Ossification of the choroid: three clinical cases and literature review of the pathogenesis of intraocular ossification.

OBJECTIVE: A presentation of the clinical and pathogenic aspects of choroidal ossification. CASES PRESENTATION: We report three clinical cases of choroidal ossification: choroidal osteoma, ossified choroidal hemangioma and total ossification of the choroid. The three patients underwent complete eye examination. The optical microscopy of a sample of ossified choroidal tissue revealed a spongy, osseous structure consisting of circular osseous lamellae, osteocytes, canaliculi and adipose tissue with microfoci of calcification. DISCUSSION: Choroidal ossification is characterized by reduced frequency of occurrence, accessible clinical diagnosis, and unspecified pathogenesis. Several of the factors identified in the pathogenesis of intraocular ossification may play a role in the ossification of the choroid: chronic inflammatory cells, bone morphogenetic proteins, growth factors and mesenchymal stem cells. In addition to these factors, pericytes have a special role in the pathogenesis of choroidal ossification. Under the influence of bone morphogenetic proteins and growth factors, mesenchymal stem cells differentiate into osteoblasts. They secrete bone matrix (osteoid), whose regeneration and remodeling lead to the formation of bone tissue. The spongy bone structure of choroidal tissue points to a model of endoconjunctive/desmal ossification. CONCLUSIONS: The knowledge of the clinical aspect of ossification of the choroids is required for the differential diagnosis with the posterior pole affections, and also for the prevention and treatment of secondary complications.

[Haemolysis and turbidity influence on three analysis methods of quantitative determination of total and conjugated bilirubin on ADVIA 1650]. / Interférences de l'hémolyse et de la lipémie sur trois méthodes de dosage de la bilirubine totale et conjuguée sur ADVIA 1650.

Plasma bilirubin testing is crucial to prevent the occurrence of neonatal kernicterus. Haemolysis may occur during sampling and interfere with bilirubin determination. Moreover, lipidic infusions may induce plasma lipemia and also interfere with bilirubin measurement. We evaluated the interference of haemolysis and lipemia with three methods of total and direct bilirubin measurement adaptated on an Advia 1650 analyser (Siemens Medical Solutions Diagnostics) : Synermed (Sofibel), Bilirubin 2 (Siemens) and Bilirubin Auto FS (Diasys). The measurement of total bilirubin was little affected by haemolysis with all three methods. The Bilirubin 2 (Siemens) method was the less sensitive to haemolysis even at low bilirubin levels. The measurement of conjugated bilirubin was significantly altered by low heamoglobin concentrations for Bilirubin Auto FS(R) (30 microM or 0,192 g/100 mL haemoglobin) and for Synermed (60 microM or 0,484 g/100 mL haemoglobin). In marked contrast, we found no haemoglobin interference with the Direct Bilirubin 2 reagent which complied with the method validation criteria from the French Society for Biological Chemistry. The lipemia up to 2 g/L of Ivelip did not affect neither the measurement of total bilirubin for all three methods nor the measurement of conjugated bilirubin with the Diasys and Siemens reagents. However, we observed a strong interference starting at 0,5 g/L of Ivelip with the Synermed reagent. Our data suggest that both Siemens and Diasys methods allow to measure accurately total and conjugated bilirubin in hemolytic and lipemic samples, nevertheless, the Siemens methodology is less affected by these interferences.

Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease.

The beta-site of beta-amyloid precursor protein cleaving enzyme (BACE) cleaves the beta-amyloid (Abeta) precursor protein at the N-terminal end of Abeta, allowing for the production of Abeta by C-terminal gamma-secretase cleavage. We hypothesized that over-activity of BACE might lead to the overproduction of Abeta, hence causing Alzheimer's disease (AD). Molecular genetic analyses of BACE in 9 autosomal dominant AD families and a population-based sample of 101 presenile AD cases did not identify genetic linkage, pathogenic mutations or genetic association with BACE, suggesting that BACE is not genetically involved in the etiology of AD.

[Myelinated nerve fibers associated with cilioretinal artery occlusion]. / Les fibres nerveuses à myéline associées à une occlusion de l'artère ciliorétinienne.

Although the myelinated nerve fibers are considered as benign, cases associated with retinal vascular abnormalities (telangiectasis, neovascularization, vascular occlusions) have recently been reported, suggesting a possible pathogenic correlation between these elements. Our observation presents a 44-year-old patient, with a sudden decrease of visual acuity in the right eye, discal and peridiscal myelinated nerve fibers, associated with cilioretinal artery occlusion. The general clinical and laboratory examination, except for a drug stabilized arterial hypertension, did not reveal other local or general embolic factors. One year later, the decrease in visual acuity had remained unchanged and the area of the myelinated nerve fibers had diminished. Based on the association between the myelinated nerve fibers, the cilioretinal artery occlusion, the young age of the patient, and the absence of other local or general embolic factors, we consider there is a possible pathogenic correlation between these elements. The action of the myelinated nerve fibers can be explained by a mechanical compression, with the disruption of the cilioretinal artery route, a structurally vulnerable artery.

[Papilloedema and POEMS syndrome]. / Edem papilar si sindrom POEMS.

POEMS syndrome stands for the first letter of the words: polyneuropathy (P), organomegaly (O), endocrinopathy (E), monoclonal component (M), changes of the tegument (S-skin). In 33-84% of the cases, chronic bilateral papilloedema is associated with the syndrome. The disease is a multisystem disorder, a plasma cell dyscrasia being present, often associated with Castleman disease. Inflammatory cytokines, endothelial vascular growth factor and human herpes virus-8 are thought to play an important role in pathogenesis. This summary is about a 16 year old female patient, where the diagnosis of POEMS syndrome was elaborated based on the systematization of the clinical symptomatology, developed over a long period of time. Based on the latest data from literature, peculiarities of diagnosis, pathogenesis and therapy of the disease are being discussed.

[Serpiginous choroiditis - clinical study]. / Coroidita serpiginoasa--studiu clinic.

The work shows a retrospective study a period of 12 years, on a number of 34 cases of serpiginous choroiditis. The average age of the patients was 36 years (29-68). The start of the illness was juxtapapillary in 99.1% and macular on 5.9% of the cases. The bilateralism was present in all the cases (delayed start), and the visual acuity was strongly affected in macular localizations. The ophthalmoscopical and angiofluorographic aspect is specific for all the evolutive phases, and the extension of the lesions is made by means of pseudopodia. problems of differential diagnosis, pathogenesis (hereditary, inflammatory, vascular) are discussed. We have obtained satisfying results by triple association of immunosuppressants: azathioprine, cyclosporins and prednisone.

[An efficacy study of lodoxamide treatment in allergic eye lesions]. / Studiu privind eficacitatea tratamentului cu lodoxamida în afectiunile alergice oculare.

Lodoxamid is an antiallergic drug, which stabilizes the mast cells' membrane blocking the release of the type I hypersensitivity reaction chemical mediators. A number of 25 patients with ocular allergic diseases (allergic conjunctivitis, vernal and atopic keratoconjunctivitis, giant papillary conjunctivitis), were included in this study. Lodoxamid, solution 0.1% (Alomide), was given 4 times daily for 6 weeks. The study's aim was to assess the lodoxamid's efficiency, on the ocular signs and symptoms. The study's results showed a significant improvement, or the disappearance of the ocular allergic disease. It is debated upon the lodoxamid's way and place of action, in blocking the type I hypersensitivity reaction. The lodoxamid's efficiency is due to its pharmacological features, by means of which it is effective on many links of the pathogenic chain: mast cells, eosinophils, lymphocytes, neutrophils, antigen presenting cells. Due to its action lodoxamid stabilizes the mast cell's membrane, and inhibits the release of histamine, prostaglandins, leukotrienes, triptase, interleukines -4, -8 and TNF-. During therapy with lodoxamid recruitment and activation of eosinophils is decreased, causing a significant reduction of the basic major protein, cationic eosinophilic protein, eosinophilic derived neurotoxin, eosinophilic peroxidase. Lodoxamid reduces the expression of ICAM-1 on the surface of the antigen presenting cells, and decreases the number of the TH2 cells, from the tears of the allergic patients.

[Colobomatous pits of the optic nerve papilla associated with serous retinal detachment. The clinical and pathogenic aspects]. / Foseta colobomatoasa a papilei nervului optic, asociata cu decolarea seroasa a retinei. Aspecte clinice si patogenice.

