This is a case report describing the uncommon finding of a cystic-like lesion and its management in the anterior chamber of a male patient after cataract surgery.
- Klíčová slova
- anterior chamber cyst, cataract surgery, free-floating cystic lesion,
- MeSH
- extrakce katarakty * škodlivé účinky MeSH
- katarakta * etiologie MeSH
- kyselina hyaluronová MeSH
- lidé MeSH
- přední komora oční MeSH
- sodík MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- kyselina hyaluronová MeSH
- sodík MeSH
Background: Congenital cataract is the most common cause of blindness in the world. Congenital cataracts are clinically and genetically heterogeneous and are mostly inherited in an autosomal dominant fashion. We identified the genetic cause of isolated autosomal dominant cataract in a four-generation British family and a Czech family.Methods: Whole exome sequencing (WES) was performed on one affected member in the British family and two affected members in the Czech family.Results: A novel missense variant c.388C > T; p.(R130C) was identified in the Lens integral membrane protein (LIM2) and found to co-segregate with disease in both families.Conclusions: Here we report the first autosomal dominant congenital cataract variant p.(R130C) in LIM2, causing a non-syndromic pulverulent and nuclear phenotype in European families.
- Klíčová slova
- Congenital cataracts, LIM2, WES, whole exome sequencing,
- MeSH
- fenotyp MeSH
- katarakta vrozené etiologie patologie MeSH
- lidé MeSH
- membránové proteiny genetika MeSH
- mutace * MeSH
- mutační analýza DNA MeSH
- oční proteiny genetika MeSH
- prognóza MeSH
- rodokmen MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- LIM2 protein, human MeSH Prohlížeč
- membránové proteiny MeSH
- oční proteiny MeSH
Diabetes has become one of the major diseases affecting human health. Diabetic cataracts (DCs) are considered a common complication in diabetic patients. The present study investigated differences in lens proteomic profiles between DCs and age-related cataracts (ACs) to determine the mechanism underlying the formation of DCs. Intrasurgical samples were collected from eight DC patients and 12 AC patients, and lens proteins were extracted by lysis and separated using two-dimensional gel electrophoresis (2-DE). The electrophoretic bands were analysed using PD-Quest software 8.0.1. Differentially expressed proteins were identified by matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF-MS) and peptide mass fingerprinting combined with protein database searching. In the 2-DE maps, the DC and AC lens proteins migrated in the region of pH 5-9 with a relative molecular weight (RMW) of 14-97 kDa, whereas the RMW of more abundant crystallin was 20-31 kDa. Approximately three protein spots with differential intensity were detected. Two crystallin proteins (αB and βB1) were identified using MALDI-TOF-MS. Proteomic analysis of the crystalline humour is feasible, and the proteins can be well separated; moreover, differentially expressed lens proteins can be analysed using 2-DE and mass spectrometry to compare DC and AC. The present results indicate that the αB and βB1 crystallins may accelerate the development of DCs. These techniques offer new avenues for mechanistic evaluation and future prevention or therapy of DCs.
- MeSH
- 2D gelová elektroforéza MeSH
- alfa-krystaliny - řetězec B biosyntéza genetika MeSH
- beta-krystaliny - řetězec B biosyntéza genetika MeSH
- diabetes mellitus 1. typu komplikace MeSH
- dospělí MeSH
- hmotnostní spektrometrie MeSH
- katarakta etiologie genetika metabolismus MeSH
- komplikace diabetu etiologie genetika metabolismus MeSH
- lidé středního věku MeSH
- lidé MeSH
- oční čočka chemie MeSH
- oční proteiny biosyntéza genetika MeSH
- proteom MeSH
- regulace genové exprese * MeSH
- stanovení celkové genové exprese MeSH
- stárnutí genetika metabolismus patologie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- srovnávací studie MeSH
- Názvy látek
- alfa-krystaliny - řetězec B MeSH
- beta-krystaliny - řetězec B MeSH
- oční proteiny MeSH
- proteom MeSH
BACKGROUND: Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c.863 + 389C > T in the CTDP1 gene. The syndrome has been described exclusively in patients of Gypsy ancestry. The prevalence of this disorder in the Gypsy population in the Czech Republic and Central Europe is not known and is probably underestimated and under-diagnosed. METHODS: We clinically diagnosed and assessed 10 CCFDN children living in the Czech Republic. All patients are children of different ages, all of Gypsy origin born in the Czech Republic. Molecular genetic testing for the founder CTDP1 gene mutation was performed. RESULTS: All patients are homozygous for the c.863 + 389C > T mutation in the CTDP1 gene. All patients presented a bilateral congenital cataract and microphthalmos and had early cataract surgery. Correct diagnosis was not made until the age of two. All patients had variably delayed motor milestones. Gait is characteristically paleocerebellar in all the patients. Mental retardation was variable and usually mild. CONCLUSIONS: Clinical diagnosis of CCFDN should be easy for an informed pediatrician or neurologist by the obligate signalling trias of congenital bilateral cataract, developmental delay and later demyelinating neuropathy. Our data indicate a probably high prevalence of CCFDN in the Czech Gypsy ethnic subpopulation.
