The Triple Procedure in Patients with Congenital Aniridia.

Aniridia is a rare panocular, bilateral, and congenital disease characterized by complete or partial iris hypoplasia and foveal hypoplasia, leading to decreased visual acuity and nystagmus. AAK, also referred to as aniridic keratopathy, manifests as corneal surface damage, epithelial thinning or loss, inflammation with immune cell infiltration, vascularization, and chronic progressive opacification. Twenty-one eyes in eighteen patients with aniridia underwent the triple procedure for visual rehabilitation.

Diagnostic Challenges of Axenfeld-Rieger Syndrome and a Novel FOXC1 Gene Mutation in a Polish Family.

(1) Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, the symptoms of which include both ocular and systemic abnormalities. In the studied subjects, the cornea was significantly opacified with peripheral scarring neovascularization, which is not specific to this syndrome. A suspicion of incorrect diagnosis was raised despite an initial diagnosis of a bilateral Chandler syndrome.

The use of rh-NGF in the management of neurotrophic keratopathy.

Neurotrophic keratitis or keratopathy (NK) is a degenerative corneal disease induced by impairment of the trigeminal nerve function. This condition may lead to persistent epithelial defects, corneal ulceration, and perforation. The diagnosis of NK requires a careful investigation of any ocular and systemic condition associated with the disease and ocular surface and corneal sensitivity examinations.

Superficial Keratectomy Alone versus in Combination with Amniotic Membrane Transplantation in Aniridia-Associated Keratopathy and a Short-Term Clinical Outcome.

: Aniridia-associated keratopathy (AAK) is a potentially vision-threatening pathology in congenital aniridia, for which both the underlying etiopathogenesis and effective treatment remain unclear. :This prospective study was conducted to assess and compare the short-term outcome after superficial keratectomy (SK) alone or in a combination with an amniotic membrane transplantation (AMT). Here, 76 eyes were enrolled in 76 patients with grade 4 AAK.

Retropupillary Iris-fixated versus Sutured Scleral-fixated Intraocular Lenses.

To compare the anatomical and functional results and patient satisfaction following retropupillary implantation of Artisan Aphakia iris-fixated intraocular lens (rAAIF) and sutured scleral fixated intraocular lens (SFIOL). We presented a prospective double-arm non-blinded study. Forty-one eyes with acquired aphakia, no age-related macular degeneration, no previous keratoplasty, no combined procedures, no AC reaction (cells, fibrin), normal intraocular pressure, no history of endothelial corneal dystrophy in relatives or fellow eye were included.

General Treatment and Ophthalmic Management of Peters' Anomaly.

Peters' anomaly (PA) is a manifestation of complex disorders in the development of the anterior segment of the eye. The most recognizable feature of the disease is a doughnut-shaped central corneal opacity and adhesions between the opacity and underlying iris. Glaucoma is observed in 30-70% of patients, with up to 50% of the patients showing concomitant vision-threatening disorders.

An Analysis of the Progression of Conjunctivalisation after Transplantation of Cultivated Corneal Epithelium.

Purpose: To analyse the recurrence of superficial neovascularisation after previous corneal surface reconstruction with cultivated corneal epithelial cells.

Materials And Methods: Forty-eight eyes underwent autologous transplantation of cultivated corneal epithelium to treat partial or total limbal stem cell deficiency caused by chemical or thermal injury. The carrier for the epithelial sheets was a denuded amniotic membrane.

Longitudinal Changes of Quality of Life and Hearing Following Radiosurgery for Vestibular Schwannoma.

Background: Most existing publications on quality of life (QoL) following stereotactic radiosurgery (SRS) for vestibular schwannomas (VS) gather information retrospectively by conducting surveys several years after treatment. The purpose of this study is therefore to provide longitudinal QoL data and assess how changes in hearing impact QoL.

Methods: Patients completed the 12-item short-form (SF-12) health survey prior to treatment and at every follow-up visit.

Double vision in Parkinson's Disease: a systematic review.

Introduction: The prevalence of diplopia in Parkinson's disease (PD) ranges from 10% to 30%. Diplopia is usually limited to specific situations such as reading and looking around, however, it can also be constant. The aim of this review, supplemented by two case studies, was to summarise current knowledge on the frequency, possible causes, differential diagnosis, pathophysiology and treatment approaches to double vision in PD patients.

Abnormal neovascular and proliferative conjunctival phenotype in limbal stem cell deficiency is associated with altered microRNA and gene expression modulated by PAX6 mutational status in congenital aniridia.

Purpose: To evaluate conjunctival cell microRNA (miRNAs) and mRNA expression in relation to observed phenotype of progressive limbal stem cell deficiency in a cohort of subjects with congenital aniridia with known genetic status.

Methods: Using impression cytology, bulbar conjunctival cells were sampled from 20 subjects with congenital aniridia and 20 age and sex-matched healthy control subjects. RNA was extracted and miRNA and mRNA analyses were performed using microarrays.

Clinical Results After Single-fraction Radiosurgery for 1,002 Vestibular Schwannomas.

Background Herein, we report clinical results for patients treated with stereotactic radiosurgery (SRS) for vestibular schwannomas (VS) over a period of 10 years. Methods Clinical data and imaging follow-up were stored in a database of 1,378 patients, with 1,384 VS treated consecutively between 2005 and 2018 and analyzed retrospectively. A total of 996 patients with 1,002 tumors with at least one year of follow-up were included for analysis.

Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations.

Purpose: To investigate corneal phenotype in aniridia-associated keratopathy (AAK) including its earliest manifestations, in relation to PAX6 mutational status.

Methods: 46 subjects (92 eyes) with congenital aniridia from a German registry were examined using slit lamp biomicroscopy, anterior segment optical coherence tomography, contact esthesiometry and in vivo confocal microscopy. Cytogenetic analysis was conducted by Sanger sequencing of PAX6 exons and/or MLPA analysis.

