthesis included aniridic IOLs, Heimann’s PMMA and silicone diaphragm. Results Mean age was 53 years and mean follow-up was 19 months. At the end of follow-up, seven patients gained more than two lines (58.3%), two lost their vision (16.6%) and three were unchanged (25%). Seven patients (58.3%) had a VA better than 20/400 and one (8%) 20/40 vision. Eight patients (66.6%) retained a clear cornea, two (16.6%) had minimal corneal oedema and two (16.6%) corneal decompensation. Implanted prosthesis included two silicone diaphragms, four PMMA diaphragms and six aniridic IOLs. After an average 1.6 operations, the retina was completely attached in six patients (50%), partially attached in four (33.3%) and detached in two (16.6%). Conclusion RD associated to GR carries a guarded prognosis both due to RD complexity and hypotony. The combined repair of RD and Aniridia after GR offers the advantage of addressing all issues at one time allowing correct eye compartmentalization and better tamponade effect. Successful anatomical and functional results can be achieved although multiple surgeries are often needed.
Lixin Xie - One of the best experts on this subject based on the ideXlab platform.
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Long term complications of black diaphragm Aniridia intraocular lens implant in traumatic Aniridia
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology, 2009Co-Authors: Xiao-guang Dong, Jun Cheng, Lixin XieAbstract:Objective To analyze long-term complications of black diaphragm Aniridia intraocular lens (IOL) implant in traumatic aniridaia and to investigate the causes and precautionary measures.Methods This is a retrospective consecutive case study.Five traumatic Aniridia cases undertaken black diaphragm Aniridia IOL implantation in Shandong Eye Institute and Hospital and developed severe complications during long-term follow-up were analyzed, including 4 males and 1 female, averaged 26.8ears old.The follow-up time varied from 42 months to 108 months.Two cases had implantation of a secondary black diaphragm IOL after pars plana vitrectomy.Two cases had implantation of a black diaphragm IOL together with cataract extraction.One case implanted a black diaphragm IOL only.Results All patients felt well within a short period after the surgery, symptoms of glare and photophobia were improved.A better visual acuity was obtained in a short-term period.However, severely secondary glaucoma and bullous keratopathy occurred in the long-term follow up.Visual acuity decreased to counting finger or hand motion.All cases received penetrating keratoplasty and IOL explantation.Conclusions Black diaphragm Aniridia intraocular lens implantation may induce severe long-term complications.The indications should be selected seriously and closely follow-up is important. Key words: Aniridia; Black diaphragm intraocular lens; Eye injuries
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black diaphragm intraocular lens implantation in aphakic eyes with traumatic Aniridia and previous pars plana vitrectomy
Journal of Cataract and Refractive Surgery, 2003Co-Authors: Xiao-guang Dong, Lixin XieAbstract:Purpose: To evaluate the efficacy of secondary black diaphragm intraocular lens (IOL) implantation in aphakic eyes with traumatic Aniridia and previous pars plana vitrectomy (PPV). Setting: Shandong Eye Institute and Hospital, Qingdao, China. Methods: This retrospective study comprised 15 aphakic eyes with Aniridia and no vitreous that had implantation of a secondary black diaphragm IOL 6 to 72 months after PPV. The PPV was performed as a result of trauma to the posterior segment. Before implantation of the IOL, all patients had reduced visual acuity from aphakia and intolerable glare from Aniridia. Eyes were aphakic as a result of previous extracapsular cataract extraction (1 eye), lens extrusion during trauma (3 eyes), or simultaneous cataract lensectomy during PPV (11 eyes). Significant