- MeSH
- dítě MeSH
- katarakta vrozené diagnóza etiologie MeSH
- kojenec MeSH
- kraniofaciální abnormality diagnóza etiologie MeSH
- lidé MeSH
- mladiství MeSH
- nemoci nervového systému diagnóza etiologie MeSH
- předškolní dítě MeSH
- Romové MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
There is a proved relationship between diabetes mellitus and the cataract formation. The incidence of this is usually related to the duration of diabetes. In this manuscript we report a 15 years old female presented to the emergency room with a 4 hour history of rapid bilateral diminished vision, initially diagnosed with idiopathic cataracts, but after more laboratory evaluations revealed new-onset type 1 diabetes mellitus without ketosis.
- MeSH
- diabetes mellitus 1. typu krev komplikace MeSH
- diferenciální diagnóza MeSH
- katarakta diagnóza etiologie MeSH
- krevní glukóza metabolismus MeSH
- lidé MeSH
- mladiství MeSH
- následné studie MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- krevní glukóza MeSH
Lightning injuries are dangerous and often deadly trauma. We present a case of 41 year old woman who suffered an indirect lightning injury, dropping into unconsciousness followed by amnesia. Initial irritation of her left eyeball was followed by subtle changes in retinal pigment epithelium without any drop in visual acuity for a period of three months. Subsequently there began a slow deterioration of visual acuity and progression of cataract causing BCVA to drop to 5/50. Patient underwent uncomplicated cataract phacoemulsification with IOL implantation which resulted in restoring BCVA to 5/5 postoperatively. Such cases are scarce in literature.
- MeSH
- dospělí MeSH
- katarakta etiologie patologie MeSH
- lidé MeSH
- poranění bleskem komplikace patologie MeSH
- poranění oka etiologie patologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
- kazuistiky MeSH
AIM: The aim of the prospective study was to evaluate the long-term effect of the lens epithelial cells (LEC) removal by means of the lens capsule mechanical polishing on the development of the anterior capsule opacification (ACO) and posterior capsule opacification (PCO). MATERIALS AND METHODS: The study group consisted of 28 patients, average age 57 years (27-87 years), who underwent the cataract surgery of both eyes. Out of the 28 patients, the follow up examination after two or more years attended 23 of them. For the irrigation and aspiration after the phacoemulsification, the bimanual (newly also called biaxial) irrigationlaspiration from two service, 1 mm wide, opposite (at the 3 and 9 o'clock positions) incisions was used. In each patient, the lens capsule of one eye was mechanically polished in the maximal mydriasis (at least 5 minutes) with a specially constructed 5 openings aspiration cannula designated especially for the LEC aspiration in the equator area. The anterior capsule was cleaned by means of the standard one opening aspiration cannula. In the other eye of the same patient, the LEC of the anterior capsule were left intact. There was implanted the same type of the intraocular lens in both eyes. The examination after more than two years after the surgery consisted of biomicroscopic examination, taking the photograph of the intraocular lens and the lens capsule in retro illumination, and examining of the anterior segment by means of the Scheimpflug camera (Pentacam) with measuring the density of the anterior and posterior lens capsule. The Wilcoxon pair test was used for the statistical evaluation. RESULTS: Using the Pentacam system objective densitometry, there was found statistically significant lower density of the anterior lens capsule in eyes with peroperative mechanical polishing of the lens capsule including the equator and the anterior capsule. Among the values of the density of the posterior capsule, there were found no statistically significant differences, although in 43% of patients, in the eye with the polished capsule, there were visually less dense opacities of the posterior capsule. CONCLUSIONS: According to the obtained results it may be stated that the mechanical polishing of the lens capsule, including the equator and the anterior capsule, causes significantly lower degree of opacities of the anterior capsule (ACO), but has not statistically significant influence to the development of the PCO.
