New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene.

PURPOSE: To report new findings in the CHARGE syndrome with phenotypic anomalies associated with the R2319C mutation in the CHD7 gene. METHODS: Fundoscopic photography, ultrasonography, fluorescein angiography, optical coherence tomography (OCT). Mutational analysis of the CHD7 gene in lymphocyte DNA. RESULTS: Large pale optic discs with a fibrous elevation and colobomata and arterio-venous anastomoses with enlarged veins in optic discs were detected. OCT revealed numerous flat cystic spaces. The genetic study revealed the R2319C mutation in the CHD7 gene. CONCLUSIONS: The CHARGE syndrome associated with the R2319C mutation in the CHD7 gene comprised: cystic spaces in the colobomatous optic disc and intrapapillary arterio-venous anastomoses.

[Pathogenesis of Purtscher's retinopathy and Purtscher-like retinopathy]. / O etiopatogenezie Purtscher-retinopathie i Purtscher-like retinopathie.

PURPOSE: The pathogenesis of Purtscher's retinopathy (PR) or Purtscher-like retinopathy (PIR) is illustrated on two case reports. MATERIAL AND METHODS: Five patients with PR or PIR were examined ophthalmologically. Fluorescein angiography, fundus photography, visual field testing, and electroretinography were also performed. RESULTS: In three cases, the PIR was observed after acute pancreatitis, in one case it arosed from cryoglobulinemy, because of hepatitis C, and in one case it was due to a classic PR after the thorax trauma. In the case of a slow resolution of retinal edema, atrophy of the retinal pigment epithelium and optic nerve, occurred. The therapy has been based on the internal medicine treatment of the causal disease and the administration of corticosteroids, to reduce retinal edema. CONCLUSIONS: PR and PIR are interdisciplinary diseases caused by microembolization of retinal vessels. If changes are intensive and long lasting, visual prognosis is poor.

Tick inoculation in an eyelid region: report on five cases with one complication of the orbital myositis associated with Lyme borreliosis.

PURPOSE: To determine the frequency and dependence of Lyme borreliosis after tick infestation in the eyelid region. MATERIAL AND METHODS: Five patients after tick inoculation were investigated by immunofluorescence assays for IgM and IgG system). Ophthalmologic evaluation of myositis was supported with MRI, laboratory, and internal clinical investigations. RESULTS: Four children showed negative Borrelia serology after a bite from a tick. In one case the left abducens nerve palsy was found, which was diagnosed in MRI as a thickened left lateral rectus muscle. The diagnosis of myositis with positive Borrelia burgdorferi serology was consistent with Lyme borreliosis. Other laboratory examinations were negative. The symptoms were reduced after treatment with ceftriaxon. CONCLUSIONS: Lyme borreliosis was found in one in five patients after tick infestation in the eyelid region. Antibiotic prophylaxis against Lyme borreliosis with ampicillin is recommended for children after a tick bite.

[The Klippel-Trenaunay-Parkes-Weber syndrome as an example of genetic disorder of angiogenesis]. / Zespól Klippela-Trenaunaya-Parkesa-Webera jako przyklad genetycznego zaburzenia angiogenezy.

PURPOSE: To report on the congenital vascular malformation snyndrome Klippel-Trenaunary-Parkes-Weber (KTPW), which has recently been the focus of research on angiogenesis. MATERIAL AND METHODS: A case report which includes a fluorescein angiography, cerebral MRI, the investigation of parameters for congenital disorders of blood coagulation, structural and numerical analyses of chromosomes. RESULTS: All three typical symptoms of KTPW were found. An old cerebral insult in the thalamus with vascular encephalopathy was established with MRI. The direction of the venous drainage in the fusiform arterial-venous malformation of conjunctiva in the right eye has been changed during the observation. Dilated retinal veins were observed in the fluorescein angiography of the right eye. Structural changes in karyograms were also seen. CONCLUSIONS: The congenital arterial-venous malformation in conjunctiva has been changed through venous thrombosis during our long observation. Anticoagulation therapy or surgical therapy of pathologic veins in childhood, should be recommended.

[Genetic diagnostic methods in ataxia-telangiectasia (Louis-Bar syndrome)]. / Metody genetyczne w rozpoznaniu: ataksja teleangiektazja (syndrom Louis-Bar).

PURPOSE: To introduce important genetic diagnostic methods for diagnosis of ataxia telangiectasia. MATERIAL AND METHODS: Methods comprised: standard neuropsychiatric and ophthalmologic clinical investigations, analysis of karyograms obtained from cultured lymphocytes, and electronic measurements of lymphocyte nuclei for establishing phases of the cell cycle in radiated and non-radiated lymphocytes that were recovered from a patient. RESULTS: Cerebellar atrophy in MRT was associated with typical neuroophthalmological symptoms. Structural chromosomal abnormalities with deletion or translocation was found. The cell cycle study showed a characteristic high sensitivity on radiation; particularly high reduction of active cells after radiation was observed in the G1 and S phases. The defective G1/S and S checkpoints were established. The G2/GF ratio was more than threefold higher compared to that of the control group. A very high alpha-fetoprotein level was also noticed. CONCLUSIONS: A clinical diagnosis of ataxia-telangiectasia should be confirmed through genetic methods.

