[Primary intrastromal iris cysts]. / Primäre stromale Iriszysten.

BACKGROUND: Cysts of the iris are uncommon and most of them occur secondarily after surgery or penetrating injury. The minority of the iris cysts is primary without a reasonable cause. They are classified into the more common pigment epithelial cysts and the rare cysts of iris stroma ("intrastromal cysts"). These intrastromal iris cysts are generally diagnosed in children and often cause symptoms such as a decrease of visual acuity because of ingrowth into the optical axis. A diagnosis of stromal cysts in adults is very rare. Most of these patients remain without any symptoms and do not need treatment. The cellular origin is so far unknown. Mesoderm, neuroectoderm and surface ectoderm have been discussed in this context. CASE REPORTS: Two patients with primary intrastromal iris cysts are presented, a 5-year-old boy and a 65-year-old woman. In both cases, the cyst affected the optical axis and was removed by sector iridectomy. In histological and electron-microscopic examinations both cysts presented a typical epithelial structure. Immunohistochemical examination revealed positivity for epithelial markers and negativity for mesenchymal and neuroectodermal markers. CONCLUSION: Primary intrastromal iris cysts can occur in advanced age and may cause symptoms due to progressive growth. The cellular origin of primary intrastromal iris cysts is controversially discussed in the literature. On electron microscopy and immunohistochemistry, the iris cysts presented here showed characteristic features of surface ectodermal origin.

[N-acetylcysteine improves lysosomal function and enhances the degradation of photoreceptor outer segments in cultured RPE cells]. / N-Acetylcystein verbessert die lysosomale Funktion und beschleunigt den Abbau von Photorezeptoraussensegmenten in der RPE-Zellkultur.

BACKGROUND: In the retinal pigment epithelium (RPE) lipofuscin granules accumulate with age in the lysosomal compartment mainly as a byproduct of constant phagocytosis of oxidized membranous discs shed from photoreceptor outer segments. Antioxidative defiency and prooxidative conditions in the RPE play a key role in the pathogenesis of RPE dysfunction and macular degenerations such as ARMD. In human RPE cell cultures we investigated the antioxidative effect of N-acetylcysteine (ACC) on lysosomal functions. METHODS: Primary human RPE cell cultures were loaded with regular or oxidized human and porcine rod outer segments (ROS) and treated with ACC. Lysosomal volume and accumulation of autofluorescent material was measured using [14C] methylamine accumulation and FACS analysis. The regulation pattern of lysosomal proteins were investigated by proteome analysis. RESULTS: ACC reduced total lysosomal volume in control, ROS and oxidized ROS fed RPE cells. After ROS incubation increased accumulation of autofluorescent material was measured. ACC treatment decreased intracellular accumulation. Furthermore, incubation with ACC leads to a general down regulation of lysosomal proteins. CONCLUSION: In our cell culture model of ROS fed RPE cells simulating aged RPE ACC improves lysosomal volume and metabolism. Therefore ACC may represent a new prophylactic and causal treatment option for AMD.

[Subcutaneous leiomyosarcoma metastatic to the eyelid]. / Lidmetastase eines subkutanen Leiomyosarkoms.

BACKGROUND: Metastatic eyelid lesions are rare. Most metastatic lesions to the eyelid are carcinomas. Leiomyosarcomas are soft tissue sarcomas arising most commonly in the uterus and gastrointestinal tract, whereas dermal leiomyosarcomas are less frequent. Dermal leiomyosarcomas metastatic to the eyelid have not been reported so far. CASE REPORT: A 28-year-old female patient presented with a rapidly growing tumor of her right lower eyelid. A subcutaneous leiomyosarcoma of the neck had been excised 21 months before with subsequent radiotherapy. Seven months later metastases to the lung, liver, and left upper arm were detected. The patient received chemotherapy. The eyelid tumor was completely excised. Histologically the lesion consisted of spindle cells arranged in fascicles with perinuclear vacuoles and myofilaments. There was a strong immunoreactivity for smooth muscle actin, and negative staining for cytokeratin and S100. CONCLUSION: Cutaneous and subcutaneous leiomyosarcomas occur at almost any age, but are most common between the 5th and 7th decades. They are more common in men and usually occur at the extremities. The prognosis of cutaneous/subcutaneous leiomyosarcoma correlates with the depth of the tumor. To our knowledge this is the first presentation of a subcutaneous leiomyosarcoma metastatic to the eyelid. Presumably, parenchymatous metastases of this tumor occur before dermal metastases arise.

[Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy]. / Molekulargenetische und histopathologische Untersuchungen zur Genotyp-Phänotyp-Analyse bei Patienten mit TGFBI-gekoppelten Hornhautdystrophien.

PURPOSE: Different missense mutations in the TGFBI gene cause granular (Groenouw CDGG1, Avellino CDA, Reis-Bücklers CDB1) and lattice (Type I; Biber-Haab-Dimmer; CDL1) corneal dystrophies and, in some reports, corneal dystrophy Thiel-Behnke (CDB2). We report on the mutation spectrum and the genotype-phenotype correlations on the basis of clinical and histopathological examinations of 13 German families with TGFBI-linked corneal dystrophies. METHODS: In 31 patients with different corneal dystrophies, DNA was extracted from leukocytes of the peripheral blood and mutation analysis was performed by direct sequencing of the TGFBI gene. Clinical and histopathological findings were compared with the molecular genetic findings for genotype-phenotype correlations. RESULTS: In 6 patients (2 families/one single person) with clinical and histopathological CDL1 we found a Missense mutation Arg124Cys and in 7 patients (3 families/one single person) with clinical and histopathological CDA we found a Missense mutation Arg124His in the exon 4 of the TGFBI gene. In 12 patients (4 families/2 single persons) with clinical and histopathological CDGG1 we found a Missense mutation Arg555Trypt in the codon 12 of the TGFBI gene. In all five patients (1 family/4 single persons) with clinical and histopathological CDB2 we could not find any mutation in the TGFBI gene. In one patient with exceptional clinical and histopathological findings we found a Missense mutation Ala546Asp, which was reported before only twice in connection with polymorphous corneal amyloidosis. CONCLUSIONS: In comparison of our clinical and histopathological findings and the molecular genetic results we found a strong genotype-phenotype correlation in patients with TGFBI-linked corneal dystrophies. Rare mutations can lead to exceptional clinical and histopathological findings which cannot be classified into the different groups of corneal dystrophies. In our patients with CDB2 we could not find any molecular genetic correlation to the TGFBI gene.

[Neurodermatitis. A risk factor for the development of squamous cell carcinoma]. / Neurodermitis. Ein Risikofaktor für die Entstehung konjunktivaler Plattenepithelkarzinome.

Squamous cell conjunctival carcinomas (SCCC) are rare. We report on a 34-year-old patient with neurodermatitis and chronic conjunctivitis who presented with a therapy-resistant corneal ulcer induced by mechanical irritation diagnosed as SCCC. Chronic blepharoconjunctivitis seems to sustain the development of SCCC in patients with neurodermatitis because of their insufficient immune response.

[Measurement method for the determination of rotation and decentration of intraocular lenses]. / Messmethode zur Bestimmung der Rotation und der Dezentrierung von Intraokularlinsen.

PURPOSE: In the past 50 years the IOL has been improved. Nowadays it is possible to exactly calculate the necessary IOL power and correct toric refractive errors. In this study we developed methods for measuring rotation and decentration using the example of a hydrophilic acrylic IOL. METHODS: Following cataract surgery, the first retroilluminated photograph was taken. The position of the IOL was determined with the image analysis program Adobe Photoshop. RESULTS: Measurement of a rotational movement or of a decentration of an IOL can be done accurately and rapidly. Evaluation of the stability of rotation of the hydrophilic acrylic IOL measured here showed an average rotation of the IOL of 5.3+/-1.4 degrees after 6 months compared to the position directly after implantation. CONCLUSION: The measurement methods presented here are easy to use and provide reliable results. Examiners must have basic knowledge of the computer programs used. Also, these methods depend on good quality of the retroilluminated photographs.

[Immunohistochemical detection of altered low density lipoprotein (ox-LDL) in the vessel walls of patients with giant cell arteritis]. / Immunhistochemischer Nachweis veränderter Low-density-Lipoproteine (ox-LDL) in der Gefässwand bei Patienten mit Arteriitis temporalis.

BACKGROUND AND PURPOSE: Recent data indicate that lipid peroxidation is implicated in the pathogenesis of giant cell arteritis with a close anatomic relationship between reactive oxygen species and oxidatively injured vascular tissue. PATIENTS AND METHODS: Immunohistochemistry utilizing anti-ox-LDL was performed on paraffin sections of isolated temporal arteries obtained from patients (n=23) suspected of having temporal arteritis. Enrichment as well as staining intensity of ox-LDL in vascular tissue was analysed by digital image planimetry. RESULTS: Temporal arteries with biopsy proven temporal arteritis (n=11) presented with significantly higher enrichment of ox-LDL in the intima (16.9+/-4.2% vs. 11.25+/-2.3%; p<0.01) and mean (9.6+/-2.4% vs. 6.75+/-1.8%; p<0.01) as compared to healthy controls. Comparable results for the staining intensity were found in the intimal (2.8+/-0.5 eU vs. 1.7+/-0.4 eU; p<0.01) and medial layer (1.55+/-0.5 eU vs. 1.04+/-0.6 eU; p<0.01) of diseased patients compared to controls. CONCLUSIONS: Accumulation of ox-LDL in the intimal layer, especially at the intima-media-border, was closely related to disruption of the elastica interna and adjacent vascular tissue, presumably contributing to the underlying process of intimal hyperplasia through unimpeded migration of smooth muscle and accumulation inflammatory cells.

[Progressive peripunctal nevus in an adult]. / Progredienter Nävuszellnävus des Punctum lacrimale im Erwachsenenalter.

Nevi arise from migration of melanocytes into the epithelium. Over the years they experience a typical maturation, with the possibility of an increased thickness due to accompanying inflammation or fibrosis but actual growth of nevi is rare in adults. A 70-year-old patient presented with a growing tumour around the punctum lacrimale. The histological examination revealed a conjunctival nevus without any transformation. Peripunctal nevi are rare. The localisation of a nevus in the area of the punctum lacrimale was first published in 1931 and only 10 other patients with such a nevus have been reported. If at all, an enlargement of a peripunctal nevus has been described in younger patients. The patient presented here showed significant growth of the nevus at an atypically high age without any histological signs of malignancy or proliferation. The reason for this uncommon nevus enlargement remains unclear.

Intraocular pressure more reduced during anesthesia with propofol than with sevoflurane: both combined with remifentanil.

BACKGROUND: Short-acting anesthetic agents are suitable and commonly used in ocular surgery. Propofol and remifentanil are known to reduce intraocular pressure (IOP), but no information is available regarding the effects of sevoflurane combined with remifentanil on IOP. METHODS: Therefore, a prospective, randomized study was conducted to compare the effects on IOP of two different anesthetic techniques: one based on a total intravenous anesthesia with propofol (Group P, bolus 1.5-2.0 mg/kg, maintenance 3.0-7.0 mg/kg/h); and the other based on sevoflurane (Group S, inhalational induction, end-tidal concentration 0.7-1.2 vol.%). An infusion of remifentanil (10 microg/kg/h) was used with both techniques. In ASA I-III patients with normal IOP undergoing elective cataract surgery, using an applanation tonometer, IOP was measured contralateral to the operated eye at nine predefined time points before, during and after anesthesia. RESULTS: The two groups (n=20 each) were comparable with regard to demographic data and hemodynamic variables. Baseline IOP was 14.2+/-2.8 mmHg (Group P) and 14.1+/-2.4 mmHg (Group S; NS). During and following the induction of anesthesia, IOP was reduced in both groups. Intraocular pressure was significantly lower in Group P (6.0+/-3.2 mmHg) than in Group S (8.9+/-3.4 mmHg) during the induction of anesthesia. CONCLUSION: In patients undergoing cataract surgery under general anesthesia with tracheal intubation, anesthetic regimens with propofol as well as with sevoflurane, both combined with remifentanil, decrease IOP significantly. The decrease in IOP was significantly more pronounced in the propofol group than in the sevoflurane group.

Effect of Healon5 and 4 other viscoelastic substances on intraocular pressure and endothelium after cataract surgery.

