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American Journal of Ophthalmology Case... Dec 2023Iris pigment deficiency in patients with oculocutaneous albinism (OCA) often causes debilitating photophobia, which is routinely managed by sequential intracapsular...
PURPOSE
Iris pigment deficiency in patients with oculocutaneous albinism (OCA) often causes debilitating photophobia, which is routinely managed by sequential intracapsular insertion of two aniridia rings. A common concern of this technique is the risk of segment interdigitation, which can lead to intraoperative complications.
OBSERVATIONS
In this report, we describe a modified technique through which both rings were stacked together and inserted simultaneously in a 62-year-old male patient with oculocutaneous albinism and a mild cataract. The patient underwent bilateral phacoemulsification followed by implantation of two Morcher 50E aniridia rings simultaneously, prior to IOL implantation behind the implants within the capsular bag. Post-operatively, the patient's photophobia improved dramatically, and there were no post-operative complications.
CONCLUSIONS AND IMPORTANCE
Simultaneous insertion of two stacked aniridia rings prior to IOL implantation was a safe and successful alternative surgical method for the management of photophobia in patients with oculocutaneous albinism and cataracts.
PubMed: 37711752
DOI: 10.1016/j.ajoc.2023.101921 -
Arquivos Brasileiros de Oftalmologia 2023A 38-year-old patient who developed aphakia and aniridia secondary to trauma suffered from vision loss. To improve her vision, an iris-intraocular lens complex (Reper®)...
A 38-year-old patient who developed aphakia and aniridia secondary to trauma suffered from vision loss. To improve her vision, an iris-intraocular lens complex (Reper®) was fixed to the sclera with Canabrava's double-flanged technique. There was a satisfactory increase in the patient's visual acuity and no complications were observed during the 6-months follow-up. Canabrava technique simplifies and improves the fixation of the iris-intraocular lens complex to the sclera. It is a safe option that does not require scleral flaps or knots.
Topics: Humans; Female; Adult; Lens Implantation, Intraocular; Sclera; Suture Techniques; Lenses, Intraocular; Iris; Retrospective Studies
PubMed: 35544930
DOI: 10.5935/0004-2749.20230060 -
Graefe's Archive For Clinical and... Mar 2024To provide insights into morphologic and functional features of eyes with complicated Descemet's membrane detachment (DMD) and report clinical outcomes after surgical...
PURPOSE
To provide insights into morphologic and functional features of eyes with complicated Descemet's membrane detachment (DMD) and report clinical outcomes after surgical intervention.
METHODS
Retrospective study of 18 eyes with complicated DMD between 2010 and 2022. Complicated DMD was defined if any of the following criteria applied: prior penetrating keratoplasty (PKP), corneal thinning, total DMD or persistent DMD after Air/Gas-Descemetopexy. Causes, surgical management, and clinical outcomes were analyzed. Scheimpflug tomography, anterior segment optical coherence tomography (AS-OCT) and histologic examination were performed to characterize corneas with DMD.
RESULTS
Fourteen eyes with prior PKP developed spontaneous DMD after 24.2 ± 12.9 years (range = 18 months - 47 years, median = 25.7 years). Complicated DMD without prior PKP was associated in three eyes after cataract surgery and in one eye after infectious keratitis. In cases with previous PKP, AS-OCT demonstrated rupture of Descemet's membrane (DM) in five eyes and spontaneous reattachment was found in four eyes within 8 weeks of initial diagnosis, with no rupture of DM in any of the cases. There was no rupture of DM in corneas without previous PKP. After prior keratoplasty, definitive surgical treatment was repeat PKP in 13 eyes and Air/Gas-Descemetopexy in one eye. In corneas without prior keratoplasty, three eyes underwent PKP and one eye Air/Gas-Descemetopexy. Histological examination of two corneal explants revealed a severely thinned graft-host junction and a disrupted DM close to the graft-host junction. Visual acuity improved from 1.80 ± 0.58 logMAR to 0.75 ± 0.69 logMAR after prior PKP and from 1.45 ± 0.65 logMAR to 0.85 ± 1.13 logMAR without prior PKP. The postoperative course was uneventful in 16 of 18 eyes.
