PURPOSE: Posterior corneal vesicles (PCVs) have clinical features that are similar to posterior polymorphous corneal dystrophy (PPCD). To help determine whether there is a shared genetic basis, we screened 38 individuals with PCVs for changes in the three genes identified as causative for PPCD. METHODS: We prospectively recruited patients for this study. We examined all individuals clinically, with their first-degree relatives when available. We used a combination of Sanger and exome sequencing to screen regulatory regions of OVOL2 and GRHL2, and the entire ZEB1 coding sequence. RESULTS: The median age at examination was 37.5 years (range 4.7-84.0 years), 20 (53%) were male and in 19 (50%) the PCVs were unilateral. Most individuals were discharged to optometric review, but five had follow-up for a median of 12 years (range 5-13 years) with no evidence of progression. In cases with unilateral PCVs, there was statistically significant evidence that the change in the affected eye was associated with a lower endothelial cell density (p = 0.0003), greater central corneal thickness (p = 0.0277) and a steeper mean keratometry (p = 0.0034), but not with a higher keratometric astigmatism or a reduced LogMAR visual acuity. First-degree relatives of 13 individuals were available for examination, and in 3 (23%), PCVs were identified. No possibly pathogenic variants were identified in the PPCD-associated genes screened. CONCLUSION: We found no evidence that PCVs share the same genetic background as PPCD. In contrast to PPCD, we confirm that PCVs is a mild, non-progressive condition with no requirement for long-term review. However, subsequent cataract surgery can lead to corneal oedema.
- MeSH
- astigmatismus * MeSH
- dědičné dystrofie rohovky * diagnóza genetika MeSH
- dítě MeSH
- dospělí MeSH
- edém rohovky * MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- předškolní dítě MeSH
- rohovka patologie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- transkripční faktory genetika MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
AIMS: Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder. The aim of this study was to review ZNF469 mutations associated with BCS type 1 to date and to describe an additional case of Czech/Polish background. METHODS: Whole genome sequencing was undertaken to identify the molecular genetic cause of disease in the proband. Sequence variants in ZNF469 previously reported as BCS type 1-causing were searched in the literature, manually curated and aligned to the reference sequence NM_001127464.2. RESULTS: The proband has been reviewed since childhood with progressive myopia and hearing loss. Aged 13 years had been diagnosed with Stickler syndrome. Aged 16.5 years, he developed acute hydrops in the left eye managed by corneal transplantation. At the age of 26, he experienced right corneal rupture after blunt trauma, also managed by grafting. He had a number of secondary complications and despite regular follow-up and timely management, the right eye became totally blind and the left eye had light perception at the last follow-up visit, aged 42. He was found to be a compound heterozygote for two novel mutations c.1705C>T; p.(Gln569*) and c.1402_1411del; p.(Pro468Alafs*31) in ZNF469. In total 22 disease-causing variants in ZNF469 have been identified, mainly in consanguineous families or endogamous populations. Only four probands, including the case described in the current study, harboured compound heterozygous mutations. CONCLUSION: BCS occurs very rarely in outbred populations which may cause diagnostic errors due to poor awareness of the disease. Investigation into the underlying molecular genetic cause in patients with connective tissue disorders may lead to a re-evaluation of their clinical diagnosis.