[Arterio-venous fistula of cavernous sinus. A comparison of iatrogenic direct fistula with low flow dura shunt syndrome]. / Przetoki tetniczo-zylne w zatoce jamistej. porównanie przebiegu jatrogennej bezposredniej przetoki z przetoka posrednia "low flow".

PURPOSE: Comparison of symptoms of the low-flow dura shunt syndrome as a small arterial anomaly in the cavernous sinus with the direct, traumatic originated internal carotid artery fistula. MATERIAL AND METHODS: The clinical case report for two patients. The first case with a direct cavernous sinus fistula was diagnosed using angiography and the patient was treated with a detachable balloon catheter through the inferior petrousal sinus. The second case after the diagnosis was followed up with doppler sonography. RESULTS: The first case developed the direct cavernous sinus fistula after second thrombarteriotomy of the right internal carotid stenosis. The diagnosis, by typical clinical symptoms, was confirmed through the cavernous sinus angiogram with enlarged superior and inferior ophthalmic veins. The drainage was accomplished through the inferior petrousal sinus and the intercavernous sinus with accompanying signs of cortical drainage. All clinical symptoms, except for the abducens nerve palsy and the incomplete oculomotor nerve palsy, were reduced after neurosurgical occlusion of the fistula. The second case with the low-flow dura shunt syndrome was symptomatic by hypertension crisis and some spontaneous reduction was noticed. CONCLUSIONS: The iatrogenic direct cavernous sinus fistula is seldom but a very dangerous vital complication of the internal carotid arterial stenosis surgery and must be immediately closed through the endovascular embolisation therapy. The low-flow dura shunt syndrome may be in 50% occluded spontaneously.

[Long-term follow-up of bilateral endogenous Klebsiella endophthalmitis]. / Langzeitbeobachtung nach einer bilateralen endogenen Klebsiella-Endophthalmitis.

BACKGROUND: Endophthalmitis subsequent to Klebsiella sepsis leads to functional blindness in most cases and is very difficult to treat. Every successful therapeutic modality can therefore help in creating an optimal therapeutic plan. CASE REPORT: A 69-year old diabetic patient exhibited bilateral Klebsiella endophthalmitis with sepsis after a pneumonia. Two intravenous antibiotics were used: aminoglycosides (Gentamycin) and cephalosporins (Cefotaxim or Cefuroxim) with local parabulbar injections of Prednisolon. The long-term follow-up of four years provided some overview of morphological aspects of the development of endophthalmitis. Characteristic greyish hypopyon was seen in both eyes, which was more pronounced in the left eye than in the right. The left eye became phthisic. After resorption of the hypopyon in the right eye and prolonged resorption of the subretinal abscess for 9 months a useful visual acuity at 0.2 was achieved. Two years after the endophthalmitis a cataract surgery with implantation of a posterior chamber silicon lens was performed and good visual acuity (0.6) was achieved. After four years, the subretinal abscess left an extremely large, sharp bordered, unpigmented scar up to the sclera. CONCLUSION: An early diagnosis and adequate long-time antibiotic therapy under the co-operative supervision of an ophthalmologist with internist appears to be most important for the therapeutic success in Klebsiella endophthalmitis.

[Neuroendocrine tumors of visual system--Merkel cell carcinoma]. / Neuroendokrynne nowotwory narzadu wzroku--rak z komórek Merkela.

PURPOSE: To describe cases of Merkel cell carcinoma. Belonging to the APUD-system tumors, the highly malignant Merkel cell carcinoma affects in 10% the ocular adnexes, 50-60% of the patients develop a metastasis to the lymph nodes, and the five year survival rate is only 38%. 30% of the tumors recur after one year. MATERIAL AND METHODS: In the last eight years the Merkel cell carcinoma was diagnosed in four patients and was treated by wide resection, radiotherapy and cytostatic drugs. Histological and immunohistological examination was performed. RESULTS: In three cases the carcinoma was diagnosed in the upper lid and in one case in the eyebrow. Two patients could not be cured. Characteristic is clinical uniform appearance of the tumor as painless, reddish nodule with smooth surface, telangiectatic blood vessels, fast growing and fast leading to metastasis. Furthermore, the histological characteristics of the tumor were found as well as NSE, S100 proteins and neuroendocrine granula, which allow to classify to the APUD--system and to distinguish from the more benign tumors. CONCLUSIONS: As neuroendocrine tumor the Merkel cell carcinoma represents a high malignant tumor in ophthalmology. The certain diagnosis is only made by histological and immunohistological examination. A full-thickness resection followed by radiation, should be performed as soon as possible.