- Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants. [Journal Article]J Appl Genet 2019JA
- Zellweger spectrum disorders (ZSD) constitute a group of rare autosomal recessive disorders characterized by a defect in peroxisome biogenesis due to mutations in one of 13 PEX genes. The broad clinical heterogeneity especially in late-onset presenting patients and a mild phenotype complicates and delays the diagnostic process. Here, we report a case of mild ZSD, due to novel PEX1 variants. The p…
Zellweger spectrum disorders (ZSD) constitute a group of rare autosomal recessive disorders characterized by a defect in peroxisome biogenesis due to mutations in one of 13 PEX genes. The broad clinical heterogeneity especially in late-onset presenting patients and a mild phenotype complicates and delays the diagnostic process. Here, we report a case of mild ZSD, due to novel PEX1 variants. The patient presented with an early hearing loss, bilateral cataracts, and leukodystrophy on magnetic resonance (MR) images. Normal results of serum very-long-chain fatty acids (VLCFA) and phytanic acid were found. Molecular diagnostics were performed to uncover the etiology of the clinical phenotype. Using whole exome sequencing, there have been found two variants in the PEX1 gene-c.3450T>A (p.Cys1150*) and c.1769T>C (p.Leu590Pro). VLCFA measurement in skin fibroblasts and C26:0-lysoPC in dried blood spot therefore was performed. Both results were in line with the diagnosis of ZSD. To conclude, normal results of routine serum VLCFA and branched-chain fatty acid measurement do not exclude mild forms of ZSD. The investigation of C26:0-lysoPC should be included in the diagnostic work-up in patients with cataract, hearing loss, and leukodystrophy on MR images suspected to suffer from ZSD.
- [Sumbawanga eye camp follow-up study 2019]. [Journal Article]Ophthalmologe 2019O
- CONCLUSIONS: Although the vision improved, the results are sobering when taken in the context of the WHO guidelines. The postoperative refraction showed a myopic shift and an high level of astigmatism. The reasons are manifold: ocular comorbidities, limited diagnostic and therapeutic possibilities in a nonclinical setting. Other factors are the kind of training of the staff in the camp, the difficult circumstances and advanced findings. Consideration of the results of this study is imperative to be able to measure the quality of the work and to create the potential to make future improvements.
- Population-based assessment of visual impairment and pattern of corneal disease: results from the CORE (Corneal Opacity Rural Epidemiological) study. [Journal Article]Br J Ophthalmol 2019BJ
- CONCLUSIONS: The data from this study give an insight into the characteristics of various corneal pathologies and resulting VI in the general population. This is a pioneer study involving all age groups on the burden of VI due to corneal diseases.
- Use of Human Pluripotent Stem Cells to Define Initiating Molecular Mechanisms of Cataract for Anti-Cataract Drug Discovery. [Review]Cells 2019; 8(10)C
- Cataract is a leading cause of blindness worldwide. Currently, restoration of vision in cataract patients requires surgical removal of the cataract. Due to the large and increasing number of cataract patients, the annual cost of surgical cataract treatment amounts to billions of dollars. Limited access to functional human lens tissue during the early stages of cataract formation has hampered effo…
Cataract is a leading cause of blindness worldwide. Currently, restoration of vision in cataract patients requires surgical removal of the cataract. Due to the large and increasing number of cataract patients, the annual cost of surgical cataract treatment amounts to billions of dollars. Limited access to functional human lens tissue during the early stages of cataract formation has hampered efforts to develop effective anti-cataract drugs. The ability of human pluripotent stem (PS) cells to make large numbers of normal or diseased human cell types raises the possibility that human PS cells may provide a new avenue for defining the molecular mechanisms responsible for different types of human cataract. Towards this end, methods have been established to differentiate human PS cells into both lens cells and transparent, light-focusing human micro-lenses. Sensitive and quantitative assays to measure light transmittance and focusing ability of human PS cell-derived micro-lenses have also been developed. This review will, therefore, examine how human PS cell-derived lens cells and micro-lenses might provide a new avenue for development of much-needed drugs to treat human cataract.
