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Purpose To describe a case of traumatic soft contact lens dislocation into the vitreous space after a large-sized corneal perforation with a clout nail, causing aniridia but leaving the crystalline lens intact. Methods A case report of a Forty-four-year-old male patient with a corneal perforation. Results A patient presented with a traumatic corneal perforation after a large clout nail impacted on his left eye. Aniridia and inferior zonulolysis were seen, but the crystalline lens was perfectly clear. Since computed tomography imaging and B-scan ultrasonography showed no signs of intraocular foreign body, a vitrectomy was performed seven days after primary repair to allow for proper wound closure. During vitrectomy, a completely intact soft contact lens was found in the vitreous cavity. The soft contact lens was stained with MembraneBlue-Dual® (D.O.R.C., the Netherlands) to enhance visualization and ensure complete removal by the vitreous cutter. Conclusion MembraneBlue-Dual® can be used to facilitate complete removal of a clear and otherwise difficult to see corneal contact lens from the vitreous cavity. This case also demonstrates the importance of exploratory vitrectomy in all trauma cases with posterior segment involvement, even when imaging modalities show no signs of intraocular foreign bodies.

Aniridia is a panocular inherited rare eye disease linked to heterozygous mutations on the PAX6 gene, which fail to properly produce sufficient protein essential for normal eye development and function. Most of the patients suffer from aniridia-related keratopathy, a progressive opacification of the cornea. There is no effective treatment for this blinding disease. Here we screen for small compounds and identified Ritanserin, a serotonin 2A receptor antagonist, that can rescue PAX6 haploinsufficiency of mutant limbal cells, defective cell migration and PAX6-target gene expression. We further demonstrated that Ritanserin activates PAX6 production through the selective inactivation of the MEK/ERK signaling pathway. Our data strongly suggest that repurposing this therapeutic molecule could be effective in preventing or treating existing blindness by restoring corneal transparency.

Objective The literature regarding gonadoblastoma risk in exonic Wilms’ tumor suppressor gene (WT1) pathogenic variants is sparse. The aim of this study is to describe the phenotypic and genotypic characteristics of Asian–Indian patients with WT1 pathogenic variants and systematically review the literature on association of exonic WT1 pathogenic variants and gonadoblastoma. Design Combined retrospective–prospective analysis. Methods In this study, 46,XY DSD patients with WT1 pathogenic variants detected by clinical exome sequencing from a cohort of 150 index patients and their affected relatives were included. The PubMed database was searched for the literature on gonadoblastoma with exonic WT1 pathogenic variants. Results The prevalence of WT1 pathogenic variants among 46,XY DSD index patients was 2.7% (4/150). All the four patients had atypical genitalia and cryptorchidism. None of them had Wilms’ tumor till the last follow-up, whereas one patient had late-onset nephropathy. 11p13 deletion was present in one patient with aniridia. The family with p.Arg458Gln pathogenic variant had varied phenotypic spectrum of Frasier syndrome; two siblings had gonadoblastoma, one of them had growing teratoma syndrome (first to report with WT1). On literature review, of >100 exonic point pathogenic variants, only eight variants (p.Arg462Trp, p.Tyr177*, p.Arg434His, p.Met410Arg, p.Gln142*, p.Glu437Lys, p.Arg458*, and p.Arg458Gln) in WT1 were associated with gonadoblastoma in a total of 15 cases (including our two cases). Conclusions WT1 alterations account for 3% of 46,XY DSD patients in our cohort. 46,XY DSD patients harboring exonic WT1 pathogenic variants carry a small but definitive risk of gonadoblastoma; hence, these patients require a gonadoblastoma surveillance with a more stringent surveillance in those harboring a gonadoblastoma-associated variant.

Aniridia is usually an autosomal dominant, rare disorder characterized by a variable degree of hypoplasia or the absence of iris tissue, with additional ocular abnormalities. Pathogenic variants in the PAX6 gene are associated with aniridia in most patients. However, in up to 30% of individuals, disease results from 11p13 chromosomal rearrangements. Here we present a patient with a clinical diagnosis of partial aniridia born to consanguineous Polish parents. The parents were asymptomatic and ophthalmologically normal. We performed PAX6 sequencing, array comparative genomic hybridization, quantitative real-time PCR, and whole genome sequencing. aCGH revealed a homozygous deletion of the DCDC1 gene fragment in the patient. The same, but heterozygous deletion, was detected in each of the patient's asymptomatic parents and brother. In the presented family, the signs and symptoms of aniridia are observed only in the homozygous proband. Whole genome sequencing analysis was performed to determine other possible causes of the disease and did not detect any additional or alternative potentially pathogenic variant. We report a novel homozygous deletion located in the 11p13 region, which does not include the PAX6 gene or any known PAX6 enhancers. To our best knowledge, this is the first reported case of a patient presented with isolated aniridia carrying a homozygous microdeletion downstream of the PAX6 gene.

This review updates the knowledge about the morphological assessment of the foveal hypoplasia in congenital aniridia and resumes the reported genotype-phenotype correlations known to date. Congenital aniridia is a pan ocular disease. Although iris absence is considered the hallmark of this entity, foveal hypoplasia is present in 94.7%-84% of patients. A foveal morphology assessed by optical coherence tomography in which external retina structures can be identified, with presence of the lengthening of photoreceptors outer segment and a greater external retinal thickness, is associated with a better visual outcome, regardless a foveal pit is identified or not. This analysis can be performed once the external retina has completed its differentiation, by 6 years old. PAX6 mutations that introduce premature termination codon, C terminal extension or PAX6 involving deletions have been related to lesser foveal differentiation. Better foveal differentiation has been associated to non-coding PAX6 mutations.

Aniridia is a congenital bilateral ocular disorder with dominant autosomal inheritance. More than 50% of patients will develop aniridic glaucoma (AG) during their lives. Open angle glaucoma is more common in aniridia, but a closed angle mechanism has been described in relation with anterior rotation of the rudimentary iris, occluding trabecular meshwork. Diagnosis and follow-up of AG is difficult in relation with the presence of keratopathy, nystagmus and foveal hypoplasia. Central corneal thickness usually measures more than 600 microns, which prevents achieving a reliable value of intraocular pressure. Medical treatment of AG is not different from the rest of glaucoma. It is recommended to use preservative free formulations, and combined therapy is often required. Surgical treatment is needed in many cases. There is no consensus on the first line surgery for AG, but in open angle AG, angle surgery is usually first choice, and glaucoma drainage devices are the next preferred surgical technique. In closed angle AG glaucoma drainage devices are usually the first choice, with trabeculectomy as the second preferred surgical technique.

