bromochloroacetic-acid and Iris-Diseases

A 14-year-old boy presented with a 6-month history of small white masses in his right eye. Examination revealed a white floating fluffy lesion and 2 vegetative hornlike white lesions originating at the periphery of the iris. On ultrasound biomicroscopy, a normal echogenic mass was detected on the inferior iris root and angle, with no posterior chamber or cilliary body involvement. Histopathology following an excisional biopsy revealed keratinous material. There was no recurrence during 10 months of follow-up.

Topics: Adolescent; Anterior Chamber; Cysts; Gonioscopy; Humans; Iris Diseases; Keratins; Male; Microscopy, Acoustic

Topics: Adolescent; Biomarkers; Biopsy; Choristoma; Diagnosis, Differential; Humans; Immunoenzyme Techniques; Iris Diseases; Keratin-7; Keratins; Male; Nuclear Proteins; Thyroglobulin; Thyroid Gland; Thyroid Nuclear Factor 1; Transcription Factors

To evaluate the clinical history, histopathology, and genetics of posterior polymorphous corneal dystrophy (PPMD) in a woman with a prominent retrocorneal membrane.. Observational case report and genetic analysis of her family, UM:139.. Records were reviewed from a case and associated family members. The diagnosis of PPMD was based on clinical examination, immunohistochemical staining, electron microscopy, and screening of genetic markers from regions previously reported to be associated with PPMD.. Over 17 years, the proband with PPMD had 25 ocular procedures performed for glaucoma, cataract, cornea, retina, and postoperative problems. A prominent retrocorneal membrane grew onto the crystalline lens and intraocular lens (IOL). Histopathology revealed stratified epithelial-like cells on iris from an iridectomy and stratified corneal endothelium on a corneal button. Electron microscopy on the cornea revealed microvilli, tonofilaments, and desmosomes consistent with endothelial transformation, which was confirmed by positive anticytokeratin (CK) AE1/AE3 and CAM 5.2 immunoreactivity. Negative immunoreactivity in epithelium and positive in endothelium with anti-CK 7 supported the diagnosis of PPMD rather than epithelial downgrowth. Multiple relatives were affected with PPMD with apparent autosomal dominant inheritance, but surprisingly, the PPMD, congenital hereditary endothelial dystrophy 1 (CHED1) and CHED2 loci on chromosome 20 and the collagen, type VIII, alpha-2 (COL8A2) gene were excluded by linkage and haplotype analyses.. We are unaware of previous PPMD reports describing the unusual feature of a retrocorneal membrane extending onto the crystalline lens and IOL. In addition, this family suggests another PPMD locus.

Topics: Biomarkers; Chromosome Mapping; Chromosomes, Human, Pair 20; Collagen Type VIII; Cornea; Corneal Dystrophies, Hereditary; DNA; Epithelial Cells; Female; Humans; Iridectomy; Iris Diseases; Keratins; Lens, Crystalline; Lenses, Intraocular; Membranes; Microsatellite Repeats; Middle Aged; Pedigree; Polymerase Chain Reaction

The purpose of this study was to identify the in vivo microstructural characteristics of an animal model of 'epithelialization of the endothelium' that are similar in appearance to the in vivo confocal microscopical appearance of corneal endothelium previously thought to be diagnostic of irido-corneal endothelial syndrome, and correlate these observations with ex vivo in situ confocal microscopical analysis. A rat model (n = 8 eyes)of transient 'epithelialization of the endothelium' resulting from superficial corneal trauma, was developed and analysed using in vivo confocal microscopy. One animal was killed at 48 hand the cornea was immuno-labelled and analysed, using ex vivo in situ confocal digital image reconstruction. Reversible 'epithelialization of the endothelium' was observed by in vivo confocal microscopy 48 h after superficial corneal trauma in all eight eyes. Ex vivo in situ analysis failed to demonstrate immunohistological characteristics of epithelialization. In vivo confocal microscopy is based on optical principles, and as a result various structural alterations may present with apparently identical characteristics that should be interpreted cautiously, on the basis of the presented clinicopathological observations.

Topics: Animals; Antibodies, Monoclonal; Cell Movement; Corneal Diseases; Endothelium, Corneal; Epithelium, Corneal; Female; Iris Diseases; Keratins; Microscopy, Confocal; Models, Animal; Rats; Rats, Wistar; Syndrome

To test the hypothesis that the aberrant, cytokeratin-expressing cells that replace endothelium in the iridocorneal endothelial (ICE) syndrome are of endothelial origin.. Corneas from four patients with Chandler's syndrome and three with essential iris atrophy were examined by two-color immunofluorescence for simultaneous expression of cytokeratins and two markers of endothelial lineage: vimentin and the antigen recognized by the antiendothelial monoclonal antibody 2B4.14.1.. In six corneas, unequivocal endothelial staining for cytokeratins was present; in each of these, cells coexpressing cytokeratins and the two endothelial markers were clearly identifiable. In the remaining cornea, weak cytokeratin staining that colocalized with vimentin was present.. These results lend strong support to the hypothesis that the "epithelial-like" endothelial cells in ICE syndrome are cells of endothelial lineage rather than heterotopia of epithelial cells; these cells probably arise via a metaplastic transformation of preexisting endothelium.

Topics: Adult; Aged; Antibodies, Monoclonal; Corneal Diseases; Endothelium, Corneal; Fluorescent Antibody Technique, Indirect; Humans; Iris Diseases; Keratins; Metaplasia; Middle Aged; Syndrome; Vimentin

A corneal specimen obtained by surgery in a 55-year-old woman with Chandler's syndrome was studied by light and transmission electron microscopy as well as by immunocytochemistry. The pathologic features were abnormalities of the endothelially derived cells lining the posterior corneal surface with a fibrous material consisting of collagen fibrils, filaments and banded material similar to that found in the anterior part of Descemet's membrane observed between the endothelial cell layer and Descemet's membrane. The multilayered endothelial cell layer in our case was found to be strongly positive for cytokeratins K7 and KL1 and vimentin and negative for factor-VIII-related antigen, neuron-specific enolase, nerve tissue S-100 protein, epithelial membrane antigen, CD 68, actin and desmin. This immunohistochemical reaction pattern argues in favor of an epithelial origin for cells lining the endothelial cell layer in Chandler's syndrome.

Topics: Corneal Diseases; Endothelium, Corneal; Female; Humans; Immunoenzyme Techniques; Iris Diseases; Keratins; Keratoplasty, Penetrating; Middle Aged; Syndrome; Vimentin

The immunocytologic characteristics of two formalin-fixed, paraffin-embedded corneas from patients with the iridocorneal endothelial (ICE) syndrome and unaffected control corneas were studied. Binding of polyclonal antisera to Factor VIII, S-100 protein, involucrin, neuron specific enolase (NSE), and the lectins peanut agglutinin and Ulex europaeus agglutinin-1 was performed using the standard peroxidase-anti-peroxidase method. We detected reactive patterns of monoclonal antibodies to cytokeratins (34BE12 is a 56-58 kD mouse IgG reactive to stratified epithelia; Pkk1 is a 44-54 kD mouse IgG reactive to simple epithelia; and KL1 is a 55-57 kD mouse IgG reactive to epidermis and simple epithelia) using the standard avidin-biotin complex method. Staining properties were similar for the polyclonal antisera, lectins, NSE, and chromogranin in corneas with ICE syndrome and in the controls. However, the cytokeratins 34BE12, Pkk1, and KL1 were detected in the endothelium of the corneas with the ICE syndrome but not in the controls. These findings suggest that various cytokeratins are expressed in the corneal endothelium in the ICE syndrome that are not expressed in unaffected corneal endothelium.

Topics: Antibodies, Monoclonal; Corneal Diseases; Endothelium, Corneal; Factor VIII; Humans; Immunoenzyme Techniques; Iris Diseases; Keratins; Microscopy, Electron, Scanning; Protein Precursors; S100 Proteins; Syndrome

A 29-year-old woman had unilateral essential iris atrophy, corneal endothelial changes, and absolute glaucoma. The enucleated eye was examined by routine light microscopy. Separate portions of unfixed fresh frozen cornea were sectioned and reacted with monoclonal antibodies against keratins, vimentin, and inflammatory cell markers. Stains for filamentous actin (f-actin) were performed using the 7-nitro-benz-2-oxa-1,3-diazolylphallacidin (NBD phallacidin) probe. In addition, portions of cornea and iris were examined by scanning and transmission electron microscopy. Immunocytochemical stains with anti-keratin antibodies showed reactivity only in the corneal epithelium of the patient and normal control. Immunoreactivity with anti-vimentin antibodies was observed in corneal endothelium and keratocytes of the patient and control, but was negative in the epithelium. Staining for f-actin appeared more pronounced in the corneal endothelium of the patient. Scanning electron microscopy of the corneal endothelium showed irregularity in cell size and shape and filopodial processes characteristic of migrating cells. Transmission electron microscopy disclosed abnormalities of Descemet's membrane and endothelium with a posterior collagenous layer. The corneal endothelium displayed normal junctional complexes without desmosomal junctions or increased microvillus projections. Increased 10-nm cytoplasmic filaments were noted consistent with the expression of vimentin. Occasional chronic inflammatory cells perturbed the corneal endothelium and were detected within the endothelial layer. Alterations in the endothelium and Descemet's membrane suggest the acquired nature of this disease.

Topics: Actins; Adult; Atrophy; Corneal Diseases; Endothelium, Corneal; Female; Glaucoma; Humans; Immunohistochemistry; Iris; Iris Diseases; Keratins; Microscopy, Electron; Microscopy, Electron, Scanning; Syndrome

Two women with the iridocorneal endothelial syndrome had unilateral corneal edema, iris stromal atrophy, and glaucoma. Each underwent penetrating keratoplasty. Transmission electron microscopy of the corneal buttons disclosed a thin, normally structured Descemet's membrane bounded posteriorly by a posterior collagenous layer that contained banded and fibrillar tissue, indicating that the disorder was acquired after childhood. Scanning electron microscopy showed some degenerated corneal endothelial cells with filopodial cytoplasmic projections, suggesting endothelial migration. Transmission electron microscopy of the endothelium showed no signs of epithelial-like alteration, such as stratification, desmosomal junctions, or increased cytoplasmic fibrils. Immunohistochemical staining of fresh-frozen sections with monoclonal antibodies to keratin showed normal staining of the epithelium and no staining of the endothelium. Occasional lymphocytes were seen within the endothelium in one case but were also observed in one case of an inherited corneal disease, posterior polymorphous dystrophy, suggesting that they might be normal "passenger" cells migrating in the endothelial monolayer.

Topics: Adult; Antibodies, Monoclonal; Cornea; Corneal Diseases; Descemet Membrane; Endothelium; Female; Histocytochemistry; Humans; Immunochemistry; Iris Diseases; Keratins; Microscopy, Electron; Syndrome; Visual Acuity