- MeSH
- abnormality očí diagnóza genetika patofyziologie MeSH
- artritida diagnóza MeSH
- chybná diagnóza MeSH
- dospělí MeSH
- edém rohovky patofyziologie chirurgie MeSH
- glaukom patofyziologie chirurgie MeSH
- heterozygot MeSH
- keratoplastika perforující MeSH
- kožní abnormality diagnóza genetika patofyziologie MeSH
- lidé MeSH
- myopie patofyziologie MeSH
- nemoci pojiva diagnóza MeSH
- nestabilita kloubu vrozené diagnóza genetika patofyziologie MeSH
- odchlípení sítnice diagnóza patofyziologie chirurgie MeSH
- percepční nedoslýchavost diagnóza MeSH
- perforace rohovky patofyziologie chirurgie MeSH
- reoperace MeSH
- trabekulektomie MeSH
- transkripční faktory genetika MeSH
- vitrektomie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- přehledy MeSH
- MeSH
- dokumentace * metody využití MeSH
- edém rohovky diagnóza etiologie patologie MeSH
- fotografování * metody veterinární MeSH
- herpetické infekce diagnóza komplikace patologie MeSH
- keratitida diagnóza genetika klasifikace MeSH
- limbus corneae patologie MeSH
- melanom diagnóza komplikace patologie MeSH
- nemoci koček MeSH
- nemoci psů MeSH
- nemoci rohovky * diagnóza patofyziologie patologie MeSH
- poranění rohovky diagnóza patologie MeSH
- spinocelulární karcinom diagnóza komplikace patologie MeSH
- statistika jako téma MeSH
- suchá keratokonjunktivitida diagnóza genetika klasifikace MeSH
- úbytek endoteliálních buněk rohovky diagnóza komplikace patologie MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
PURPOSE: Intravitreal implantation of dexamethasone implant (Ozurdex®) is being widely used for the treatment of macular edema (ME) after branch or central retinal vein occlusion, diabetic ME, and persistent ME associated with uveitis or Irvine-Gass syndrome. We describe a complication: migration of the dexamethasone implant into the anterior chamber through basal iridectomy (Ando) in a pseudophakic patient with development of corneal edema and secondary high intraocular pressure. METHODS: This is a case report of migration of Ozurdex® through basal iridectomy in a pseudophakic patient with iris claw lens. CONCLUSIONS: Pseudophakic patients, with a history of vitrectomy, even those with a basal iridectomy (Ando), are at high risk for migration of the Ozurdex® into the anterior chamber and development of corneal edema.
- MeSH
- dexamethason aplikace a dávkování MeSH
- edém rohovky etiologie MeSH
- fakoemulzifikace MeSH
- glukokortikoidy aplikace a dávkování MeSH
- implantace nitrooční čočky MeSH
- injekce intravitreální MeSH
- iridektomie * MeSH
- léky implantované škodlivé účinky MeSH
- lidé MeSH
- makulární edém farmakoterapie MeSH
- oční hypertenze etiologie MeSH
- přední komora oční patologie MeSH
- pseudofakie etiologie MeSH
- selhání protézy etiologie MeSH
- senioři MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Včelí med predstavuje prírodný produkt s antibakteriálnymi a protizápalovými vlastnosťami, ktorý už našiel uplatnenie v liečbe popálenín a ťažko hojacich sa rán. Účinná a ekonomicky výhodná aplikácia medu pri liečení chronických rán podnietila jeho využívanie aj v iných medicínskych odboroch, napr. v oftalmológii. Hlavnou výhodou medu je jeho multifaktoriálne antibakteriálne pôsobenie a skutočnosť, že baktérie nie sú schopné získať rezistenciu na med. V predloženej práci sa venujeme súčasnému stavu využívania medu v liečbe vybraných ochorení oka ako sú očné infekcie, syndróm suchého oka, bulózna keratopatia a vekom podmienené očné ochorenia.
Honey is considered to be a natural product with antibacterial and anti-inflammatory properties. Its successful application in the treatment of chronic wounds and burns has promoted its further clinical use in other clinical departments, including ophthalmology. One of the major advantages of honey is its multi-factorial antibacterial action and the fact that there is no risk of developing bacterial resistance to it. In this work we discuss the current knowledge and new perspectives for honey therapy in treatment of eye diseases such as dry eye disease, age-related macular degeneration, cataracts and bullous keratopathy.