PURPOSE: To compare the ophthalmic viscoelastic device (OVD) Healon5 (sodium hyaluronate 2.3%) with 4 other commonly used OVDs during phacoemulsification and intraocular lens implantation in terms of influence on intraocular pressure (IOP) postoperatively and endothelial cells preoperatively and postoperatively. SETTING: Department of Ophthalmology, Ruprecht-Karls-University Heidelberg, Germany. METHODS: This clinical randomized prospective study, in which patients and observer were masked, comprised 81 eyes. Seventy-four eyes (mean patient age 71.2 years +/- 7.8 [SD]) completed all preoperative and 5 postoperative examinations. The OVDs used were OcuCoat and Celoftal (hydroxypropyl methylcellulose 2.0%), Viscoat (sodium hyaluronate 3.0%-chondroitin sulfate 4.0%), Healon GV (sodium hyaluronate 1.4%), and Healon5 (sodium hyaluronate 2.3%). Intraocular pressure was measured by standard Goldmann applanation tonometry preoperatively and 4 to 6 and 24 hours and 7, 30, and 90 days postoperatively. Endothelial cell counts were done preoperatively and 90 days postoperatively using a Pro/Koester WFSCM contact endothelial microscope. Exclusion criteria were IOP greater than 21 mm Hg at the preoperative examination, age younger than 40 years, significant corneal pathology, and a history or presence of uveitis or pseudoexfoliation syndrome. RESULTS: All groups had increased IOP 4 hours postoperatively. The Healon5 group had the highest mean pressure (24.9 mm Hg) followed by the Viscoat group (23.6 mm Hg). The mean IOP in the other OVD groups was less than 22.1 mm Hg. These differences were not significant. Twenty-four hours postoperatively and at all subsequent examinations, mean IOP was below 20 mm Hg. The Healon5 group had the lowest mean endothelial cell loss (6.2%), significantly lower than in the other groups (P < .02). CONCLUSION: With all 5 OVDs, endothelial cell loss was found, with the lowest in the Healon5 group, and IOP was increased 4 to 6 hours postoperatively. After 24 hours, no significant increases in IOP were noted.

[Ab interno trabeculectomy with the Nd:YLF picosecond laser]. / Ab-interno-Trabekulotomie mit dem Nd:YLF-Pikosekundenlaser.

BACKGROUND: The outcome of glaucoma surgery is limited by scar formation. As an alternative to current techniques, the opening of the trabecular meshwork ab interno may lead to increased outflow. This study examined the Nd:YLF picosecond laser for ab interno ablation of the trabecular meshwork without opening of the eye. PATIENTS AND METHODS: A Nd:YLF picosecond laser was used which allows tissue to be ablated even through fluids. We performed ablation with different spot sizes and energies in postmortem eyes. Afterwards the effect of the laser treatment was examined by electron microscopy. RESULTS: The ablation threshold for the cornea was found to be 20 J/cm2 for a pulse width of 30 ps. At a lower level of energy (10 J/cm2) ablation of the trabecular meshwork was possible. The size of the focus which was limited by the optics of the slit-lamp was about 50 microns. CONCLUSION: These initial results with a Nd:YLF picosecond laser confirm the possibility of ablating tissue in the trabecular meshwork ab interno without the need to open the eye.

[Circumscribed choroidal granulomatous inflammation after perforating injury. A histopathological study of four eyes]. / Fokale granulomatöse Entzündung der Aderhaut nach perforierender Verletzung. Histopathologische Studie von vier Augen.

BACKGROUND: This study was performed to describe the clinicopathologic features of patients wo showed circumscribed choroidal granulomatous inflammation after trauma. METHODS: We examined histologically 4 eyes which had been enucleated within 4 weeks after treatment for perforating trauma. The second eyes of the patients were not affected. RESULTS: Four enucleated eyes with perforating injuries had focal uveal granulomatous inflammation of the posterior choroid. None of these eyes contained Dalen-Fuchs' nodules. One eye had a disrupted lens without lens-induced inflammation. All eyes exhibited choroidal ruptures. Foreign material could be detected in one of these eyes. CONCLUSIONS: Focal choroidal granulomatous inflammation may occur as a result of penetrating ocular trauma. The origin of this condition is unknown, although a foreign body reaction and choroidal rupture may be involved in the pathogenesis of the granulomatous inflammation.

[Painless orbital swelling after sojourn in tropics. Cysticercosis and other parasitic eye diseases]. / Schmerzlose Orbitaschwellung nach Tropenaufenthalt. Zystizerkose und andere parasitäre Augenerkrankungen.

BACKGROUND: The differential diagnosis of painless orbital swelling is complex and based on radiological and physical examination as well as laboratory tests. Due to increasing tourism to exotic countries a thorough history is important to observe diseases which are rare in industrialised countries but frequent in developing countries. PATIENT: A 30-year-old man complained about a painless orbital swelling in the absence of general symptoms. Orbital examination revealed a normal globe. MRI scan and B-scan ultrasounds showed an orbital cyst with a diameter of 1 cm. The patient's history disclosed lengthy travel to India as well as South East Asia. RESULTS: Histopathological examinations following excision of a whitish intraorbital mass showed a cream-white, thin walled cyst with a single central invaginated scolex with suckers and hooklets. This finding is characteristic for cysticercosis. CONCLUSIONS: Cysticercus cellulose is the larval stage of the pork tapeworm Taenia solium. It is transmitted by ingestion of contaminated food or water. Ocular affection is reported concerning the vitreous or subretinal localisation, less often in the anterior segment, subconjunctiva or orbita. Especially after trips to tropical regions, parasitic diseases should be kept in mind when dealing with unusual eye symptoms. Besides cysticercosis there are e.g. echinococcosis, onchocercosis (river blindness) and infections with toxocara or Loa loa.

