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Aniridia is a congenital and progressive panocular condition with poor visual prognosis that is associated with brain, olfactory, and pancreatic abnormalities. Development of aniridia is linked with nonsense mutations that result in paired box 6 (PAX6) haploinsufficiency. Here, we used a mouse model of aniridia to test the hypothesis that manipulation of Pax6 dosage through a mutation-independent nonsense mutation suppression strategy would limit progressive, postnatal damage in the eye. We focused on the nonsense suppression drugs 3-[5-(2-fluorophenyl)-1,2,4-oxadiazol-3-yl]benzoic acid (ataluren) and gentamicin. Remarkably, we demonstrated that nonsense suppression not only inhibited disease progression but also stably reversed corneal, lens, and retinal malformation defects and restored electrical and behavioral responses of the retina. The most successful results were achieved through topical application of the drug formulation START (0.9% sodium chloride, 1% Tween 80, 1% powdered ataluren, 1% carboxymethylcellulose), which was designed to enhance particle dispersion and to increase suspension viscosity. These observations suggest that the eye retains marked developmental plasticity into the postnatal period and remains sensitive to molecular remodeling. Furthermore, these data indicate that other neurological developmental anomalies associated with dosage-sensitive genetic mutations may be reversible through nonsense suppression therapeutics.

Background The custom-made, flexible artificial iris developed by HumanOptics and Koch can reconstruct the anterior segment of patients with aniridia. The aim of this study was to evaluate the long-term clinical outcome and complication spectrum after artificial iris implantation and the role of the embedded fiber mesh in view of specific complications. Methods In this retrospective interventional case series, patients received an artificial iris between 2004 and 2013. Only eyes with a minimum follow-up period of 2 years were included. Indications were congenital, traumatic, or iatrogenic aniridia. The artificial iris was used either with or without embedded fiber mesh for partial or full prostheses. Results We included 34 patients (mean age 48.8 years; SD ±17.2) with a mean follow-up of 50.0 months (SD ±18.9 months). No repositioning of prostheses was necessary. In cases of keratopathy (17.6 %) visual function increased from baseline mean 1.6 logMAR (SD ±0.7) to 1.2 logMAR (SD ±0.7) after artificial iris implantation. The remaining iris tissue darkened during the follow-up in 23.5 % (83.3 % with and 10.7 % without mesh), 8.8 % developed glaucoma (50 % with and 0 % without mesh) and 14.7 % needed consecutive surgery after prostheses implantation (50 % with and 7.1 % without mesh). In three out of seven trauma cases (42.9 %) silicone oil was spilled into the anterior chamber after 2.5 years on average. Conclusion The artificial iris prosthesis revealed a good clinical outcome in terms of long-term stability, cosmetic appearance, visual function, and represents a good functional iris diaphragm for compartmentalisation. Complications such as glaucoma, darkening of iris tissue, and need for consecutive anterior segment surgery are clearly associated with implants with integrated fiber mesh, but not to those without. Hence, the use of full iris prostheses without embedded fiber mesh, even in cases with remnant iris, and the use of slightly smaller implants than officially recommended may be beneficial.

AimTo evaluate the long-term outcome of black diaphragm intraocular (BDI) lens implantation in traumatic aniridia and investigate the possible cause of long-term complications.MethodsMedical records of 18 patients (18 eyes), who had BDI lens implantation for traumatic aniridia at Shandong Eye Institute from January 1999 to December 2007, were retrospectively reviewed. Ultrasound biomicroscopy was used to observe the position of lens haptics. The difference between the eyes with and without long-term complications was compared.ResultsDuring the follow-up of 41 months (range 12–72), 12 eyes showed a satisfactory visual function, no capsule membrane was present because of pars plana vitrectomy performed before or with lens implantation, and the haptics of BDI lenses were located at the sulcus or trans-sclerally fixed. Four eyes developed refractory glaucoma at 6–36 months after the BDI lens implantation, and three of these had an intact capsule membrane, with the sulcus fixation of the lens haptics in two and trans-scleral fixation in one. Corneal decompensation occurred in six eyes, including the four with glaucoma.ConclusionsBDI lens implantation is safe and effective in most traumatic eyes. Glaucoma and corneal decompensation appear to be the major long-term complications. The position of BDI lens is crucial for the long-term outcome.