- Evaluation of tear and aqueous humor level, and genetic variants of connective tissue growth factor as biomarkers for early detection of pseudoexfoliation syndrome/glaucoma. [Journal Article]Exp Eye Res 2019; :107837EE
- Pseudoexfoliation syndrome (PEX) may lead to the development of pseudoexfoliative glaucoma (PEG), a potential cause of irreversible blindness, if left untreated. This type of glaucoma often presents with much higher intraocular pressure (IOP) values than observed in primary open angle glaucoma, and patients are often unaware of their condition. Therefore, early diagnosis is of utmost importance i…
Pseudoexfoliation syndrome (PEX) may lead to the development of pseudoexfoliative glaucoma (PEG), a potential cause of irreversible blindness, if left untreated. This type of glaucoma often presents with much higher intraocular pressure (IOP) values than observed in primary open angle glaucoma, and patients are often unaware of their condition. Therefore, early diagnosis is of utmost importance in PEX and PEG. Unfortunately, no valid objective biomarkers are available that can be used for this purpose. The excessive synthesis and deposition of elastic microfibrillar pseudoexfoliation material is observed in the pathophysiology of PEX, therefore, growth factors may play roles in this pathology. Thus, in this study, we sought to determine the roles of phenotypes and genotypes of connective tissue growth factor (CTGF) as objective biomarkers for early diagnosis of PEX and PEG. Thus, we investigated possible associations involving tear and aqueous humor CTGF concentrations and four single nucleotide polymorphisms (SNPs) of the CTGF gene in PEX and PEG. The study was designed as a 2-year case-control study in the Turkish population. Study population was composed of 214 patients with PEG, 214 patients with PEX, and 214 age-matched controls for CTGF SNP analysis. Tear fluid study group consisted of 78 patients with PEG, 77 patients with PEX, and 78 controls. Aqueous humor analysis included 8 patients with PEG, 17 patients with PEX, and 23 controls. Tear fluid was collected using Schirmer strips, and aqueous humor samples were taken during cataract surgery. CTGF concentration was determined by ELISA, and total protein concentration was determined by Bradford assay in tear and aqueous humor samples. PCR followed by restriction fragment length polymorphism analysis was used for genotyping of rs6918698 G/C and rs9399005 C/T, while real-time PCR was used for rs9402373 C/G and rs12526196 T/C. Intraocular pressure, visual field score, mean deviation, and pattern standard deviation parameters were also evaluated. CTGF concentration in tear fluid was significantly higher in PEG patients compared with controls (P = 0.001), while it was lower in PEX patients. Similarly, total protein concentration in tear fluid was significantly increased in PEG patients relative to PEX patients (P = 0.026) and controls (P = 0.004). CTGF concentration in aqueous humor did not differ markedly between the groups, whereas total protein was significantly higher in the PEG group compared with the PEX group (P = 0.012) and controls (P = 0.003). Receiver operating characteristic analysis revealed that total protein in aqueous humor was a robust classifier for evaluating the presence of PEG against controls (Area under the curve = 0.897, P = 0.001). The genotypes of the studied SNPs were not significantly correlated with CTGF concentration in aqueous humor or tear fluid, and did not exhibit significant association with PEG or PEX. In conclusion, this was the first study to investigate tear fluid CTGF concentration in PEX and PEG, which came out not to be a good classifier for PEG or PEX. Total protein level in tear fluid and CTGF SNPs also did not predict PEG or PEX status successfully.
- Ionising radiation and lens opacities in interventional physicians: results of a German pilot study. [Journal Article]J Radiol Prot 2019; 39(4):1041-1059JR
- We assessed the feasibility of an epidemiological study on the risk of radiation-related lens opacities among interventional physicians in Germany. In a regional multi-centre pilot study associated with a European project, we tested the recruitment strategy, a European questionnaire on work history for the latter dosimetry calculation and the endpoint assessment. 263 interventional physicians and…
We assessed the feasibility of an epidemiological study on the risk of radiation-related lens opacities among interventional physicians in Germany. In a regional multi-centre pilot study associated with a European project, we tested the recruitment strategy, a European questionnaire on work history for the latter dosimetry calculation and the endpoint assessment. 263 interventional physicians and 129 non-exposed colleagues were invited. Questionnaires assessed eligibility criteria, risk factors for cataract, and work history relating to occupational exposure to ionising radiation, including details on type and amount of procedures performed, radiation sources, and use of protective equipment. Eye examinations included regular inspection by an ophthalmologist, digital slit lamp images graded according to the lens opacities classification system, and Scheimpflug camera measurements. 46 interventional (17.5%) and 30 non-exposed physicians (23.3%) agreed to participate, of which 42 and 19, respectively, met the inclusion criteria. Table shields and ceiling suspended shields were used as protective equipment by 85% and 78% of the interventional cardiologists, respectively. However, 68% of them never used lead glasses. More, although minor, opacifications were diagnosed among the 17 interventional cardiologists participating in the eye examinations than among the 18 non-exposed (59% versus 28%), mainly nuclear cataracts in interventional cardiologists and cortical cataracts in the non-exposed. Opacification scores calculated from Scheimpflug measurements were higher among the interventional cardiologists, especially in the left eye (56% versus 28%). Challenges of the approach studied include the dissuading time investment related to pupil dilatation for the eye examinations, the reliance on a retrospective work history questionnaire to gather exposure-relevant information for dose reconstructions and its length, resulting in a low participation rate. Dosimetry data are bound to get better when the prospective lens dose monitoring as foreseen by 2013 European Directives is implemented and doses are recorded.
- Systematic Review and Meta-Analysis of Comparing Phacoemulsification Combined with goniosynechialysis to other mainstream procedures in treating patients with angle-closure glaucoma. [Journal Article]Medicine (Baltimore) 2019; 98(42):e17654M
- CONCLUSIONS: Phaco-GSL might be an optimal procedure to treat ACG with concomitant cataract due to its bleb-less nature, and its capacity for lowering IOP seems superior to Phaco alone and comparable to Phaco-trabeculectomy/trabeculectomy.
- Visual acuity and defocus curves with six multifocal intraocular lenses. [Journal Article]
- CONCLUSIONS: The extended depth of focus of the Symfony ZXR00 offers a superior range of clear vision at far and intermediate distances than other multifocal designs, with worse results at near distance. Visual outcomes reflect the particular optical, geometrical and power distribution characteristics of each IOL.
- Scanning electron microscopy study of different one-piece foldable acrylic intraocular lenses after injection through microincisional cataract surgery cartridges. [Journal Article]
- CONCLUSIONS: All lenses showed excellent surface quality. After folding and injection process some superficial scratches and tears of the IOL optic were detected in some models. Further studies are needed to assess the possible effects of those superficial damages on the optical quality of the IOLs.
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- Factors affecting pain in patients undergoing bilateral cataract surgery. [Journal Article]
- CONCLUSIONS: Female patients, patients with a younger age, and patients with higher education level are likely to report more pain. Patients who require bilateral cataract surgery should not undergo the second surgery before an interval of 2 weeks.