PURPOSE: To compare corneal structures in buphthalmic eyes and healthy eyes in patients with unilateral congenital glaucoma using a corneal confocal microscope. METHODS: Ten patients with unilateral buphthalmos (mean ± SD age, 14.85 ± 5.12 years) were examined using corneal confocal microscopy. The cell density and cell area of endothelial cells and superficial and basal epithelial cells and the number of keratocytes were evaluated. RESULTS: There was no significant difference between the cell density of superficial epithelial cells in buphthalmic eyes relative to healthy eyes (P = 0.1944). The cell density of basal epithelial cells was significantly higher (P = 0.0234) and the cell area was significantly smaller (P = 0.0181) in buphthalmic eyes relative to healthy eyes. There was no difference between the number of keratocytes in buphthalmic eyes and healthy eyes in the anterior stroma (P = 0.273) or in the posterior stroma (P = 0.0799). The cell density of endothelial cells was significantly lower and the cell area was significantly larger in buphthalmic eyes relative to healthy eyes (P = 0.0009). CONCLUSIONS: We demonstrated a lower cell density of endothelial cells in buphthalmic eyes. We found no differences in keratocyte density between the buphthalmic eyes and healthy eyes. The cell density of basal epithelial cells was higher in buphthalmic eyes. These differences could be due to buphthalmos or due to the previous surgical and medical therapies. Monitoring of these changes could help to contribute to accurate assessments regarding future ocular surgical procedures.

• MeSH
• Descemetova membrána patologie   MeSH
• dítě MeSH
• glaukom s otevřeným úhlem vrozené   patologie   chirurgie   MeSH
• hydroftalmus patologie   chirurgie   MeSH
• konfokální mikroskopie metody   MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• počet buněk MeSH
• rohovkové keratocyty patologie   MeSH
• rohovkový epitel patologie   MeSH
• stroma rohovky patologie   MeSH
• Sturgeův-Weberův syndrom patologie   MeSH
• trabekulektomie MeSH
• úbytek endoteliálních buněk rohovky vrozené   patologie   chirurgie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

A 20-year-old patient, diagnosed with posterior polymorphous corneal dystrophy, developed corneal edema for which he underwent Descemet membrane endothelial keratoplasty with a stromal rim (DMEK-S) in the right eye. No intra- or postoperative complications were noted. At the last follow-up 2 years and 9 months after the procedure, the best corrected visual acuity was 1.0 and endothelial cell density declined from 3533 cells/mm 2 to 1012 cells/mm 2 . Despite the endothelial cell loss, DMEK-S appears to be a good alternative to other surgical techniques for the treatment of corneal endotheliopathies, and it may be of benefit to young patients.

• MeSH
• časové faktory MeSH
• Descemetova membrána patologie   chirurgie   MeSH
• Fuchsova endoteliální dystrofie patologie   chirurgie   MeSH
• lidé MeSH
• mladiství MeSH
• následné studie MeSH
• rohovkový endotel patologie   chirurgie   MeSH
• stroma rohovky patologie   chirurgie   MeSH
• zadní lamelární keratoplastika metody   MeSH
• zraková ostrost MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Wilsonova nemoc je vzácné autosomálně recesivní metabolické onemocnění vedoucí k akumulaci mědi ve tkáních, která postihuje zejména játra a mozek. Dysfunkce genu ATP7B vede k poruše vylučování mědi z hepatocytů do žlučových cest a k poruše inkorporace mědi do ceruloplazminu. Klinické projevy neuropsychiatrické formy Wilsonovy nemoci jsou velmi variabilní a onemocnění je třeba zvažovat u jakéhokoliv pacienta s extrapyramidovou, cerebelární či psychiatrickou symptomatikou vzniklou v rozmezí 3.–55. roku věku, zejména při anamnéze hepatální poruchy. Nejčastějšími příznaky jsou třes, dysartrie, deprese, dále parkinsonský syndrom, ataxie, dystonie a kognitivní poruchy. Diagnóza se stanovuje na základě přítomnosti charakteristických příznaků, zejména Kayser-Fleischerova prstence, typického nálezu na magnetické rezonanci mozku, sníženého ceruloplazminu, zvýšené hladiny volné sérové mědi, vylučování mědi močí a obsahu mědi v jaterní sušině. Velmi užitečné je i genetické vyšetření. Stanovit diagnózu a zahájit terapii je třeba co nejdříve, neboť hrozí riziko ireverzibilního poškození tkání mozku a jater. V terapii se uplatňuje dosažení negativní bilance mědi, základem je dieta, chelatační léčba penicilaminem a léčba zinkem snižující absorpci mědi.