UVB radiation from sunlight induces an acute corneal inflammation, photokeratitis, accompanied by changes in corneal hydration. We employed a method of ultrasonic pachymetry for daily examination of central corneal thickness as an index of corneal hydration of the rabbit cornea repeatedly irradiated by UVB radiation (312 nm, daily dose of 0.25 J/cm(2) during three or four days) as influenced by UVB absorber (actinoquinol combined with hyaluronic acid) dropped on the ocular surface during irradiation. One day after the third irradiation procedure the animals were sacrificed and corneas examined immuno-histochemically for peroxynitrite formation, a marker of oxidative damage, the antioxidant aldehyde dehydrogenase 3A1 and endothelial nitric oxide synthase, an enzyme generated nitric oxide. Results show that UV absorber combined with hyaluronic acid protected the cornea against UVB-induced changes in corneal thickness and microscopical disturbances to the cornea (both seen after buffered saline application) until the fourth experimental day. These UVB doses are equivalent to a daily exposure of 2.5 hrs of the human cornea to solar UVB radiation for three consecutive days. It is suggested that actinoquinol/ hyaluronic acid drops might be helpful for the human eye in the defence against photooxidative and other oxidative processes.
- MeSH
- aldehyddehydrogenasa metabolismus MeSH
- aplikace oční MeSH
- časové faktory MeSH
- chinoliny aplikace a dávkování chemie MeSH
- cytoprotekce MeSH
- edém rohovky metabolismus prevence a kontrola ultrasonografie MeSH
- experimentální radiační poranění metabolismus prevence a kontrola ultrasonografie MeSH
- imunohistochemie MeSH
- keratitida metabolismus prevence a kontrola ultrasonografie MeSH
- králíci MeSH
- kyselina hyaluronová aplikace a dávkování chemie MeSH
- kyselina peroxydusitá metabolismus MeSH
- radioprotektivní látky aplikace a dávkování chemie MeSH
- rohovka metabolismus účinky léků ultrasonografie MeSH
- spektrofotometrie ultrafialová MeSH
- synthasa oxidu dusnatého, typ III metabolismus MeSH
- tělesná voda metabolismus MeSH
- ultrafialové záření MeSH
- zvířata MeSH
- Check Tag
- králíci MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
PURPOSE: Normal corneal hydration is necessary for the maintenance of corneal transparency. Damage of the corneal epithelium or endothelium by various external influences disturbs the mechanism by which the cornea maintains normal hydration and transparency. The cornea swells, and the corneal thickness increases, resulting in increased scatter and the development of corneal opacity. The transmission of light across the cornea is changed. The purpose of this study is to investigate spectrophotometrically the corneal light transmission under the influence of the various factors affecting the cornea. METHODS: We developed a spectrophotometric method to measure the light transmission across the cornea under the influence of various factors affecting the cornea, such as treatment with 0.9% NaCl, saline, or phosphate buffered saline (PBS), solutions employed as placebo eye drops (negative controls) in experimental studies, agents toxic to the cornea, such as diluted acids or alkalis. The method distinguishes between changes in corneal light transmission caused by altered corneal thickness (the level of hydration) and changes resulting from other corneal disturbances which in turn affect corneal light transmission. RESULTS: The results obtained show that the corneal light transmission is decreased following the application of toxic substances on the corneal surface. This decrease is highly dependent on the severity of the corneal injury evoked by individual noxes, and the resulting changes in corneal hydration and transparency. CONCLUSIONS: The influence of various influences applied to the cornea, manifested as changes in corneal light transmission, can be measured using our spectrophotometric method with a high degree of sensitivity.
- MeSH
- edém rohovky chemicky indukované MeSH
- hydroxid sodný toxicita MeSH
- králíci MeSH
- kyselina chlorovodíková toxicita MeSH
- rohovka účinky léků účinky záření MeSH
- spektrofotometrie MeSH
- světlo MeSH
- zvířata MeSH
- Check Tag
- králíci MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- MeSH
- diferenciální diagnóza MeSH
- edém rohovky etiologie chirurgie terapie MeSH
- keratoplastika perforující metody využití MeSH
- lidé MeSH
- poranění oka etiologie MeSH
- zákal rohovky etiologie chirurgie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- kazuistiky MeSH