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, lead-ing to involvement of most eye structures. Hypoplasia of the fovea is usually present and is associated with reduced visual acuity and nystagmus. Aniridia-associated keratopathy, glaucoma, and cataract are serious and progressive complications that can further reduce visual function. Treatment of the ocular complications of aniridia is challenging and has a high risk of side effects. New approaches such as stem cell therapy may, however, offer better prognoses. We describe the various ocular manifestations of aniridia, with a special focus on conditions that commonly require treatment. We also review the growing literature reporting systemic manifestations of the disease. (c) 2021 The Author(s). Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license ( http://creativecommons.org/licenses/by-nc-nd/4.0/ ). Funding Agencies|European Union COST Action [CA-18116 ANIRIDIA-NET]

Purpose Prosthetic iris devices have recently been used to improve cosmesis and reduce glare in aniridia. There is currently no consensus on which prosthetic iris device or which surgical approach is preferred for managing large iris defects. Methods A novel surgical approach with Gore-Tex polytetrafluoroethylene sutures was used to achieve scleral fixation of an intraocular lens and artificial iris complex in a 19-year-old Caucasian female patient with aniridia, nystagmus, cataracts, and ectopia lentis. Results Six weeks postoperatively, the intraocular lens-artificial iris complex remained well centered, and the vision in the left eye improved from 20/400 to 20/70. Two years after prosthetic iris device implantation, there have been no complications. Conclusion This case demonstrates a promising proof-of-concept for long-term management of complicated aniridia cases using an intraocular lens and artificial iris complex prosthetic iris devices. Gore-Tex sutures may be preferable to conventional polypropylene sutures because of their improved durability.

To study the long-term intraocular pressure (IOP) and visual outcomes in treated aniridic glaucoma.A retrospective chart review of patients with aniridia and glaucoma, with ≥ 2-year follow-up, was performed. Eyes in early glaucomatous stages were medically managed, while moderate-severe stage eyes underwent a trabeculectomy with mitomycin-c (MMC). Success was termed 'complete' when average final IOP was ≤ 18 mmHg without usage of glaucoma medications, and 'qualified' when with/without topical glaucoma therapy. A significant change in vision was defined as 2-line change on Snellen vision chart or 0.2 change in logMAR units in in either direction (better or worse).Thirty-five eyes of 20 patients were included. The mean duration of follow-up was 7.29 ± 5.75 years. Associated ocular anomalies were present in 19 eyes (54.29%). Twelve eyes (34.28%) were maintained on medical management, while 23 eyes (65.71%) had undergone a trabeculectomy with MMC. The mean baseline IOP was 31.46 ± 6.34 mmHg, and mean IOP on last follow-up was 13.25 ± 5.82 mmHg, p 0.001. Seventy-five percent of the medically managed eyes achieved an IOP ≤ 18 mmHg. 52.17% and 95.65% of the surgically treated eyes achieved 'complete' and 'qualified' success respectively. The median best corrected visual acuity (BCVA) at baseline was 1.48(0.6-2) logMAR units and on final follow-up was 1.3 (0.48-5) logMAR units, p = 0.21. Fifty percent of the eyes remained stable, 35.71% showed an improvement and 14.29% a deterioration of 0.2 logMAR units. Patients with a longer follow-up ( 10 years) and those who had undergone a trabeculectomy with MMC were more likely to show good IOP control (p = 0.003; p = 0.004 respectively).Aniridic glaucoma can be managed efficiently by medications in early glaucomatous neuropathy, and with trabeculectomy augmented with mitomycin-C and releasable sutures for more advanced glaucomas, offering favourable long-term IOP control, visual stability and safety.

In the present cases, the use of the Ophtec Arificial Iris model C1 is described in patients with traumatic or postoperative aniridia/aphakia. In one of the patients, it was combined with perforating keratoplasty because of corneal scarring. In both of the presented cases, improvement in visual acuity and a satisfactory aesthetic result without any serious complications can be shown. However, the short follow-up time must be emphasised.In den hier vorgestellten Kasuistiken wird die Versorgung mittels Ophtec Artificial Iris Modell C1 bei traumatischer bzw. postoperativer Aniride/Aphakie beschrieben. In einem Fall wird bei visuslimitierender Hornhautvernarbung zusätzlich die Kombination mit einer perforierenden Keratoplastik angewendet. Im Ergebnis zeigt sich in beiden Fällen ein Zugewinn von Visus und kosmetischer Zufriedenheit ohne schwerwiegende Komplikationen. Einschränkend muss aber auf den aktuell noch kurzen Nachbeobachtungszeitraum hingewiesen werden.

Genetic testing plays an increasingly important role in the diagnosis and potential treatment of inherited and rare conditions, such as aniridia—a disease that leads to abnormal eye development, as well as in health research on these conditions. As genetic testing is increasingly sought for accurate and early diagnosis of rare genetic disorders and in the context of direct‐to‐consumer genomics, it is critical to examine the public‐facing information about access to these services and reimbursement policies. We conducted a targeted policy and public‐facing resource search. Our analysis of resources available for the patient community revealed that there is very little practical guidance available about access and reimbursement for genetic testing for rare diseases. Greater clarity in public‐facing resources about genetic testing would be beneficial to the patient community as it would promote informed choices about the procedure, mitigate potential harms associated with lack of information and enable patient engagement in their own health care., Key points Genetic testing is crucial for diagnosis and treatment of inherited and rare conditions.Information about access to genetic testing and reimbursement for it is not easily available in public‐facing resources.The patient community would benefit from greater clarity in available information about genetic testing, because it would facilitate informed decision‐making and promote patient engagement in their care.

To compare the outcomes of Aurolab aqueous drainage implant (AADI; Aurolab) placement and trabeculectomy with mitomycin C (MMC) in patients with glaucoma secondary to aniridia.Retrospective comparative interventional case series.This study included patients with congenital aniridia who underwent AADI implantation or trabeculectomy with MMC. Surgical failure was defined as IOP21 mm Hg or reduced20% from baseline, IOP ≤ 5 mm Hg, reoperation for glaucoma or a complication, or loss of light perception vision.A total of 30 eyes of 30 patients underwent surgical treatment, including 18 eyes that received an AADI and 12 eyes that had a trabeculectomy with MMC. The cumulative probability of failure at 2 years was 11.1% (95% CI = 2.9%-37.6%) in the AADI group and 58.3% (95% CI = 33.5%-84.8%) in the trabeculectomy group (P = .05, log-rank). At 2 years, IOP (mean ± SD) was 14.1 ± 2.8 mm Hg in the AADI group and 19.6 ± 6.6 mm Hg in the trabeculectomy group (P = .02), and the number of glaucoma medications was 1.7 ± 0.9 in the AADI group and 2.2 ± 0.8 in the trabeculectomy group (P = .25). Surgical complications developed in 1 patient in each treatment group (P = .65). Cataract surgery was performed in 5 (42%) patients in the trabeculectomy group and no patients in the AADI group (P = .01).Placement of an AADI resulted in lower IOP and a higher rate of surgical success compared to trabeculectomy with MMC in eyes with glaucoma associated with aniridia. Cataract extraction was more frequently required after trabeculectomy with MMC than AADI implantation.