Wilson disease is a rare autosomal recessive metabolic disorder leading to tissue copper accumulation and hepatic and brain damage. Dysfunctional ATP7B gene prevents copper excretion from hepatocytes and copper incorporation into ceruloplasmin. Clinical features of the neuropsychiatric form of Wilson disease are variable and it should be considered in case of any extrapyramidal, cerebellar or psychiatric disorder manifested between 3-55 years, namely in case of hepatal disorder history. Most common symptoms are tremor, dysarthria, depression, but also parkinsonism, ataxia, dystonia and cognitive decline. Diagnosis is based on the presence of characteristic symptoms: Kayser-Fleischer ring, typical brain magnetic resonance abnormalities, low blood ceruloplasmin, high urine 24-hours copper excretion, free serum copper and dry-weight liver copper content. Genetic examination is also very heplful. Diagnosis and treatment initiation should not be delayed, since there is a risk of irreversible liver and brain damage. Treatment is based on maintaining a negative copper balance. Chelation therapy with penicillamine and zinc therapy leading to decreased copper absorption is the mainstay of Wilson disease treatment.

• Klíčová slova
• hepatopatie, ATP7B, chletatační léčba,
• MeSH
• ceruloplasmin diagnostické užití   MeSH
• chelátory aplikace a dávkování   MeSH
• chelátová terapie metody   MeSH
• Descemetova membrána patologie   MeSH
• financování organizované MeSH
• genetická predispozice k nemoci genetika   prevence a kontrola   MeSH
• hepatolentikulární degenerace diagnóza   farmakoterapie   genetika   MeSH
• játra chemie   patologie   MeSH
• lidé MeSH
• měď analýza   krev   moč   MeSH
• mozek patologie   MeSH
• neurologické manifestace MeSH
• zinek terapeutické užití   MeSH
• Check Tag
• lidé MeSH

Posterior polymorphous corneal dystrophy (PPCD) is a rare, bilateral autosomal dominant disorder affecting primarily the corneal endothelium and descemet membrane (DM). The aim of this study was to establish the origin of abnormal endothelium in a patient with PPCD exhibiting cornea graft failure after keratoplasty surgery. A sex-mismatched graft obtained from a patient with PPCD who underwent repeat penetrating keratoplasty and the patient's original cornea were investigated. Combined fluorescent immunohistochemistry for cytokeratin (CK) 19 (a marker of aberrant PPCD endothelium) with fluorescence in situ hybridization (FISH) of the sex chromosomes were used in order to characterize the cells on the posterior graft surface. The pathological endothelium of the failed PPCD cornea revealed strong positivity for CK19 using fluorescent immunohistochemistry. In all the CK19-positive cells, both X and Y chromosomes were simultaneously detected using FISH. The results clearly showed the original cells of the patient (XY), within 3.5 years, almost totally overgrown the posterior corneal surface of the graft (XX). Moreover, an abnormal posterior collagenous layer populated by fibroblast-like cells was observed between DM and the endothelium in the failed graft, but its exact origin could not be established due to the low number of cells. Simultaneous detection of CK19 using fluorescent immunohistochemistry together with the detection of gonosomes using FISH was performed for the first time in the cornea and allowed us to prove that the recurrence of PPCD was caused by pathological abnormal proliferation and migration of recipient cells into donor graft.

• MeSH
• dědičné dystrofie rohovky genetika   patologie   MeSH
• Descemetova membrána patologie   MeSH
• hybridizace in situ fluorescenční MeSH
• keratiny metabolismus   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lidské chromozomy X MeSH
• lidský chromozom Y MeSH
• rohovkový endotel cytologie   metabolismus   patologie   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

• MeSH
• dědičné dystrofie rohovky diagnóza   genetika   patologie   MeSH
• Descemetova membrána patologie   MeSH
• keratoplastika perforující využití   MeSH
• lidé MeSH
• rohovkový endotel patologie   MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH

PURPOSE: Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder, affecting both the corneal endothelium and Descemet's membrane. In the Czech Republic, PPCD is one of the most prevalent corneal dystrophies. The purpose of this study was to determine the chromosomal locus of PPCD in two large Czech families, by using linkage analysis. METHODS: Linkage analysis was performed on 52 members of two Czech families with PPCD and polymorphic microsatellite markers and lod scores were calculated. The candidate gene VSX1 was also screened for mutations. RESULTS: Significant lod scores were obtained with microsatellite markers on chromosome 20. Linkage analysis delineated the Czech PPCD locus to a 2.7-cM locus on chromosome 20, region p11.2, between flanking markers D20S48 and D20S139, which excluded VSX1 as the disease-causing gene in both families. In addition, the exclusion of VSX1 was confirmed by sequence analysis. CONCLUSIONS: This study reports the localization of PPCD in patients of Czech origin to chromosome 20 at p11.2. Linkage data and sequence analysis exclude VSX1 as causative of PPCD in two Czech families. This refined locus for PPCD overlaps the congenital hereditary endothelial dystrophy (CHED1) disease interval, and it is possible that these corneal dystrophies are allelic.

• MeSH
• dědičné dystrofie rohovky epidemiologie   genetika   patologie   MeSH
• Descemetova membrána patologie   MeSH
• genetické markery MeSH
• homeodoménové proteiny genetika   MeSH
• lidé MeSH
• lidské chromozomy, pár 20 genetika   MeSH
• lod skóre MeSH
• lokus kvantitativního znaku MeSH
• mapování chromozomů * MeSH
• oční proteiny genetika   MeSH
• rodokmen MeSH
• rohovkový endotel patologie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH