Corneal Neovascularization with Associated Lipid Keratopathy in a Patient with Obstructive Sleep Apnea-Hypopnea Syndrome Using a Continuous Positive Airway Pressure Machine.

To report a case of corneal neovascularization with secondary lipid keratopathy in a patient treated with continuous positive airway pressure (CPAP) for obstructive sleep apnea-hypopnea syndrome (OSAHS). A 49-year-old male had been diagnosed with obstructive sleep apnea syndrome 10 years ago and has been treated with the application of a CPAP machine during night sleep ever since. For the past year, the patient had been complaining for ocular irritation and excessive tearing of the left eye on awakening. Slit-lamp biomicroscopy revealed the presence of neovascularization and lipid exudation in the inferior third of the cornea of the left eye. Ocular patching during night sleep resulted in recession of the reported symptoms and shrinkage of the neovascularization, while the area of lipid exudation ceased to enlarge. To the best of our knowledge, this is the first report of corneal neovascularization in a patient using a CPAP machine for OSAHS

Prospective study comparing Xalatan® eye drops and two similar generics as to the efficacy and safety profile

Purpose: To evaluate the efficacy and safety between two generic prostaglandins Lataz–Xalaprost (Greece) and the corresponding original drops (Xalatan®). Material and methods: In this prospective randomized study, 60 patients diagnosed with open-angle glaucoma or ocular hypertension were enrolled, who had never received antiglaucoma treatment. Subjects were divided randomly into three groups (Xalatan, Lataz, and Xalaprost groups) and they were studied over 16 weeks. At each visit, the mean applanation tonometry values and tear break-up time were measured. The Ocular Surface Disease Index questionnaire was used to evaluate patient’s symptoms. Results: There was a statistically significant difference (p < 0.001) in the mean values of the intraocular pressure between the baseline and the last visit (Xalatan group: from 23.11 ± 1.61 mmHg to 15.81 ± 1.22 mmHg, Lataz group: from 23.26 ± 1.33 mmHg to 15.80 ± 1.47 mmHg, and Xalaprost group: from 23.08 ± 1.45 mmHg to 16.08 ± 1.38 mmHg). Both generic eye drops showed mean percentage intraocular pressure reduction comparable to the standards of prostaglandin analogues (Xalatan: 31.57%, Lataz: 32.06%, and Xalaprost: 30.34%). Xalatan reduced the tear break-up time less, followed by Lataz and then by Xalaprost (Xalatan: from 8.5 to 8 s, Lataz: from 8.2 to 7.4 s, and Xalaprost: from 8.7 to 7.7 s). Xalatan presented the best safety profile, followed by Lataz and least was Xalaprost, according to Ocular Surface Disease Index questionnaire’s results. Conclusion: No significant difference was recorded in the effectiveness of each generic prostaglandin compared to the original. Furthermore, no patient had to change medication. The differences that arose in the safety profile of the three eye drops suggest a prompt closer initial monitoring of patients who are administered generic eye drops. © The Author(s) 2018

Epithelial map-guided anterior stromal micropuncture for the treatment of recurrent corneal erosion syndrome.

To introduce the use of corneal epithelial mapping by anterior segment optical coherence tomography (AS-OCT) as an ancillary testing for the identification of areas of loose epithelial adherence in recurrent corneal erosion syndrome (RCES), and the subsequent treatment of the latter with anterior stromal puncture (ASP). Five patients were presented with RCES following traumatic corneal abrasions. Following resolution of acute episodes, AS-OCT epithelial mapping was performed revealing in all patients an area of increased epithelial thickness (hot spot) corresponding to the site of loose attachment of the epithelium to the epithelial basement membrane. ASP to the area of epithelial thickening, as delineated by the epithelial map, was performed. To date, none of the patients has shown any signs of disease recurrence over a period ranging from 6 to 20 months following the application of epithelial map-guided ASP. AS-OCT epithelial mapping can reveal the exact area of loose epithelial adherence in RCES. Hence, epithelial mapping can delineate the target area for treatment with ASP and may decrease the high failure rates of ASP

Epithelial map-guided anterior stromal micropuncture for the treatment of recurrent corneal erosion syndrome