CONCLUSION
PKP is an effective treatment option for complicated DMD, especially in ectatic corneas, whereas Air/Gas-Descemetopexy or Descemet Membrane Endothelial Keratoplasty do not address the primary issue of the curvature anomaly.
Topics: Humans; Descemet Membrane; Retrospective Studies; Cornea; Corneal Transplantation; Keratoplasty, Penetrating
PubMed: 37682334
DOI: 10.1007/s00417-023-06231-w -
BMC Ophthalmology Sep 2023To identify the disease-causing gene in a Chinese family affected with congenital aniridia.
BACKGROUND
To identify the disease-causing gene in a Chinese family affected with congenital aniridia.
METHODS
Patients underwent systematic ophthalmic examinations such as anterior segment photography, fundus photography, optical coherence tomography, and fundus fluorescein angiography. The proband was screened for pathogenic variants by whole exome sequencing (WES) and copy number variant (CNV) analysis. Real-time quantitative PCR (RT-qPCR) was applied to confirm the CNV results. Breakpoints were identified by long-range PCR followed by Sanger sequencing.
RESULTS
All seven members of this Chinese family, including four patients and three normal individuals, were recruited for this study. All patients showed bilateral congenital aniridia with nystagmus, except the son of the proband, who presented with bilateral partial coloboma of the iris. A novel heterozygous deletion (chr11:31,139,019-31,655,997) containing the 3' regulatory enhancers of the PAX6 gene was detected in this family. We also reviewed the reported microdeletions downstream of PAX6 in patients with aniridia.
CONCLUSIONS
We identified a novel microdeletion, 517 kb in size located about 133 kb downstream of the PAX6 gene, responsible for congenital aniridia in this Chinese family, which expands the spectrum of aniridia-associated mutations in PAX6.
Topics: Humans; Aniridia; East Asian People; Fluorescein Angiography; Iris; PAX6 Transcription Factor; Sequence Deletion
PubMed: 37752489
DOI: 10.1186/s12886-023-03147-1 -
American Journal of Ophthalmology Case... Dec 2023To report a case of XEN45 gel stent implantation in a pediatric patient with WAGR syndrome as a successful surgical intervention in the management of multifactorial...
PURPOSE
To report a case of XEN45 gel stent implantation in a pediatric patient with WAGR syndrome as a successful surgical intervention in the management of multifactorial secondary open-angle glaucoma.
OBSERVATIONS
A 6-year-old female with a history of WAGR syndrome, bilateral congenital aniridia, pseudophakia OD and glaucoma OD, was referred for a XEN45 gel stent OD. IOP was persistently elevated at 24 mm Hg despite two glaucoma medications. Implantation of the XEN45 gel stent was performed using a transconjunctival ab externo approach. There were no significant intra-or-postoperative adverse events associated with the stent. The patient achieved good IOP-lowering control without glaucoma medications across the 18-month follow-up period.
CONCLUSIONS
A XEN45 stent through a transconjunctival ab externo approach may be an effective surgical intervention in pediatric patients with secondary open-angle glaucoma associated with aniridia and aphakia.
PubMed: 37533700
DOI: 10.1016/j.ajoc.2023.101888 -
Pathogens (Basel, Switzerland) May 2024Emerging and re-emerging parasitic diseases can cause significant economic burdens at national and global levels. However, governments often underestimate or ignore...