iris defects were present, with 9 eyes being aniridic after the injury. The mean follow-up was 17 months (range 3 to 34 months). The postoperative visual acuity, intra- ocular pressure (IOP), endothelial cell density, IOL centration, and intraocular inflammation were monitored. Results: All 15 eyes had improved visual acuity and marked glare reduction after IOL implantation. No major IOL decentration was seen. Five patients had increased IOP 3 to 5 days after IOL implantation; 3 were known to have secondary glaucoma from trauma before surgery and their IOP was controlled preoperatively (< 21 mm Hg) with timolol 0.5% eyedrops. The other 2 patients had normal- appearing angles, and 1 was diagnosed with hemolytic glaucoma after IOL insertion. Postoperative elevated IOP was controlled by timolol eyedrops (4 eyes) or selective laser trabeculoplasty (1 eye). Hyphema was seen in 1 patient on the first day after IOL implantation, but no further bleeding was noted. Vitreous hemorrhage was seen the first day after IOL insertion in 2 patients. One resolved without sequelae; the other required vitreous washout. Retinal detachment and cystoid macular edema did not occur in any patient. Conclusions: Black diaphragm IOL implantation can be considered in eyes with coexisting aphakia and Aniridia and without vitreous. Intraoperative IOP regulation is crucial in vitrectomized eyes to prevent complications such as expulsive hemorrhage. In general, visual function was better after IOL insertion as a result of better visual acuity and glare reduction. Although this IOL appears to be safe, long-term results must be assessed in studies with a longer follow-up and a larger study group.
Erlend Christoffer Sommer Landsend - One of the best experts on this subject based on the ideXlab platform.
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pax6 genotypic and retinal phenotypic characterization in congenital Aniridia
Investigative Ophthalmology & Visual Science, 2020Co-Authors: Hilde Rogeberg Pedersen, Rigmor C Baraas, Erlend Christoffer Sommer Landsend, Oygunn Aass Utheim, Tor Paaske Utheim, Stuart J Gilson, Maureen NeitzAbstract:Purpose To investigate the association between PAX6 genotype and macular morphology in congenital Aniridia. Methods The study included 37 participants (15 males) with congenital Aniridia (aged 10-72 years) and 58 age-matched normal controls (18 males). DNA was isolated from saliva samples. PAX6 exons, intron/exon junctions, and known regulatory regions were amplified in PCR and sequenced. Multiplex ligation-dependent probe amplification (MLPA) was performed to detect larger deletions or duplications in PAX6 or known cis-regulatory regions. Spectral-domain optical coherence tomography images were acquired and segmented semiautomatically. Mean thicknesses were calculated for inner and outer retinal layers within the macula along nasal and temporal meridians. Results Mutations in PAX6 or regulatory regions were found in 97% of the participants with Aniridia. Foveal hypoplasia was observed in all who had a mutation within the PAX6 gene. Aniridic eyes had thinner outer retinal layers than controls, but with large between-individual variation (mean ± SD, 156.3 ± 32.3 µm vs 210.8 ± 12.3 µm, P < 0.001). Parafoveal and perifoveal inner and outer retinal layers were thinner in Aniridia. Participants with mutations in noncoding PAX6 regions had thicker foveal outer retinal layers than those with mutations in the PAX6 coding regions (P = 0.04) and showed signs of postnatal development and maturation. Mutations outside the PAX6 gene were associated with the mildest retinal phenotypes. Conclusions PAX6 mutations are associated with significant thinning of macular inner and outer retinal layers, consistent with misdirected retinal development resulting in abnormal foveal formation and reduced number of neurons in the macula, with mutations in PAX6 coding regions giving the worst outcome.