Aniridia patients have poor visual acuity and iris malformation. The fovea in these patients is underdeveloped, but the relationship between structure and electrophysiologic function remains incompletely understood. This study correlates electrophysiology, visual acuity and optical coherence tomography (OCT) in patients with aniridia secondary to mutations in the PAX6 gene and compares with age-similar controls. Patients were recruited from clinical practice. The mfERG protocol was a 4-min 103-hexagon protocol covering approximately 40° in diameter of central retina. Diagnosys full-field ERG (ffERG) and VERIS multifocal ERG (mfERG) were obtained using standard International Society for Clinical Electrophysiology of Vision protocols. OCT central thickness was recorded, and an OCT foveal score was calculated. Nonparametric permutation testing was utilized to determine the statistical significance. A total of 6 aniridia patients and 25 control patients were recruited. On mfERG, aniridia patients had significantly lower amplitudes in rings 1–3 (p = 0.0006, 0.0013, 0.0132), shorter latencies in ring 1 (p = 0.0312) and longer latencies in rings 5 and 6 (p = 0.0026, p = 0.0042) than controls. There was a significantly positive relationship in aniridia patients between logMAR visual acuity and mfERG amplitude in ring 4 (p = 0.0392) and ring 5 (p = 0.0489). On ffERG, there was no difference in amplitudes, though photopic 3.0 a- and b-wave latency, 30 Hz flicker latency and scotopic 0.01 b-wave latency were significantly longer in aniridia patients versus control (p = 0.0018, 0.0.0005, 1.00 x $$10^{{ - 4}}$$ , 0.0198). Thicker central macula on OCT correlated with lower mfERG amplitudes in rings 4–6 (p = 0.0369, 0.0292, 0.0255). There was no correlation between visual acuity and central macular thickness or foveal hypoplasia score as determined by OCT. Higher amplitude on mfERG correlated with poorer visual acuity in rings 4 and 5 in patients with PAX6 mutations. The slope of the change in amplitude from central to peripheral rings on the mfERG is significantly different in aniridia patients compared to controls, with a slower drop-off of amplitude from center to periphery. Additionally, mfERG in aniridia showed lower amplitudes than controls in rings 1–3. These changes along with the lack of correlation between visual acuity and central macular thickness/OCT score suggest that changes in electrical topography may be important to visual deficits in patients with PAX6 gene mutations.

Purpose To evaluate repeat Descemet membrane endothelial keratoplasty (re-DMEK) success rates and to identify risk factors for re-DMEK failure. Design Retrospective case series. Methods Settings: Institutional. Patients and interventions: A chart review was performed, including all eyes with primary DMEK failure that underwent re-DMEK between 2013 and 2019 at the Toronto Western Hospital and the Kensington Eye Institute (Toronto, Ontario, Canada) and had at least 6 months of follow-up. Main outcome measure: Predicting factors for re-DMEK outcome. Results Of 590 consecutive DMEK surgeries, 40 eyes (6.7%) were identified for having a secondary DMEK surgery after primary DMEK failure. Etiologies for primary DMEK were Fuchs endothelial corneal dystrophy (32.5%), pseudophakic bullous keratopathy (35%), previous failed graft (27.5%), and other indications (5%). Fifty-five percent of the cohort were categorized as having a complicated anterior segment including 11 eyes with previous glaucoma surgery, 7 eyes post–penetrating keratoplasty, 4 eyes post–Descemet stripping automated endothelial keratoplasty, 3 eyes peripheral anterior synechia, 3 eyes previous pars plana vitrectomy, 2 eyes aphakia, and 1 eye each with aniridia, anterior chamber intraocular lens, and iris-fixated intraocular lens. Re-DMEK failure was documented in 12 eyes (30%) of the entire cohort. The risk factor for re-DMEK failure was the presence of a complicated anterior segment (P = .01, odds ratio = 17.0 [95% confidence interval: 1.92-150.85]), with 50% re-DMEK failure rate in this subgroup. Conclusion Re-DMEK is a viable option for cases of primary DMEK failure, especially for eyes with Fuchs endothelial corneal dystrophy as the indication for primary DMEK without other ocular morbidities; however, eyes categorized with a complicated anterior segment had high re-DMEK failure rates.

Sundas Maqsood,1,2 Kareem Elsawah,3 Navpreet Dhillon,1 Shady Soliman,3 Masara Laginaf,2 Vaishali Lodhia,2 Damian Lake,1 Samer Hamada,1 Mohamed Elalfy1– 3 1Corneo-Plastic Unit, Queen Victoria Hospital NHS, East Grinstead, UK; 2Eye Department, Maidstone and Turnbridge Wells Hospitals, Maidstone, UK; 3Cornea Department, Research Institute of Ophthalmology, Giza, EgyptCorrespondence: Mohamed Elalfy Tel +44 1342 414560Email m.elalfy@nhs.netObjective: To report the outcomes of using human amniotic membrane-derived dry matrix (AMDDM) in the management of persistent corneal epithelial defects (PEDs) of various etiologies.Methods: A cohort study of 84 patients age range 7 to 92 years with 93 PEDs were treated with AMDDM (Omnigen® using OmniLenz® at two centers (Queen Victoria Hospital and Maidstone Hospital) in the UK. The main outcome measures were healing response of PED and time to heal after application of AMDDM.Results: A total of 106 applications of AMDDM were recorded for 81 patients (52 males, 29 females) with a spectrum of different etiologies. Fifty-eight percent of the eyes showed complete healing, and 28% showed partial decrease of the size of PEDs with average treatment length recorded as 22.4± 12.3 days. In patients with limbal stem cell deficiency (n=44; aniridia=12, chemical injury=9, Stevens–Johnson syndrome=10), 50% of PEDs showed complete healing and 27% showed partial healing. In patients with microbial keratitis (n=21) (bacterial: 13, fungal: 4, herpetic: 3, acanthamoeba: 1) 57% of PEDs showed complete healing and 33% were partially healed. In patients with keratoplasty (n=16), 56% of PEDs showed complete healing and 31% were partially healed. Vision remained stable in 59% and improved in 27% of the study the population.Conclusion: AMDDM can be easily applied in the clinical setting and has demonstrated its efficiency as a new tool to treat persistent epithelial defects.Keywords: persistent epithelial defects, amniotic membrane derived dry matrix, suture less amniotic membrane

Purpose: To assess the efficacy and safety of human leukocyte antigen-matched allogeneic cultivated limbal epithelial stem cell grafts in the treatment of aniridia-associated keratopathy (AAK). Methods: Six eyes of 6 patients with severe AAK received an allogeneic stem cell graft between January 2010 and March 2017. Anatomical and functional results were assessed at 6 months, 1 year, 2 years, and the final follow-up visit available. Safety analysis was performed by considering all perioperative and postoperative adverse events and additional surgeries required during the follow-up period. Results: The mean follow-up was 53.6 months (range 24-104 months). In most patients (80%), there was an early improvement of the keratopathy postoperatively, which slowly regressed during longer follow-up. At the final follow-up, 4 of the eyes were graded as failure and 1 eye was graded as partial success. Grading the sixth eye was not possible because of an adverse event. None of the patients maintained a total anatomical success in the long-term. Only 1 patient maintained a modest improvement in best-corrected visual acuity from hand motion to counting fingers. Four serious adverse events were recorded in 2 patients. Conclusions: Severe AAK remains a challenging condition to manage. Transplantation of allogenic ex vivo cultivated limbal stem cells may provide a temporary improvement in ocular surface stability, but anatomical and functional results are poor in the long-term. The eyes are prone to adverse events, and any surgical treatment should take this into consideration.