Emerging and re-emerging parasitic diseases can cause significant economic burdens at national and global levels. However, governments often underestimate or ignore these diseases, especially in developed countries. This retrospective, case-oriented study analyzed parasitic diseases reported in Taiwan between 2001 and 2018. One hundred and thirty-two eligible clinical profiles of Taiwanese patients obtained from the NCBI, Scopus, Google Scholar, and Web of Science databases and local journals according to age, sex, source of infection, symptoms, risk factors, and geographical regions were analyzed. The analysis results showed that the number/frequency of cases caused by nematodes (46.97%) or protozoa (37.88%) was significantly higher than that of trematodes (9.85%) or cestodes (5.30%) ( < 0.0001). Northern Taiwan (46.97%) had a significantly higher rate than Southern Taiwan (33.33%), Central Taiwan (8.33%), and Eastern Taiwan (5.30%) ( < 0.05). The 15-65 age group (68.94%) had a significantly higher rate than the 65-90 age group (22.73%) and the 0-15 age group (8.33%) ( < 0.0001). Males (70.46%) had a significantly higher number/frequency of cases than females (29.54%) ( < 0.0001). People who acquired the infection through the food/soil route (32.58%) or who had a low immune status (32.58%) had a higher rate than travel-related infections (15.15%) ( < 0.001). The present study showed that emerging/reemerging parasitic infections continue to be of great concern to the lives and health of Taiwanese citizens and, if ignored, will threaten the health of the Taiwanese people; therefore, the delineation of preventive measures by health authorities is urgently warranted.
PubMed: 38787235
DOI: 10.3390/pathogens13050383 -
Journal of Vitreoretinal Diseases 2023To assess the impact of retinal thickness variability (RTV) control on visual and treatment burden outcomes in patients with diabetic macular edema (DME) who received...
To assess the impact of retinal thickness variability (RTV) control on visual and treatment burden outcomes in patients with diabetic macular edema (DME) who received the 0.19 mg fluocinolone acetonide (FAc) intravitreal implant (Iluvien, Alimera Sciences). This post hoc analysis examined the outcomes of a 3-year, phase 4, nonrandomized, open-label observational study. Retinal thickness was measured as central subfield thickness (CST). RTV was quantified by CST area under the curve (CST-AUC), retinal thickness amplitude (RTA), and retinal thickness standard deviation (RTSD). Visual outcomes were measured as best-corrected visual acuity (BCVA), and treatment burden was measured as the number of yearly supplemental DME treatments. The percentage of eyes with a CST ≤300 µm fluctuated throughout the study but was significantly increased relative to baseline at 36 months (baseline: 32.9% vs 36 months: 46.8%; < .05). FAc significantly reduced RTV in all measures more than 36 months ( < .0001). When divided into quartiles, eyes with the best RTV control post FAc had the greatest BCVA gains and improved disease control (ie, reduced need for supplemental therapy). The last-observed BCVA letter score exhibited linear correlations with CST-AUC ( = -0.100), RTA ( = -0.125), and RTSD ( = -0.162). A multivariate linear regression with baseline BCVA as a covariate displayed improved correlations with the last-observed BCVA, CST-AUC ( = -0.448), RTA ( = -0.432), and RTSD ( = -0.436). The sustained corticosteroid release of the 0.19 mg FAc implant reduced RTV in patients with DME, which directly correlated with significantly improved vision and a reduced supplemental treatment burden.
PubMed: 37974917
DOI: 10.1177/24741264231201314 -
Journal of Human Genetics Jun 2024Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior segment dysgenesis (ASD), have created challenges for proper diagnosis and...
Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior segment dysgenesis (ASD), have created challenges for proper diagnosis and classification of diseases. Over the last decade, genomic research has indeed boosted our understanding in the molecular basis of ASD and genes associated with both autosomal dominant and recessive patterns of inheritance have been described with a wide range of expressivity. Here we describe the molecular characterization of a cohort of 162 patients displaying isolated or syndromic congenital ocular dysgenesis. Samples were analyzed with diverse techniques, such as direct sequencing, multiplex ligation-dependent probe amplification, and whole exome sequencing (WES), over 20 years. Our data reiterate the notion that PAX6 alterations are primarily associated with ASD, mostly aniridia, since the majority of the cohort (66.7%) has a pathogenic or likely pathogenic variant in the PAX6 locus. Unexpectedly, a high fraction of positive samples (20.3%) displayed deletions involving the 11p13 locus, either partially/totally involving PAX6 coding region or abolishing its critical regulatory region, underlying its significance. Most importantly, the use of WES has allowed us to both assess variants in known ASD genes (i.e., CYP1B1, ITPR1, MAB21L1, PXDN, and PITX2) and to identify rarer phenotypes (i.e., MIDAS, oculogastrointestinal-neurodevelopmental syndrome and Jacobsen syndrome). Our data clearly suggest that WES allows expanding the analytical portfolio of ocular dysgenesis, both isolated and syndromic, and that is pivotal for the differential diagnosis of those conditions in which there may be phenotypic overlaps and in general in ASD.