Simple limbal epithelial transplantation: a review on current approach and future directions.

Simple limbal epithelial transplantation is a recently developed technique for treating limbal stem cell deficiency caused by ocular burns. A small limbal biopsy from the donor eye, usually from the patient's healthy eye, is excised and dissected into multiple pieces. An amniotic membrane is atttached using fibrin glue on the diseased eye after removing the conjunctivalized pannus from the corneal surface.

Stage-related central corneal epithelial transformation in congenital aniridia-associated keratopathy.

Purpose: To relate central corneal epithelial phenotype to degree of keratopathy in a limbal stem cell deficient population.

Methods: 37 patients (67 eyes) with aniridia-associated keratopathy (AAK) underwent corneal examination including slit lamp biomicroscopy to determine the Grade of AAK, Cochet-Bonnet esthesiometry, and in vivo confocal microscopy (IVCM) to assess morphology of the central corneal epithelium and subepithelial region.

Results: AAK Grade ranged from 1 (limbal involvement only) to 4 (total conjunctivalization), with progression from Grade 1 occurring after the age of 20.

Corneal confocal sub-basal nerve plexus evaluation: a review.

The aim of this study was to review the most recent data about corneal sub-basal nerve plexus (SNP) evaluated with the use of corneal confocal microscopy (CCM). For this purpose, an electronic search was conducted based on PubMed and Google Scholar and Web of Science databases from 2008 up to the end of 2016. Ninety-eight articles in English were cited, as well as abstracts in other languages, concerning the morphology and function of corneal SNP in various diseases.

Use of autologous epithelium transplantation on various scaffolds to cover tissue loss in oral cavity: long-term observation.

Background: The aim of this study was to investigate the application of mucous membrane keratinocyte cultures on amniotic membrane and on poly(L-lactic acid) (PLLA) Purasorb PL38 to cover tissue loss in the oral cavity. Developments in molecular biology techniques and tissue engineering allow the culturing and identification of cells that can be anchored in the wound to achieve integrity of the tissue. Transplantation of tissues obtained from the patient's own cells is superior to allogenous transplantation where there is a possibility of transfection, rejection and the need for long-term immunosuppression.

Quality of life in the follow-up of uveal melanoma patients after enucleation in comparison to CyberKnife treatment.

Purpose: To compare quality of life (QoL) in patients with uveal melanoma after enucleation and stereotactic radiosurgery to that in an age-matched patient collective.

Methods: QoL was assessed in a cross-sectional survey and compared among 32 uveal melanoma patients after enucleation, 48 patients after stereotactic radiosurgery (CyberKnife(®); Accuray(®) Incorporated, Sunnyvale, CA, USA), and an age-matched control group of 35 patients, using the SF-12 Health Survey. Statistical analysis was performed with Fisher's exact test, Student's t test, one-way ANOVA analysis, Wilcoxon rank-sum (Mann-Whitney test), and ordered logistic regression for multivariate analysis.

Robotic radiosurgery for the treatment of medium and large uveal melanoma.

The aim of the study was to analyze the local efficacy and eye retention rate after frameless, image-guided robotic radiosurgery against uveal melanoma. A total of 217 patients, mostly with medium and large unilateral uveal melanomas (3% small, 62% medium, and 35% large) were treated. The median age was 64 years (range 21-95 years).

Cultivated Oral Mucosa Epithelium in Ocular Surface Reconstruction in Aniridia Patients.

Purpose: Efficacy of cultivated oral mucosa epithelial transplantation (COMET) procedure in corneal epithelium restoration of aniridia patients.

Methods: Study subjects were aniridia patients (13 patients; 17 eyes) with irregular, vascular conjunctival pannus involving visual axis who underwent autologous transplantation of cultivated epithelium. For the procedure oral mucosa epithelial cells were obtained from buccal mucosa with further enzymatic treatment.

A novel proteotoxic stress associated mechanism for macular corneal dystrophy.

Macular corneal dystrophy is a rare autosomal recessive eye disease affecting primarily the corneal stroma. Abnormal accumulation of proteoglycan aggregates has been observed intra- and extracellularly in the stromal layer. In addition to the stromal keratocytes and corneal lamellae, deposits are also present in the basal epithelial cells, endothelial cells and Descemet's membrane.

CyberKnife robotic spinal radiosurgery in prone position: dosimetric advantage due to posterior radiation access?

CyberKnife spinal radiosurgery suffers from a lack of posterior beams due to workspace limitations. This is remedied by a newly available tracking modality for fiducial-free, respiration-compensated spine tracking in prone patient position. We analyzed the potential dosimetric benefit in a planning study.

Single fraction radiosurgery for the treatment of renal tumors.

Purpose: High dose local stereotactic radiosurgery was performed in select patients to improve local tumor control and overall survival. We report on patients with renal tumors treated with single fraction robotic stereotactic radiosurgery.

Materials And Methods: A total of 40 patients with a median age of 64 years who had an indication for nephrectomy and subsequent hemodialysis were entered in a prospective case-control study of single fraction stereotactic radiosurgery.

Quality of life in the follow-up of uveal melanoma patients after CyberKnife treatment.

To assess quality of life in uveal melanoma patients within the first and second year after CyberKnife radiosurgery. Overall, 91 uveal melanoma patients were evaluated for quality of life through the Short-form (SF-12) Health Survey at baseline and at every follow-up visit over 2 years after CyberKnife radiosurgery. Statistical analysis was carried out using SF Health Outcomes Scoring Software and included subgroup analysis of patients developing secondary glaucoma and of patients maintaining a best corrected visual acuity (BCVA) of the treated eye of 0.