According to the World Health Organization, corneal blindness is the fourth most common cause of blindness and visual impairment worldwide. In Russia, up to 18% of blindness is caused by corneal damage. Limbal stem cell deficiency (LSCD) is one of the causes of corneal blindness and visual impairment due to anterior epithelial replacement with fibrovascular pannus. Bilateral LSCD may develop in patients with aniridia, Steven-Jones syndrome, and severe corneal burns of both eyes, leading to severe decrease in visual acuity in both eyes and, as a consequence, physical disability associated with blindness. In such cases, cell therapy, based on autologous oral epithelial culture as an alternative to allogeneic limbus transplants, is proposed for reconstruction of the anterior corneal epithelium. This new treatment method promotes corneal reepithelization, better visual acuity, reduced nonspecific ocular complaints and improved quality of life of patients. The effectiveness and significant increase in the frequency of transparent engraftment of donor corneas after cell therapy drives huge interest in this topic all over the world. This review presents literature data on the features of histotopography and methods for obtaining a cultured autologous oral mucosal epithelium, on cell markers that are used to identify epithelial cells, and on methods for creating cell grafts for subsequent transplantation to the corneal surface in LSCD patients.

Purpose We evaluate the role of microscope-integrated intraoperative optical coherence tomography (i-OCT) in pediatric keratoplasty. Design: Combined prospective and retrospective, comparative, interventional study conducted at the Dr Rajendra Prasad Center for Ophthalmic Sciences in New Dehli, India. Methods: Seventy-five children ≤16 years of age undergoing planned keratoplasty were divided into 2 groups and compared regarding intraoperative course and postoperative outcome. In group 1 (prospective group, n = 56), preoperative anterior segment visualization was performed clinically, with ultrasound biomicroscopy (UBM) and i-OCT and keratoplasty was commenced under i-OCT microscope. In group 2 (retrospective group, n = 19), a conventional microscope was used during keratoplasty. Results: In group 1, i-OCT, UBM, and clinical examination detected retrocorneal membrane in 10%, 7.5%, and 5% (P = .005), iris adhesions in 62.5%, 57.5%, and 20% (P = .02), iris stump in aniridia 15%, 10%, and 0% (P = .001), shallow central anterior chamber in 22.5%, 22.5%, and 7.5% (P = .003), and shallow peripheral anterior chamber in 65%, 60%, and 17.5% (P = .004) of children, respectively. The use of i-OCT affected intraoperative surgeon decision making in 45% and 33% of cases of anterior and posterior lamellar keratoplasty, respectively. During penetrating keratoplasty, concomitant intraoperative procedures were higher in group 1 than in group 2, namely synechiolysis (19/40 vs 2/15; P = .1), pupilloplasty (4/40 vs 0/15; P = .02), lens extraction (4/40 vs 1/15; P = .5), and anterior vitrectomy (2/40 vs 1/15; P = .4). Postoperative secondary interventions were lower (P = .04) in group 1 (48.21% vs 94.74%). Conclusions: Anterior segment imaging with i-OCT and UBM immediately before surgery improves the surgical planning of children with corneal opacities. In addition, the use of i-OCT refines intraoperative steps, thereby optimizing the postoperative outcome of pediatric keratoplasty.

The abnormal neuroectodermal development due to the PAX 6 gene mutation results in aniridia, a rare disorder. We report herein a family that presented with aniridia, myopia, ptosis, glaucoma, cataract, and sensory nystagmus. This family provides a unique resource for the mutational analysis of the CRYBB1, CRYBA4, and PAX-6 gene. In addition, it is important to remember that mutations are often a part of these ocular abnormalities. Patient awareness, education, and involvement in treatment are essential to prevent amblyopia associated with the cataract and nystagmus related to aniridia.

A diminuição da visão devido à importante opacidade de meios é comum em aniridia, porém existem poucos relatos de cirurgia combinada nesta condição. A cirurgia de catarata com implante de lente intra-ocular de polimetilmetacrilato continua sendo um desafio para os cirurgiões, devido ao maior peso desse material e à diálise zonular apresentada por esses pacientes. O presente estudo, tem como objetivo relatar um caso de aniridia em uma paciente jovem, apresentando catarata hipermadura.

Purpose To describe the indications, motivations, and outcomes of artificial iris exchange. Setting Stein Eye Institute. Design Consecutive case series. Methods Review of medical records of patients implanted with an artificial iris device who underwent a subsequent artificial iris exchange. Results Five patients were identified: 4 women and 1 man. Their ages ranged from 19 to 58 years at the time of the exchange. One patient had congenital aniridia; the other 4 had acquired iris defects. Three exchanges were simultaneous; 2 were consecutive. Corneal decompensation was the most common indication for the surgery precipitating the exchange. Explanted iris devices included models from Ophtec, Morcher, BrightOcular, and HumanOptics. Replacement models were from Morcher and HumanOptics. Three of the original irides were passively fixated in the capsular bag or ciliary sulcus. All of the replacement irides were suture-fixated to the sclera, either directly or secondarily by way of an intraocular lens. The motivation for the exchange was improved cosmesis in 4 patients and sustained cosmesis in 1 patient. Final visual acuities were 20/25 for 2 patients, 20/100 for 1 patient, and hand motion for 2 patients. Conclusions No 2 iris exchanges were similar. Clinical indications and outcomes varied considerably from patient to patient. A common thread was each patient's motivation to maintain or improve on the functional and cosmetic benefits of having been previously implanted with an artificial iris device. Final visual acuity results were often poor because of the effects of comorbidities, especially glaucoma and corneal decompensation.

Purpose. To evaluate the clinical and functional results of the technique of transcleral fixation of the artificial iridochrustalic diaphragm during its decentration in a patient with aniridia and aphakia. Material and methods. Under observation was a 32-year-old patient K. with a diagnosis on the right eye: iridochrustalic diaphragm decentralization, posttraumatic aniridia, posttraumatic aphakia, who underwent a method of transcleral fixation of a displaced artificial iridochrustalic diaphragm developed at the Academician S. N. Fedorov Eye Microsurgery of the Moscow Ministry of Health of the Russian Federation. Results. Patient K. is subjectively satisfied with the visual functions obtained in the right eye. Conclusion. Thus, this clinical case demonstrates a very successful implementation of the fixation of the iridochrustalic diaphragm with its displacement to obtain satisfactory visual functions in the patient. Key words: aniridia, iridochrustalic diaphragm, transcleral fixation.