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meibomian gland dysfunction and keratopathy are associated with dry eye disease in Aniridia
British Journal of Ophthalmology, 2019Co-Authors: Hilde Rogeberg Pedersen, Erlend Christoffer Sommer Landsend, Oygunn Aass Utheim, Jiaxin Xiao, Muhammed Yasin Adil, Behzod Tashbayev, Neil LagaliAbstract: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. Moreover, slit-lamp biomicroscopy was undertaken, including grading of Aniridia-associated keratopathy (AAK). Results Mean tear film osmolarity was significantly higher (314±11 mOsmol/L) in patients with Aniridia compared with the healthy control group (303±11 mOsmol/L, p=0.002). Vital staining score was higher in the Aniridia group (4.3±3.0) compared with healthy controls (2.4±1.6, p=0.02). The degree of staining correlated positively with the stage of AAK (r=0.44, p=0.008) and negatively with corneal sensitivity (r=−0.45, p=0.012). Number of expressible MGs was lower in Aniridia subjects (2.9±1.6) than in controls (4.0±1.3, p=0.007). MG loss, staged from 0 to 3, was higher in the Aniridia group than in the control group, both in upper eyelid (0.86±0.89 vs 0.10±0.31, p=0.001) and lower eyelid (0.94±0.73 vs 0.30±0.47, p=0.003). Computerised analyses showed thinning (p=0.004) and lower density (p Conclusions Patients with congenital Aniridia demonstrate increased tear film osmolarity, ocular surface staining, loss of MGs and lower MG expressibility. We conclude that meibomian gland dysfunction and keratopathy are related to development of DED in Aniridia.
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The genetics of congenital Aniridia-a guide for the ophthalmologist.
Survey of Ophthalmology, 2018Co-Authors: Erlend Christoffer Sommer Landsend, Neil Lagali, Hilde Rogeberg Pedersen, Rigmor C Baraas, Oygunn Aass Utheim, Tor Paaske UtheimAbstract:Congenital Aniridia is a rare panocular disease caused by fundamental disturbances in the development of the eye, characterized primarily by hypoplasia of the iris and macula. Severe secondary complications such as keratopathy, cataract, and glaucoma are common and often lead to considerable visual impairment or blindness. Many complications in Aniridia patients are difficult to treat and present a challenge for the ophthalmologist. Increasingly, associated nonocular features of the disease are also being recognized. Over the past decades, major steps have been made in the understanding of the genetic basis of Aniridia. Moreover, recent studies have prepared the ground for future treatment options based on specific mutations. Therefore, specific knowledge about genetics in Aniridia has become more important than ever. We provide an overview of the field of Aniridia genetics and its clinical implications.
A V Marakhonov - One of the best experts on this subject based on the ideXlab platform.
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molecular analysis of patients with Aniridia in russian federation broadens the spectrum of pax6 mutations
Clinical Genetics, 2017Co-Authors: T A Vasilyeva, A. A. Voskresenskaya, Sergey I. Kutsev, B Kasmannkellner, O V Khlebnikova, N A Pozdeyeva, G M Bayazutdinova, E K Ginter, Elena V Semina, A V MarakhonovAbstract:Congenital Aniridia is a severe autosomal dominant congenital panocular disorder, mainly associated with pathogenic variants in the PAX6 gene. The objective of the study was to investigate the mutational and clinical spectra of congenital Aniridia in a cohort of 117 patients from Russia. Each patient underwent detailed ophthalmological examination. From 91 unrelated families, 110 patients were diagnosed with congenital Aniridia and 7 with WAGR syndrome (Wilms tumor, Aniridia, Genitourinary anomalies, and mental Retardation syndrome). The clinical presentation in Aniridia patients varied from the complete bilateral absence of the iris (75.5%) to partial Aniridia or iris hypoplasia (24.5%). Additional ocular abnormalities were consistent with previous reports. In our cohort, we saw a previously not described high percentage of patients (45%) who showed non-ocular phenotypes. Prevalence of deletions coherent with WAGR syndrome appeared to be 19.4% out of sporadic patients. Among the other Aniridia cases, PAX6 deletions were identified in 18 probands, and small intragenic changes were detected in 58 probands with 27 of these mutations being novel and 21 previously reported. In 3 families mosaic mutation was transmitted from a subtly affected parent. Therefore, PAX6 mutations explained 96.7% of Aniridia phenotypes in this study with only 3 of 91 probands lacking pathogenic variants in the gene.