- MeSH
- dospělí MeSH
- epitelové buňky patologie MeSH
- extrakce katarakty * MeSH
- implantace nitrooční čočky MeSH
- katarakta etiologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- pouzdro oční čočky patologie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
PURPOSE: To prospectively compare the degree of posterior capsule opacification (PCO) after AquaLase and NeoSoniX phacoemulsification methods during the 3-year follow-up period. DESIGN: Prospective, randomized clinical trial. METHODS: Setting at the Department of Ophthalmology, University Hospital in Hradec Králové. Patients with bilateral cataract were included. AquaLase was used in the right eye and NeoSoniX in the left eye of each patient. The AcrySof SA60AT intraocular lens (Alcon Laboratories, Fort Worth, Texas, USA) was implanted in all eyes. The Evaluation of Posterior Capsule Opacification (EPCO) 2000 software (Developed by Tetz MR and associates, Berlin, Germany) and the Open-Access Systematic Capsule Assessment (OSCA) system (Devised by Aslam TM, Edinburgh, United Kingdom) were used for PCO assessment 1, 2, and 3 years after cataract surgery. RESULTS: Fifty patients were analyzed 1 year, 47 patients 2 years, and 46 patients 3 years after cataract surgery. Mean EPCO 2000 values were for the AquaLase group 0.324 +/- 0.305 and for the NeoSoniX group 0.298 +/- 0.341 (P = .53) 1 year after surgery, for the AquaLase group 0.429 +/- 0.322 and for the NeoSoniX group 0.478 +/- 0.337 (P = .30) 2 years after surgery, and for the AquaLase group 0.582 +/- 0.506 and for the NeoSoniX group 0.594 +/- 0.515 (P = .87) 3 years after surgery. The OSCA results were for the AquaLase group 0.7097 +/- 0.3778 and for the NeoSoniX group 0.8584 +/- 0.4323 (P = .046) 1 year after surgery, for the AquaLase group 0.7515 +/- 0.4555 and for the NeoSoniX group 0.8103 +/- 0.4498 (P = .44) 2 years after surgery, and for the AquaLase group 0.9667 +/- 0.736 and for the NeoSoniX group 0.9540 +/- 0.5250 (P = .91) 3 years after surgery. Neodymium-yttrium-aluminun-garnet capsulotomy rate for AquaLase vs NeoSoniX was 0:1 eyes 1 year, 1:3 eyes 2 years, and 1:4 eyes 3 years after surgery. No significant difference between those 2 groups was established, except the OSCA outcomes 1 year postoperatively. CONCLUSION: There was only minimal PCO difference between these 2 approaches, AquaLase and NeoSoniX. Neither AquaLase nor NeoSoniX technique was able to prevent a natural progression of PCO.