Background WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and range of developmental delays) is a rare contiguous gene deletion syndrome with a 45% to 60% risk of developing Wilms tumor (WT). Currently, surveillance and treatment recommendations are based on limited evidence. Methods Clinical characteristics, treatments, and outcomes were analyzed for patients with WAGR and WT/nephroblastomatosis who were identified through International Society of Pediatric Oncology Renal Tumor Study Group (SIOP‐RTSG) registries and the SIOP‐RTSG network (1989‐2019). Events were defined as relapse, metachronous tumors, or death. Results Forty‐three patients were identified. The median age at WT/nephroblastomatosis diagnosis was 22 months (range, 6‐44 months). The overall stage was available for 40 patients, including 15 (37.5%) with bilateral disease and none with metastatic disease. Histology was available for 42 patients; 6 nephroblastomatosis without further WT and 36 WT, including 19 stromal WT (52.8%), 12 mixed WT (33.3%), 1 regressive WT (2.8%) and 2 other/indeterminable WT (5.6%). Blastemal type WT occurred in 2 patients (5.6%) after prolonged treatment for nephroblastomatosis; anaplasia was not reported. Nephrogenic rests were present in 78.9%. Among patients with WT, the 5‐year event‐free survival rate was 84.3% (95% confidence interval, 72.4%‐98.1%), and the overall survival rate was 91.2% (95% confidence interval, 82.1%‐100%). Events (n = 6) did not include relapse, but contralateral tumor development (n = 3) occurred up to 7 years after the initial diagnosis, and 3 deaths were related to hepatotoxicity (n = 2) and obstructive ileus (n = 1). Conclusions Patients with WAGR have a high rate of bilateral disease and no metastatic or anaplastic tumors. Although they can be treated according to existing WT protocols, intensive monitoring of toxicity and surveillance of the remaining kidney(s) are advised. Lay Summary WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and range of developmental delays) is a rare genetic condition with an increased risk of developing Wilms tumor.In this study, 43 patients with WAGR and Wilms tumor (or Wilms tumor precursor lesions/nephroblastomatosis) were identified through the international registry of the International Society of Pediatric Oncology Renal Tumor Study Group (SIOP‐RTSG) and the SIOP‐RTSG network. In many patients (37.5%), both kidneys were affected. Disease spread to other organs (metastases) did not occur.Overall, this study demonstrates that patients with WAGR syndrome and Wilms tumor can be treated according to existing protocols. However, intensive monitoring of treatment complications and surveillance of the remaining kidney(s) are advised., Patients with WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and range of developmental delays) and Wilms tumor/nephroblastomatosis, identified through the International Society of Pediatric Oncology Renal Tumor Study Group registries and network, have a high rate of bilateral disease and no metastatic or anaplastic tumors. Although they can be treated according to existing Wilms tumor protocols, intensive monitoring of toxicity and surveillance of the remaining kidney(s) are advised.

PURPOSE Panel-reactive antibody (PRA) testing has been widely adopted in solid organ transplantation for risk assessment in potential allograft recipients but has not been studied in the context of ophthalmic transplantation. The purpose of this study is to evaluate outcomes in patients undergoing ocular surface stem cell transplantation (OSST) for limbal stem cell deficiency (LSCD) relative to preoperative PRA level. METHODS This is retrospective chart review of all eyes with documented PRA level that underwent OSST for LSCD between May 2000 and March 2019 at a single institution. Eyes with stable ocular surface but

We sought to evaluate the 1- to 9-year safety and efficacy of colored iris reconstruction lens implantation in eyes with visual disturbances caused by partial or complete aniridia.Prospective, interventional case series.Thirty-eight patients were implanted with Ophtec 311 colored iris reconstruction lenses at the University of California, Los Angeles as part of a larger U.S. Food and Drug Administration clinical trial. Patients in group 1 lacked corneal pathology. Patients in group 2 patients had corneal pathology, such as endothelial failure, previous transplants, or scarring. Safety measures included loss of corrected distance visual acuity (CDVA), surgical complications, adverse events, secondary interventions, and corneal endothelial cell loss. Efficacy measures included improvement in uncorrected distance visual acuity (UDVA) and subjective visual disturbances.Groups 1 (n = 8) and 2 (n = 30) showed improvements in CDVA (P = .155 and .038), UDVA (P = .002 and P.001), and subjective visual disturbance scores at year 3. Median CDVA and UDVA declined slightly for both groups after 1-2 years. Group 2 experienced more adverse events, surgical complications, and secondary interventions. Endothelial cell loss was greater for group 2 (19.7%) than group 1 (8.05%), although this difference was not statistically significant (P = .067).Colored iris reconstruction lens implantation improved CDVA, UDVA, and subjective visual disturbances 3 years postoperatively and beyond. Adverse events, complications, and subsequent declines in visual acuity were common, however, in these eyes with complex medical and surgical histories.

WAGRO syndrome is a rare genetic syndrome that includes Wilms tumor, aniridia, genitourinary system abnormalities, mental retardation, and obesity. The syndrome is associated with deletions of the short arm of chromosome 11 (11p), where the PAX6 and WT1 genes are located. We present the clinical case of a 7-year-old boy with aniridia, polar cataract, and concomitant neuromotor, psychomotor, and speech delays. Evaluation of the childs karyotype followed by confirmation using multiplex ligation-dependent probe amplification showed the presence of a deletion including in the 11p13-p14 region.

PURPOSE To evaluate the outcomes of Descemet membrane endothelial keratoplasty (DMEK) in aphakic and aniridic eyes. METHODS A retrospective chart review of either aphakic or aniridic patients who underwent DMEK at Toronto Western Hospital, Canada, between 2015 and 2019 was performed. Demographic characteristics, intraoperative and postoperative complications, and best corrected visual acuity (BCVA) were analyzed. RESULTS Nine eyes of 9 patients, aged 51.0 ± 8.6 years, were included (3 aniridic, 5 aphakic, and 1 combined). The average follow-up was 15.7 ± 12.7 months. The best corrected visual acuities before surgery and 3 and 6 months after surgery were 1.28 ± 0.47, 1.33 ± 0.98, and 1.03 ± 0.56 LogMAR, respectively. Six eyes (67%) had graft detachment, with 3 of them larger than 30% of the graft area. One eye (11%) developed hyphema. The overall failure rate was 88% (8 of 9 eyes), meaning only one was viable at the last follow-up. Primary graft failure was seen in 4 eyes (44%) after detachment (n = 3) and intraoperative hyphema (n = 1). Secondary failure occurred in 4 eyes (44%) at 7, 12, 15, and 36 months. The secondary failure at 36 months was after rejection. Failures were managed with penetrating keratoplasty (n = 2), repeat DMEK (n = 3), Descemet stripping automated endothelial keratoplasty (n = 1), and observation because of poor vision potential (n = 2). Cumulative graft survival probabilities at 12 and 24 months were 44% and 17%, respectively. CONCLUSIONS Aniridic and aphakic patients experienced unacceptably high detachment and failure rates after DMEK. Before performing DMEK, the risks and benefits should be carefully weighed and perhaps other keratoplasty techniques should be used.