[Late diagnosis of Morquio syndrome. Clinical histopathological findings in a rare mucopolysaccharidosis]. / Spätdiagnose eines Morquio-Syndroms. Klinisch-histopathologische Befunde einer seltenen Mukopolysaccharidose.

BACKGROUND: The Morquio syndrome is a rare autosomal-recessive mucopolysaccharidosis. The Morquio syndrome is characterized by a reduced activity of N-acetylgalactosamine-6-sulfate-sulfatase (type A), or beta-galactosidase (type B). This deficiency leads to a lysosomal storage disease with accumulation of keratan sulfate und chondroitin-6-sulfate in connective tissue, skeletal system und teeth. Consequently, abnormalities of the skeletal system, aortic valvular disease and dental abnormalities occur. Ophthalmologically, diffuse corneal opacification and alterations of the trabecular meshwork--occasionally leading to glaucoma--can be found. CASE REPORT: A 44-year-old woman asked for perforating corneal transplantation because of corneal clouding on both eyes. Besides, she suffered from dwarfism of unclear reason. The diffuse corneal clouding and the dwarfism suggested a systemic-metabolic disease. Thus, further radiologic and medical investigation was started. RESULTS: Radiologically, a kyphoscoliosis, a pectus carinatum, a luxation of both hips, and a gonarthrosis were recognized. Fibroblast culture of a skin biopsy showed reduced activity of N-acetyl-galactosamine-6-sulfate-sulfatase. This was the proof of Morquio syndrome type A. The explanted corneal button showed granules of acid mucopolysaccharides. Those were in the epithelial and endothelial cells and in the corneal stroma. CONCLUSIONS: To our knowledge, a Morquio syndrome has never been diagnosed with an adult and only after the ophthalmologist gave a hint. This can only be explained by the comparative mild expression of the disease in this patient. Diagnosis of Morquio syndrome is important because the frequent odontoid hypoplasia can lead to a deadly atlanto-axial instability, if not treated.

[Cataract surgery in 79 patients with relative anterior microphthalmus (RAM): a review of anatomy, associated pathology and complications]. / Besonderheiten der Kataraktchirurgie bei 79 Patienten mit relativem anterioren Mikrophthalmus (RAM): Eine Ubersicht zur Anatomie, assoziierten Pathologie und Komplikationen.

BACKGROUND: Naumann has coined the term relative anterior microphthalmus (RAM) for eyes with a dysproportional small anterior segment but no further malformation. Those eyes are characterized by corneal diameters of < 11 mm and total axial length of > 20 mm. PATIENTS AND METHODS: To evaluate and define morphometrical data and risk factors for cataract surgery in patients with relative anterior microphthalmus (RAM) 112 cataract operations of 79 patients with RAM were analysed. Associated ocular pathology (such as glaucoma, previous surgical interventions, etc.) and complications of cataract surgery were recorded. RESULTS: Average corneal diameter was 10.7 +/- 0.34 mm, AC-depth was 2.20 +/- 0.49 and average lens thickness 5.05 +/- 0.45 mm. Fifty five percent of the patient revealed myopic refraction. There was a high incidence of glaucoma (77%), cornea guttata (46.6%) and Pseudoexfoliation syndrome (16%) in the RAM-group. Sixty percent of patients previously underwent glaucoma surgery. After cataract surgery 51.2% of patients achieved a visual acuity of > 0.5; 69.8% > 0.4. The IOP was preoperatively 16.5 +/- 5.8 mm Hg (with 1.3 +/- 1.4 antiglaucomatous drugs). Postoperatively IOP dropped significantly to 13.6 +/- 3.2 mm Hg (with significant reduction of treatment (0.6 +/- 1.0) (p < 0.01). The anterior chamber depth deepened from 2.42 +/- 0.47 mm to 3.33 +/- 0.72 mm. CONCLUSIONS: The special anatomical situation in RAM is responsible for the high incidence of glaucoma and postoperative complications after cataract surgery. Cataract surgery helps not only to restore vision but also facilitates handling and regulation of intraocular pressure.