Topics: Humans; Exome Sequencing; PAX6 Transcription Factor; Male; Female; Eye Abnormalities; Phenotype; Anterior Eye Segment; Mutation; Eye Diseases
PubMed: 38459225
DOI: 10.1038/s10038-024-01237-6 -
Medicina (Kaunas, Lithuania) May 2024Different techniques for artificial iris implantation with or without an intraocular lens, depending on lens status, are described in the literature. We describe a...
Different techniques for artificial iris implantation with or without an intraocular lens, depending on lens status, are described in the literature. We describe a surgical technique for a custom-made artificial iris and toric-intraocular lens intrascleral flange fixation. We modified the "Backpack" artificial iris implantation surgical technique to facilitate an accurate alignment of the toric-intraocular lens in a patient with aphakia, aniridia, and high asymmetric astigmatism secondary to blunt trauma. Two months after the surgery, uncorrected visual acuity was 20/30, corrected to 20/25 with a refraction of -2.00 in the diopter sphere with no residual astigmatism. The artificial iris implant and toric-intraocular lens were well-centered. The patient was satisfied with the visual and cosmetic outcomes. This procedure, however, is not complication-free as our patient developed uveitis and increased intraocular pressure during the postoperative period, which was treated successfully.
Topics: Humans; Iris; Lenses, Intraocular; Sclera; Lens Implantation, Intraocular; Visual Acuity; Astigmatism; Male; Aniridia; Female
PubMed: 38929482
DOI: 10.3390/medicina60060865 -
BMC Ophthalmology Apr 2024Aniridia is a rare eye disorder with a high incidence of glaucoma, and surgical intervention is often needed to control the intraocular pressure (IOP). Here, we reported... (Review)
Review
BACKGROUND
Aniridia is a rare eye disorder with a high incidence of glaucoma, and surgical intervention is often needed to control the intraocular pressure (IOP). Here, we reported a case of illuminated microcatheter-assisted circumferential trabeculotomy (MAT) performed on an aniridic glaucoma patient following a previous failed angle surgery. The surgical procedures for aniridic glaucoma were also reviewed.
CASE PRESENTATION
A 21-year-old man, diagnosed with aniridic glaucoma, came to our hospital consulting for the poor control of left eye's IOP despite receiving goniotomy surgery 3 years ago. The IOP was 26 mmHg with maximum topical antiglaucoma eyedrops. The central cornea was opaque and the majority of iris was absent. The gonioscopy and ultrasound biomicroscopy (UBM) demonstrated that 360° anterior chamber angle was closed. The whole exome sequencing of peripheral blood confirmed a 13.39 Mb copy number loss at chromosome 11p15.1p13, containing PAX6 and WT1 gene. The 360° MAT surgery was performed on his left eye. At 1-year follow-up, the IOP was 19mmHg with 2 kinds of topical antiglaucoma medications, and the postoperative UBM demonstrated the successful incision of the anterior chamber angle.
CONCLUSIONS
The case presented here exhibited a case of aniridic glaucoma treated by MAT surgery. The MAT surgery may be an effective option for IOP control in aniridic glaucoma patients following a previous failed angle surgery.
Topics: Humans; Male; Young Adult; Aniridia; Follow-Up Studies; Glaucoma; Gonioscopy; Intraocular Pressure; PAX6 Transcription Factor; Retrospective Studies; Trabeculectomy; Treatment Outcome
PubMed: 38594720
DOI: 10.1186/s12886-024-03425-6