Purpose To investigate the effectiveness and safety of a custom-made iris prosthetic device used to reduce photic symptoms in patients with congenital aniridia. Setting Cincinnati Eye Institute, Cincinnati, Ohio, USA. Design Retrospective single-surgeon case series. Methods The charts of all eyes of patients diagnosed with congenital aniridia syndrome who underwent implantation of the custom-made iris prosthesis at the setting institution between 2008 and 2018 were reviewed. Eyes with more than 6 months of follow-up were included in evaluation. Charts were carefully reviewed for comorbid conditions, interventions, and outcomes. Results Ninety-six eyes of 50 patients were included in the study. Subjective reduction in photophobia and glare was reported in 95.7% and 95.2% of cases, respectively. The incidence of aniridia fibrosis syndrome (AFS) in this study (3.1%; 95% confidence interval, 0.6%-8.9%) was similar to previous studies in the literature. Conclusions The custom-made iris prosthesis was an effective and safe option to reduce photic symptoms in patients with congenital aniridia. The custom, flexible iris implant does not appear to alter the risk for AFS. These highly complex eyes with significant comorbid pathologies demand an individualized approach and careful long-term follow-up.

BackgroundAniridia is a severe autosomal dominant panocular disorder associated with pathogenic sequence variants of the PAX6 gene or 11p13 chromosomal aberrations encompassing the coding and/or regulatory regions of the PAX6 gene in a heterozygous state. Patients with aniridia display several ocular anomalies including foveal hypoplasia, cataract, keratopathy, and glaucoma, which can vary in severity and combination.MethodsA cohort of 155 patients from 125 unrelated families with identified point PAX6 pathogenic variants (118 patients) or large chromosomal 11p13 deletions (37 patients) was analyzed. Genetic causes were divided into 6 types. The occurrence of 6 aniridic eye anomalies was analyzed. Fisher’s exact test was applied for 2×2 contingency tables assigning numbers of patients with/without each sign and each type of the PAX6 variants or 11p13 deletions with Benjamini–Hochberg correction. The age of patients with different types of mutation did not differ.ResultsPatients with 3′-cis-regulatory region deletions had a milder aniridia phenotype without keratopathy, nystagmus, or foveal hypoplasia. The phenotypes of the patients with other rearrangements involving 11p13 do not significantly differ from those associated with point pathogenic variants in the PAX6 gene. Missense mutations and genetic variants disrupting splicing are associated with a severe aniridia phenotype and resemble loss-of-function mutations. It is particularly important that in all examined patients, PAX6 mutations were found to be associated with multiple eye malformations. The age of patients with keratopathy, cataract, and glaucoma was significantly higher than the age of patients without these signs.ConclusionWe got clear statistically significant genotype-phenotype correlations in congenital aniridia and evident that aniridia severity indeed had worsened with age.

Purpose: The objective of this study was to describe the short-term results of allogenic transplantation of limbal stem cells expanded on amniotic membrane for the ocular surface reconstruction. Methods: Prospective nonrandomized, nonmasked study in a single ophthalmological center. Ten patients with bilateral total limbal stem cell deficiency (LSCD) were included. Expression and presence of ABCB5 and Δp63α in amniotic membrane-cultured limbal epithelial stem cells were analyzed, in relationship with clinical changes after allogenic transplantation. An objective evaluation was performed to determine corneal transparency and superficial vascularization. Results: In a median follow-up time of 11.6 months, 7 patients (70%) were considered as failure compared with the preoperative status. ABCB5 and Δp63α are expressed in similar amount in the limbal epithelial cells expanded in vitro and transplanted in patients with bilateral LSCD. Conclusions: Transplantation of allogenic epithelial limbal cells expanded in amniotic membrane could be considered in patients with LSCD due to burns or congenital etiologies such as aniridia, but its benefit is limited for patients with immunologic diseases.

Purpose: To evaluate the choroidal thickness (CT) in children with congenital aniridia in comparison with age-matched controls. Methods: This was a cross-sectional, observational study that included 64 eyes of 32 children with congenital aniridia (aged 5-12 years) and 80 eyes of 40 healthy subjects who were age-matched. In all subjects, subfoveal choroidal thickness (SFCT) was assessed at 750-μm intervals from the fovea to 1.5 mm in the temporal and nasal directions with spectral-domain optical coherence tomography (SD-OCT). Results: The mean SFCT was 207.67 ± 30.99 µm in the aniridic eyes. This SFCT was significantly thinner than that in control eyes (288.55 ± 30.06 µm) (P < .001). The SFCTs at 1.5 mm and 0.75 mm intervals in the temporal and nasal directions from the fovea were also significantly thinner in eyes with aniridia than control eyes (P < .001).There was a significant negative correlation between the SFCT and axial length in eyes with aniridia (B = -10.60, 95%CI = -19.31~-1.89, P = .017). Conclusions: The subfoveal and parafoveal CTs were significantly thinner in eyes with congenital aniridia than in control eyes. These choroidal changes could open up a new way for the research related to the pathophysiology of congenital aniridia.

Genetic analysis of two siblings with complex microphthalmia, with clinically healthy parents. Clinical and experimental. The patients underwent a detailed ophthalmic evaluation, including visual acuity, fundus examination, gonioscopy, ultrasound examination, and optical coherence tomography. Lensectomy with anterior vitrectomy was conducted in both patients. Additionally, in patient p1, electroencephalography analysis was performed. Genetic analysis was carried out using array comparative genomic hybridization (aCGH) and whole exome sequencing (WES). Bidirectional Sanger sequencing was conducted for validation and segregation analysis of the identified variant in the family. The aCGH results were normal. The heterozygous PAX6 variant c.52G>C (p.Gly18Arg) was identified in the proband (p1) through WES analysis. Sanger sequencing of exon 5 of PAX6 confirmed the presence of the variant in the other affected sibling (patient p2) but did not allow for identification of the variant in the parents’ DNA isolated from leukocytes and buccal cells. The description of the variant in PAX6 in two siblings with clinically healthy parents who are negative for the mutation in DNA from leukocytes and buccal cells represents the possibility of parental gonadal mosaicism. Detection of germ cell mosaicism in the parents is essential to provide genetic counseling to the family regarding the risk of reoccurrence. Furthermore, we also report a pathogenic variant in PAX6 that to our knowledge has not so far been reported in patients with partial aniridia and therefore broadens the spectrum of the variants associated with aniridia.

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. Age, sex, ethnicity, follow-up time, AAK stage, noncorneal abnormalities, ocular surgeries, and complications were recorded. The visual acuity equivalent (VAE), approximate Early Treatment Diabetic Retinopathy Study (appETDRS) letter score, was calculated using recorded Snellen visual acuities. Results A total of 92 eyes of 47 patients (31 females) with mean age of 48.0 ± 18.0 years and mean follow-up of 78.6 ± 42.2 months were included. At the initial visit, 12 eyes (13%) were classified as Stage I AAK, 33 eyes (35.9%) were Stage II, 25 eyes (27.2%) were Stage III, 17 eyes (18.5%) were Stage IV, and 5 eyes (5.4%) were Stage V. Limbal stem cell transplantation (LSCT) and Boston keratoprosthesis (KPro) were frequently performed in eyes with Stages III-V. These advanced corneal surgeries significantly improved the median (95% confidence interval [CI]) of calculated appETDRS scores from 2 (0-20) to 26 (15-41) (Snellen values, 20/20,000 to 20/300; P = 0.0004). Patients with earlier Stages (I-II) of AAK were managed medically and had stable visual acuity through their final visits (appETDRS score of 26 [20-35] to 35 [26-35]; Snellen, 20/300 to 20/200; P > 0.05). The appETDRS VAE was significantly improved from 20 (0-35) to 30 (20-55), Snellen, 20/400 to 20/250, following LSCT (P = 0.021) and from 2 (0-20) to 2 (0-41) after KPro; Snellen, 20/20,000 VAE but with improved 95% CI after follow-up (P = 0.019). Conclusions With proper characterization and staging of AAK, individualized medical and advanced surgical interventions preserves and improves visual acuity.