A 5 year old boy was presented at Eye clinic University clinical center Tuzla with congenital aniridia in both eyes. Clinical examination revealed visual acuity of 0,08 without correction in right and 0.7 with -5.0 Dsph and -1.0 Dcyl Axx 109° in left eye. Opthalmologic examination showed bilateral aniridia associated with moderate cataract in the right and incipient cataract in the left eye. In the right eye, zonular weakness with incipient capsular displacement and esotropia of Δ6º, were noted. The patient underwent phacoemulsification, implantation of capsular tension ring and Artificial Iris implant in the capsular bag. Phacoemulsification went uneventful and early postoperative recovery was successful with no signs of aniridia-associated keratopathy development and normal values of intra ocular pressure. Patient was not motivated for operation of the left eye and it was corrected with soft contact lens. Six month after the operation visual acuity in the right eye improved to 0.9 with +1.25Dsph and maintained stable in left eye, with complete elimination of esotropia and signs of binocular vision restoration. Small incision cataract extraction with IOL and Artificial Iris implantation in one procedure can be used to correct congenital aniridia and cataract with significant visual function improvement.

Purpose: To characterize the ophthalmological findings, assess surgical outcomes, and review visual outcomes in aniridia. Methods: A retrospective case review was performed and data were collected, including patient demographics, incidence of aniridia-associated keratopathy, glaucoma, cataract, retinal breaks or detachments, optic nerve hypoplasia, macular hypoplasia, poor vision, and nystagmus. All outcomes from surgery, including penetrating keratoplasty, trabeculectomy, Ahmed valve insertion, and cataract extraction, were recorded. Results: Six children (12 eyes) had corneal abnormalities, 4 had optic nerve hypoplasia, 9 had nystagmus, and 2 had retinal detachments. Four patients (7 eyes) required penetrating keratoplasty. Five patients (9 eyes) developed glaucoma and only 1 of the 4 trabeculectomies performed succeeded. Of the 6 Ahmed valve procedures performed, all succeeded in maintaining a satisfactory intraocular pressure but some required needling and 5-fluorouracil. Eight patients developed cataract and 7 required surgery. Visual outcomes were poor despite treatment. Nine patients had Snellen acuity of 6/60 or less and required low visual aids to function. Conclusion: Aniridia is a disorder that requires multiple surgeries. It has a poor visual prognosis despite early diagnosis and aggressive management. Newer techniques such as Ahmed valves and Boston keratoprostheses offer hope, but its proliferative nature makes treatment difficult.

Background This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation. Methods In this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2 mm clear corneal incision. A continuous circular capsulorhexis with <6 mm diameter was employed. A capsular tension ring and HOYA yellow foldable posterior chamber intraocular lens was implanted. All patients wore color contact lenses postoperatively. Paired t test was used to compare visual acuity, intraocular pressure, and corneal endothelial changes before and after surgery. Results A single surgeon performed all surgeries. The best-corrected visual acuity improved from value 1.03 ± 0.27LogMAR preoperatively to value 0.78 ± 0.26LogMAR postoperatively ( p  = 0.000). The photophobic symptoms improved significantly after surgery. The mean corneal endothelial cell density before and after surgery was 3280 ± 473 cells/mm2 and 2669 ± 850 cells/mm2, respectively ( p  = 0.006). None of the patients developed corneal endothelial decompensation or secondary glaucoma after surgery. Conclusions Treatment of congenital aniridia and coexistent cataract by phacoemulsification, posterior chamber foldable lens implantation, capsular tension ring placement was safe and effective. Use of colored contact lenses in the postoperative period can reduce photophobic symptoms in this group of patients. Trial registration ChiCTR-OOC-17011638 (retrospectively registered at 12,June,2017)

WAGR syndrome is characterized by Wilm's tumor, aniridia, genitourinary abnormalities and intellectual disabilities. WAGR is caused by a chromosomal deletion that includes the PAX6, WT1 and PRRG4 genes. PRRG4 is proposed to contribute to the autistic symptoms of WAGR syndrome, but the molecular function of PRRG4 genes remains unknown. The Drosophila commissureless (comm) gene encodes a short transmembrane protein characterized by PY motifs, features that are shared by the PRRG4 protein. Comm intercepts the Robo axon guidance receptor in the ER/Golgi and targets Robo for degradation, allowing commissural axons to cross the CNS midline. Expression of human Robo1 in the fly CNS increases midline crossing and this was enhanced by co-expression of PRRG4, but not CYYR, Shisa or the yeast Rcr genes. In cell culture experiments, PRRG4 could re-localize hRobo1 from the cell surface, suggesting that PRRG4 is a functional homologue of Comm. Comm is required for axon guidance and synapse formation in the fly, so PRRG4 could contribute to the autistic symptoms of WAGR by disturbing either of these processes in the developing human brain.