- MeSH
- fakoemulzifikace přístrojové vybavení metody MeSH
- implantace nitrooční čočky MeSH
- katarakta etiologie patofyziologie terapie MeSH
- laserová terapie MeSH
- lasery pevnolátkové MeSH
- lidé MeSH
- následné studie MeSH
- pooperační komplikace * MeSH
- pouzdro oční čočky patologie chirurgie MeSH
- progrese nemoci MeSH
- prospektivní studie MeSH
- zraková ostrost MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- randomizované kontrolované studie MeSH
- srovnávací studie MeSH
PURPOSE: To evaluate and compare posterior capsule opacification (PCO) incidence and the best-corrected visual acuity (BCVA) in patients who underwent the implantation of intraocular lens (IOL) made of polymethylmethacrylate (PMMA), or hydrophobic acrylic material, or silicone material. All patients were examined 7 years after the surgery at the Department of Ophthalmology, University Hospital, Hradec Králové, Czech Republic, E.U. METHODS: In this 60 study, sixty eyes (44 patients) were evaluated; 20 eyes with IOLs made of PMMA with round edge, 20 eyes with IOLs made of hydrophobic acrylic material with square edge and 20 eyes with IOLs made of silicone material with round edge. They were examined 7 years after surgery. The eyes treated with Nd:YAG laser capsulotomy were excluded from the EPCO 2000 evaluation. The EPCO 2000 software (Evaluation of Posterior Capsule Opacification) was used for PCO assessment. The density of the opacification was graded clinically from 1 to 4. The BCVA, the PCO index for every PCO grade and total PCO index were compared. RESULTS: Mean of total PCO index for PMMA IOLs was 0.451 +/- 0.619; for hydrophobic acrylic IOLs 0.361 +/- 0.397; and for silicone IOLs 0.552 +/- 0.372. During the examination, we have found the BCVA mean to be for PMMA IOLs 0.79 +/- 0.26, for hydrophobic acrylic IOLs 0.87 +/- 0.19, and silicone IOLs 0.78 +/- 0.29 respectively. Twenty eyes of twenty patients required Nd:YAG laser capsulotomy: twelve eyes with PMMA IOLs, two eyes with hydrophobic acrylic IOLs, and six eyes with silicone IOLs. CONCLUSIONS: In this study, the difference in PCO incidence and BCVA among PMMA, hydrophobic acrylic, and silicone IOLs were not statistically significant. The highest incidence of the Nd:YAG laser capsulotomy was in the group of PMMA IOLs, then in silicone IOLs, and the lowest incidence was in the group of hydrophobic acrylic IOLs.
- MeSH
- akryláty MeSH
- extrakce katarakty * MeSH
- implantace nitrooční čočky * MeSH
- katarakta etiologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nitrooční čočky * MeSH
- polymethylmethakrylát MeSH
- recidiva MeSH
- senioři MeSH
- silikony MeSH
- zraková ostrost MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
- Názvy látek
- akryláty MeSH
- polymethylmethakrylát MeSH
- silikony MeSH
PURPOSE: To compare the extent of posterior capsule opacification (PCO) after AquaLase and NeoSoniX phacoemulsification methods using two types of software for PCO quantification. DESIGN: Prospective, randomized clinical trial. METHODS: At the Department of Ophthalmology, University Hospital in Hradec Králové, 50 patients (100 eyes) were analyzed one year after surgery. AquaLase was used in the right eye and NeoSoniX in the left eye of each patient. One year after surgery, digital retroillumination photographs of anterior segments were obtained. The Evaluation of Posterior Capsule Opacification (EPCO) 2000 software (Berlin, Germany) and the Open-Access Systematic Capsule Assessment (OSCA) system (Edinburgh, United Kingdom) were used for PCO assessment. Best-corrected Snellen visual acuity (BCVA) was evaluated before and after surgery. Statistical analysis was performed using parametric tests. RESULTS: The EPCO 2000 results were as follows: mean value for right eyes, 0.324+/-0.305; mean value for left eyes, 0.298+/-0.341; no difference was proved (P=.532). The OSCA results were as follows: for right eyes, 0.7097+/-0.3777; for left eyes, 0.8584+/-0.4323; significant difference (P=.046), worse for left eyes. No correlation between EPCO 2000 and OSCA results was established (P>.001; correlation coefficient, 0.347). BCVA for the right eyes was 0.837+/-0.262 and for the left eyes was 0.849+/-0.224. Neodymium:yytrium-aluminum-garnet capsulotomy was performed in one eye in the NeoSoniX group, and in no eyes in the AquaLase group. CONCLUSIONS: There was no significant difference in PCO measured by EPCO 2000, however, PCO after AquaLase as assessed by EPCO 2000 was slightly denser. The OSCA system gave significantly higher scores in the NeoSoniX group. No correlation between EPCO 2000 and OSCA outcomes was proved.
- MeSH
- dospělí MeSH
- fakoemulzifikace metody MeSH
- implantace nitrooční čočky MeSH
- katarakta etiologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- pooperační komplikace * MeSH
- pouzdro oční čočky patologie MeSH
- přední segment oční patologie MeSH
- prospektivní studie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- software MeSH
- zraková ostrost MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- randomizované kontrolované studie MeSH
- srovnávací studie MeSH