Background: Congenital aniridia is a rare, panophthalmic disorder that can cause vision loss. Knowledge of aniridia as an isolated ocular abnormality or as a part of systemic abnormalities is important. Management of congenital aniridia should be carried out comprehensively based on it. Objective: To describe clinical features and management of congenital aniridia in a top referral eye hospital in Indonesia. Methods: A retrospective study involving 43 eyes of 22 children (younger than 18 years) diagnosed with congenital aniridia from 2013 to 2018. A detailed history was taken and a complete ophthalmic examination and a systemic examination were performed as required. Clinical characteristics associated with ocular and systemic manifestation and its management were noted. Results: Mean age of patients was 7.6 ± 5.2 years (range 0 - 17 years). Most cases were female (55%) and sporadic (77%). Twenty-one (96%) patients had bilateral involvement at presentation. Foveal hypoplasia was found in 36 eyes (84%), followed by cataract in 26 eyes (61%) and secondary glaucoma in 13 eyes (30%). Nine patients (43%) with cataract had cataract surgery performed. Only 1 patient (5%) with secondary glaucoma underwent filtration surgery. All patients had moderate to severe visual impairment and low vision aid was considered. Regarding its systemic manifestation, none of the patients was diagnosed with an abnormality in the abdomen. Conclusion: There were various ocular features associated with congenital aniridia. Understanding the clinical characteristic and its management could improve the quality of vision in aniridia patients.

In a normally functioning eye, the iris controls the pupil diameter to regulate the amount of light reaching the retina. Various iris deficiencies exist, manifesting as defects in the iris or an absence of one which result in too much light reaching the retina. Some iris deficiencies, such as aniridia or leiomyoma, can be mitigated with fixed or adaptive artificial irises. As an alternative, adaptive transparency glasses may also alleviate this situation, however, both solutions do not mimic the other normal functionality of the natural iris: adaptive aperture. To address this, we developed a fully encapsulated, self-contained artificial iris embedded in a smart contact lens. The control ASIC of the contact lens is developed in 0.18- $\mu \text{m}$ 16-V BCD TSMC and has a typical power consumption of 1.9 $\mu \text{W}$ from a 3-V supply voltage at office light condition.

Purpose: The aim of this study is to analyze the outcome of various techniques for a custom-made iris prosthesis implantation as part of reconstructive anterior segment surgery following traumatic aniridia. Methods: This retrospective interventional study was done for 6 eyes that received an artificial iris as secondary reconstructive measure for photophobia and unsatisfactory vision following initial globe repair. Different implantation techniques were employed. These included simple sulcus implantation, implantation of a composite (iris prosthesis with attached intraocular lens) implant, and combinations with phacoemulsification, vitrectomy, and penetrating keratoplasty. Results: In all cases, the artificial iris was implanted successfully. In the follow-up period (1–48 months), postoperative complications included rhegmatogenous retinal detachment, prolonged intraocular inflammation, and corneal transplant decompensation due to graft rejection. There was no case of secondary glaucoma. Complications could be managed successfully. All patients showed improved best-corrected visual acuity and were satisfied with functional and cosmetic results. Conclusion: This case series highlights the different implantation techniques for reconstruction of the anterior segment after ocular trauma. The versatility of the custom-made iris implant accounts for a wide range of applications and the foldable material reduces the need for large incisions in the already traumatized eye.

Introduction and importance: WAGR syndrome is a rare genetic disorder consist of Wilms tumor, Aniridia, Genitourinary abnormalities, and Intellectual disability. During the enduring COVID-19 pandemic, it has become extremely important to document the properties of SARS-CoV-2 and its interactions with other diseases. Herein, we present the first case of Syrian child with WAGR syndrome that has been affected by COVID-19. Case presentation a 17-month-old boy was diagnosed with WAGR syndrome. During the follow-up, he developed rhinorrhea, cough, and moderate dyspnea with no fever. Computed tomography scan was normal and polymerase chain reaction test was positive. The child started an oxygen therapy with broad-spectrum antibiotics based on laboratory findings. His vital signs and laboratory values improved gradually without any further complications. Discussion COVID-19 has a special interest regarding its course in children. Although the clinical presentation varies, the current data reveal a better prognosis in children. Conclusion SARS-CoV-2 infection may result in non-specific symptoms and normal CT scan findings in children with WAGR syndrome. The accurate diagnosis, effective isolation and monitoring of the child, and successful management can improve the prognosis and shorten the infection period., Highlights • WAGR syndrome is a rare genetic disorder that consists of Wilms tumor, aniridia, genitourinary anomalies, and mental retardation. • COVID-19 may manifest with non-specific symptoms with unremarkable CT scan findings in children with WAGR syndrome. • COVID-19 accurate diagnosis, effective isolation and monitoring, and proper management can improve the prognosis and shorten the infection period. • COVID-19 may have no effects on renal function in patients with WAGR syndrome.

Purpose: To analyze the long-term anatomical survival, functional survival, and complications of Boston type 1 keratoprosthesis (KPro) in the eyes with congenital aniridia-associated keratopathy (AAK).Methods: A retrospective review of 12 eyes with congenital aniridia that underwent a Boston type 1 KPro surgery was conducted. A Kaplan–Meier analysis was performed. Anatomical and functional success criteria were KPro retention and a best corrected visual acuity (BCVA) ≤1.3 LogMAR (≥0.05 decimal) at the end of a follow-up period. Postoperative complications were recorded.Results: The mean preoperative BCVA was 2.1 ± 0.9 (range: 3.8–1) LogMAR, and glaucoma was a comorbidity in all the cases. Five years after the surgery, the overall retention rate was 10/12 (83.3%), and 50% had functional success. Only three (25%) of the 12 cases did not achieve a BCVA ≤1.3 LogMAR. The cumulative probability of anatomical success was 92, 79, and 79% after 1, 5, and 10 years, respectively. The cumulative probability of functional success was 57 and 46% after 1 and 5 years, respectively. The mean anatomical and functional survival time was 10 ± 1.3 (95% IC = 7.5–12.3 years) and 3.8 ± 0.9 years (95% IC = 1.8–5.8 years), respectively. The most common postoperative complication was retroprosthetic membrane (RPM) formation in 8/16 cases (66%). The mean number of complications per case was 2.4 ± 1.8 (0–6).Conclusions: The Boston type 1 KPro is a viable option for patients with AAK with good anatomical and functional long-term results. Glaucoma is an important preoperative condition that affects functional results. Retroprosthetic membrane formation seems to have a higher incidence in this condition.