To assess the prevalence, incidence, and risk factors for the development of glaucoma in patients with aniridia. Retrospective analysis of case records of patients diagnosed as having congenital aniridia between January 1986 and December 2011 was performed. Patients with a follow-up of more than 12 months were included. Ninety-one patients (180 eyes) with the diagnosis of aniridia were identified from the case records. Two eyes were excluded from the final analysis; one had developed phthisis and the other had been enucleated. Seventy-four patients (81.3%) were younger than 18 years at initial presentation. The prevalence of glaucoma at presentation was 28.8%, which could be further categorized as ocular hypertension in 19 eyes (10.5%) and glaucoma in 33 eyes (18.3%). Thirty-one eyes (28.4%) developed elevated intraocular pressure (IOP) during the follow-up period: ocular hypertension in 23 eyes (17.9%) and glaucoma in 8 eyes (6.25%). The mean IOP at the time of diagnosis was 33.9 ± 8.6 mm Hg (range: 24 to 60 mm Hg). The mean duration of follow-up was 8.1 ± 5.7 years (range: 1 to 28 years). The cumulative probability of developing elevated IOP was 4% at the end of 8 years of follow-up; this increased to 88% at the end of 28 years of follow-up. Univariate logistic regression analysis identified higher baseline IOP (odds ratio [OR]: 1.2; 95% confidence interval [CI]: 1.2 to 1.4) and limbal stem cell deficiency (OR: 2.8; 95% CI: 1.4 to 5.6) as significant risk factors for the development of elevated IOP. Higher baseline IOP remained significant on multivariate analysis (OR: 1.2; 95% CI: 1.2 to 1.4). Glaucoma occurs in a substantial proportion of patients with aniridia. Eyes with increased IOP at baseline are at a higher risk. [J Pediatr Ophthalmol Strabismus. 2017;54(4):250-255.].

Optic nerve (ON) aplasia is a rare congenital anomaly. It is characterised by the absence of optic nerve, nerve fibre layer, ganglion cells, and retinal blood vessels. ON aplasia is usually unilateral. Bilateral cases are very rare. We report such a rare case with bilateral ON aplasia and corpus callosum hypogenesis. An 11-month-old male child presented with a history of not seeing or following objects since birth. On examination, the child had microcornea and the absence of an optic disc in both the eyes. In addition, the right eye showed partial aniridia and few rudimentary retinal vessels in the posterior pole, while the left eye showed a chorioretinal coloboma but no evidence of any retinal blood vessels. Flash visual evoked potential was nonrecordable in both the eyes. MRI brain and orbit showed congenital aplasia of the ON on both sides with poorly developed optic chiasm, optic tract, and lateral geniculate body along with the features of corpus callosum hypogenesis. Child had no other systemic or endocrinological abnormalities.

Background Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13 . Deletion of BDNF is known eto be associated with hyperphagia and obesity in both humans and animal models; however, neuroendocrine and epigenetic profiles of individuals with WAGR syndrome remain to be determined. Case presentation We report a 5-year-old girl with the typical phenotype of WAGR syndrome. She showed profound delays in physical growth, motor and cognitive development without signs of obesity. Array comparative genome hybridization (CGH) revealed that she carried a 14.4 Mb deletion at 11p14.3p12, encompassing the WT1 , PAX6 and BDNF genes. She experienced recurrent hypoglycemic episodes at 5 years of age. Insulin tolerance and hormonal loading tests showed normal hypothalamic responses to the hypoglycemic condition and other stimulations. Methylation analysis for freshly prepared DNA from peripheral lymphocytes using the pyro-sequencing-based system showed normal patterns of methylation at known imprinting control regions. Conclusions Children with WAGR syndrome may manifest profound delay in postnatal growth through unknown mechanisms. Epigenetic factors and growth-associated genes in WAGR syndrome remain to be characterized.