Purpose: To introduce the use of corneal epithelial mapping by anterior segment optical coherence tomography (AS-OCT) as an ancillary testing for the identification of areas of loose epithelial adherence in recurrent corneal erosion syndrome (RCES), and the subsequent treatment of the latter with anterior stromal puncture (ASP). Methods: Five patients were presented with RCES following traumatic corneal abrasions. Following resolution of acute episodes, AS-OCT epithelial mapping was performed revealing in all patients an area of increased epithelial thickness (hot spot) corresponding to the site of loose attachment of the epithelium to the epithelial basement membrane. ASP to the area of epithelial thickening, as delineated by the epithelial map, was performed. Results: To date, none of the patients has shown any signs of disease recurrence over a period ranging from 6 to 20 months following the application of epithelial map-guided ASP. Conclusions: AS-OCT epithelial mapping can reveal the exact area of loose epithelial adherence in RCES. Hence, epithelial mapping can delineate the target area for treatment with ASP and may decrease the high failure rates of ASP. © 2018, Springer Science+Business Media B.V., part of Springer Nature

Further delineation of novel 1p36 rearrangements by array-CGH analysis: Narrowing the breakpoints and clarifying the "extended" phenotype

High resolution oligonucleotide array Comparative Genome Hybridization technology (array-CGH) has greatly assisted the recognition of the 1p36 contiguous gene deletion syndrome. The 1p36 deletion syndrome is considered to be one of the most common subtelomeric microdeletion syndromes and has an incidence of ~. 1 in 5000 live births, while respectively the "pure" 1p36 microduplication has not been reported so far.We present seven new patients who were referred for genetic evaluation due to Developmental Delay (DD), Mental Retardation (MR), and distinct dysmorphic features. They all had a wide phenotypic spectrum. In all cases previous standard karyotypes were negative. Array-CGH analysis revealed five patients with interstitial 1p36 microdeletion (four . de novo and one maternal) and two patients with . de novo reciprocal duplication of different sizes. These were the first reported "pure" 1p36 microduplication cases so far. Three of our patients carrying the 1p36 microdeletion syndrome were also found to have additional pathogenetic aberrations. These findings (del 3q27.1; del 4q21.22-q22.1; del 16p13.3; dup 21q21.2-q21.3; del Xp22.12) might contribute to the patients' severe phenotype, acting as additional modifiers of their clinical manifestations. We review and compare the clinical and array-CGH findings of our patients to previously reported cases with the aim of clearly delineating more accurate genotype-phenotype correlations for the 1p36 syndrome that could allow for a more precise prognosis. © 2012 Elsevier B.V

Corneal Neovascularization with Associated Lipid Keratopathy in a Patient with Obstructive Sleep Apnea-Hypopnea Syndrome Using a Continuous Positive Airway Pressure Machine

Objective: To report a case of corneal neovascularization with secondary lipid keratopathy in a patient treated with continuous positive airway pressure (CPAP) for obstructive sleep apnea-hypopnea syndrome (OSAHS). Case Report: A 49-year-old male had been diagnosed with obstructive sleep apnea syndrome 10 years ago and has been treated with the application of a CPAP machine during night sleep ever since. For the past year, the patient had been complaining for ocular irritation and excessive tearing of the left eye on awakening. Slit-lamp biomicroscopy revealed the presence of neovascularization and lipid exudation in the inferior third of the cornea of the left eye. Ocular patching during night sleep resulted in recession of the reported symptoms and shrinkage of the neovascularization, while the area of lipid exudation ceased to enlarge. Conclusion: To the best of our knowledge, this is the first report of corneal neovascularization in a patient using a CPAP machine for OSAHS. © 2017 2017 The Author(s)

Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism

Molecular and neurobiological evidence for the involvement of neuroligins (particularly NLGN3 and NLGN4X genes) in autistic disorder is accumulating. However, previous mutation screening studies on these two genes have yielded controversial results. The present study explores, for the first time, the contribution of NLGN3 and NLGN4X genetic variants in Greek patients with autistic disorder. We analyzed the full exonic sequence of NLGN3 and NLGN4X genes in 40 patients strictly fulfilling the Diagnostic and Statistical Manual of Mental Disorders, 4th ed. criteria for autistic disorder. We identified nine nucleotide changes in NLGN4X - one probable causative mutation (p.K378R) previously reported by our research group, one novel variant (c.-206G>C), one nonvalidated single nucleotide polymorphism (SNP, rs111953947), and six known human SNPs reported in the SNP database - and one known human SNP in NLGN3 also reported in the SNP database. The variants identified are expected to be benign. However, they should be investigated in the context of variants in interacting cellular pathways to assess their contribution to the etiology of autism. © 2013 Wolters Kluwer Health | Lippincott Williams and Wilkins