Open globe injuries are one of the major causes of visual impairment and blindness. Achieving useful visual acuity depends on several factors such as initial visual acuity, presence of relative afferent pupillary defect, mechanism and severity of injury, involvement of ocular structures and proper, prompt diagnosis and treatment. We present a case of a 48-year-old man with bilateral open globe injury to show that poor initial visual acuity does not exclude final useful acuity. In our case severity of the trauma and poor visual acuity were detrimental prognostic factors for visual acuity outcome. Within long-term follow-up with additional surgery procedures of both eyes we have reached a significant visual acuity improvement.

Around 12% of hereditary disease-causing mutations are in-frame nonsense mutations. The expression of genes containing nonsense mutations potentially leads to the production of truncated proteins with residual or virtually no function. However, the translation of transcripts containing premature stop codons resulting in full-length protein expression can be achieved using readthrough agents. Among them, only ataluren was approved in several countries to treat nonsense mutation Duchenne muscular dystrophy (DMD) patients. This review summarizes ataluren’s journey from its identification, via first in vitro activity experiments, to clinical trials in DMD, cystic fibrosis, and aniridia. Additionally, data on its pharmacokinetics and mechanism of action are presented. The range of diseases with underlying nonsense mutations is described for which ataluren therapy seems to be promising. What is more, experiments in which ataluren did not show its readthrough activity are also included, and reasons for their failures are discussed.

Band keratopathy (BK) is a common complication in aphakic eyes with silicone oil tamponade for open-globe injury (OGI), characterized by the grayish-white opacities in the cornea, resulting in a significantly decreased vision when extending to the visual axis. To identify the risk factors for BK in aphakic eyes following vitreoretinal surgical treatment with silicone oil tamponade for OGIs, we performed a multicenter case-control study. The incidence of BK was 28% (28/100 eyes). The multivariate binary logistic regression revealed the silicone oil retention time (SORT) ≥6 months and zone III injury were significant risk factors for BK. From the hierarchical interaction, SORT ≥6 months had a significant risk for BK in eyes with rupture, aniridia, and zone III injury, while zone III injury had a significant risk for BK in eyes with rupture, incomplete/complete iris, and SORT ≥6 months. By using restricted cubic splines with three knots at the 25th, 50th, and 75th centiles to model the association of SORT with BK, we also found a marked increase in the risk for BK at ≥10 months and a slow increase after 6 months, but almost stable within 4–6 months.

Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene (PAX6) has been reported to cause disorders in oculogenesis and neurogenesis. A limited number of cases of diabetes mellitus in adults with a PAX6 mutation suggest that the gene also plays a role in glucose homeostasis. The present case report describes a boy with a PAX6 mutation, born with anophthalmia, who underwent hypoglycemic seizures starting at 5 months old, and showed a prediabetic condition at 60 months. This patient provides novel evidence that connects PAX6 to glucose homeostasis and highlights that life-threatening hypoglycemia or early onset glucose intolerance may be encountered. The role of PAX6 in glucose metabolism and insulin regulation should be further investigated.

Purpose To assess outcomes and glaucoma management in eyes with aniridia following Boston type 1 Keratoprosthesis (KPro) implantation. Design Retrospective, interventional comparative case series. Methods The population included patients with aniridia and patients with other preoperative diagnoses (excluding Stevens-Johnson syndrome, mucous membrane pemphigoid, and congenital disorders) who underwent KPro implantation at Massachusetts Eye and Ear with at least 2 years of follow-up. One eye per patient was selected based on the longer follow-up time. The main outcome was intermediate and long-term outcomes related to glaucoma. Results The aniridia (n = 22) and comparison (n = 61) groups had similar preoperative visual acuity (VA, mean ± standard deviation, 1.86 ± 0.52 logMAR, P = .33) and follow-up time (65.6 ± 26.3 months, P = .25). Before KPro implantation, eyes with aniridia had more glaucoma (76.2%) and glaucoma surgery (57.1%) than comparison eyes (51.8%, P = .053; 23.2%, P = .005, respectively). More Ahmed valves were co-implanted with KPro in aniridia (47.6%) vs comparison eyes (17.9%, P = .008). At final follow-up, more aniridia eyes had glaucoma (90.5%) than comparison eyes (64.3%, P = .02), but the 2 groups had similar percentages of eyes with cup-to-disc ratio (CDR) >0.8 (23.8% vs. 30.4%, P = .57) or CDR progression of ≥0.2 (42.9% vs 44.6%, P = .89, respectively). None of the eyes with prophylactic tube implantation developed glaucoma. Eyes with and without aniridia did not differ in post-KPro VA improvement (72.7%, 72.1%, P = .96), and final VA (1.28 ± 0.79 logMAR, 1.23 ± 0.98 logMAR, P = .51). Conclusion Despite a higher glaucoma prevalence, eyes with aniridia achieved similar VA as comparison eyes with more than 5 years of mean follow-up time. Boston KPro offers satisfactory visual rehabilitation in aniridia when glaucoma is managed aggressively.

Purpose: Aniridia is a rare congenital eye disease, characterized by a constellation of symptoms including hypoplastic irides, foveal hypoplasia, early cataract, corneal stem cell deficienc...

Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI with multiple congenital anomalies. A 2-month-old girl presented with multiple linear and whorling hypopigmentation on the face, trunk, and both extremities and patch alopecia on the scalp. Moreover, she had conical teeth, aniridia of the both eyes, and multiple musculoskeletal problems, including syndactyly and coccyx deviation. Cytogenetic analysis on peripheral blood was normal 46, XX, and no mutation was found in IKBKG gene test.

Objectives To report the results obtained from glaucoma drainage device (GDD) implantation in patients with aniridia-related glaucoma and to review the literature. Materials and methods We retrospectively reviewed 6 patients who underwent GDD implantation for glaucoma secondary to congenital aniridia between April 2001 and February 2015. Data on age at surgery, gender, laterality, surgeries before GDD implantation, GDD model, concomitant ocular disorders, visual acuity, and intraocular pressure (IOP) values before and at 1 and 12 months after GDD implantation, medications, follow-up period, findings during last visit, complications, and course of disease were collected. Results Mean age at surgery was 16.00±12.31 years (range 5-37 years). Mean IOP was 33.00±12.11 (range 22-50) mmHg just before the GDD implantation with a mean of 3.5±1.2 medications. Mean IOP 1 month after implantation was 16.33±4.22 (range 12-24) mmHg with a mean of 1.5±0.8 medications; at 12 months, mean IOP was 19.50±4.76 (range 15-26) mmHg with 3.0±0.8 medications. At the last follow-up visit, IOP was 21.16±4.07 (range 16-26) mmHg with a mean of 3.33±0.51 medications. Mean follow-up was 19.16±8.8 (range 12-36) months. Surgical success rates were 83.3%, 66.6%, and 50.0% at 1 month, 12 months, and the last visit, respectively. Conclusion GDD implantation was effective in controlling aniridic glaucoma with a success rate of 83.3% at 1-month follow-up and 66.6% at 1-year follow-up. Therefore, it should be considered as an initial surgical treatment for aniridic glaucoma; the clinician should be alert for concomitant ocular disorders.