The present study is about a number of 19 cases (19 eyes), the patients having a congenital pit of the optic papilla (CPP) complicated with serous retinal detachment (SRD). The cases were selected, from a group of 41 patients with CPP. Average age of the cases was 37(31-54) years. The serous retinal detachment appeared under two different clinical appearances: the detachment of the internal retinal layers (DIRL) or retinal schisis, 10 cases, located between the papillae and macula, and involving the optic disc; the detachment of the external retinal layers (DERL), 9 cases, located within the macular area, without involvement of the optic disc. A number of 8 cases (42%) developed a macular hole, located within the external retinal layers. The cases with DIRL had better visual acuity, compared to those with DERL. This study proves the bilamellate character, of the serous retinal detachment. The disease starts with DIRL (retinal schisis), due to fluid passing at the level of the CPP and then DERL develops as a complication, following the degenerescence of the retinal layers within this area.

[Anterior ischemic optic neuropathy secondary to retrobulbar hematoma]. / Neuropatie optica ischemica anterioara secundara hematomului retrobulbar.

Two clinical cases are displayed, age over 70, with multiple vascular risk factors; following the retrobulbar injection performed for cataract surgery, retrobulbar hematoma and ischemic anterior neuropathy developed as complications. Pathogenesis of the optic ischemic anterior neuropathy may be explained by changes of a precarious hemodynamic balance and witch was previously settled, due to mechanic compression and increase of the intraocular pressure, which lead to the decrease of the blood pressure and implicitly to the development of optic neuropathy.

The alpha2-macroglobulin gene in AD: a population-based study and meta-analysis.

BACKGROUND: Whereas several authors recently reported a positive association between the alpha2-macroglobulin gene (A2M) and late-onset AD (LOAD), others were unable to replicate these findings. Early-onset AD (EOAD) is defined as onset age <65 years. Virtually all patients with LOAD are >65 years of age. OBJECTIVE: To evaluate the role of A2M in AD, the authors conducted a population-based study of EOAD and LOAD as well as a meta-analysis of all studies conducted to date. METHODS: Patients with EOAD (n = 100) were derived from a population-based study in four northern provinces of the Netherlands and the area of metropolitan Rotterdam. Patients with LOAD (n = 344) were drawn from the Rotterdam Study, a population-based prospective study on residents aged 55 years and over of a Rotterdam suburb in the Netherlands. Two polymorphisms were studied, A2M-I/D and A2M-Ile1000Val, in relation to the APOE epsilon4 allele (APOE*4). RESULTS: No genotypic or allelic association was found for either polymorphism in the population-based series of patients with LOAD. In patients with EOAD without APOE*4, a significant increase of carriers of A2M-1000Val was found. The meta-analysis of available published case-control data on these polymorphisms in white and mixed ethnic populations yielded no significant differences between cases and controls. Pooling the Asian studies conducted to date showed a significant decrease in the frequency of A2M-D among patients. CONCLUSIONS: These results suggest that A2M is not genetically associated with LOAD in white patients or mixed populations as found in the United States. In these populations A2M does not have clinical relevance. From a scientific perspective, the findings on EOAD and Asian patients require replication and further research in the A2M region.

[Difficulties of diagnosis in a case of optic nerve drusen]. / Dificultati de diagnostic într-un caz de drusen papilar.

This paper presents a particullary case of optic nervue drusen. Ophthalmoscopic features (superficial drusen in one eye and deep drusen in another), clinical association with anisometropia and ambliopia, wrong interpretation of PEV and tomodensitometry mod to diagnostic confusion, supplementary investigations, prolonged and expensive treatment.

[Cytomegalovirus retinitis and optic neuropathy in a case of an infectious HIV syndrome]. / Retinita cu citomegalovirus si neuropatie optica într-un caz de sindrom infectios HIV.

It is presented a case report of HIV syndrome complicated with cytomegalovirus retinitis and anterior ischemic optic neuropathy. It is reported a 36-years-old with type-B hemophilia and HIV-positive since few years. Despite treatment not recovered of ocular findings is obtained. Some literature data about ocular complications in HIV syndrome, particular features of CMV retinitis and anterior ischemic optic neuropathy etiopathogenesis are discussed.

[Anterior ischemic optic neuropathy after systemic hypotension and anemia]. / Neuropatie optica ischemica anterioara dupa hipotensiune sistemica si anemie.

There are shown two cases of anterior ischemic optic neuropathy produced by arterial hypotension and anemia, due to a gastric bleeding and a hemodialysis treatment. Arterial hypotension can obliterate the optic nerve arteries, because of a weak haemodynamic balance previously affected, modifying the perfusion pressure at this level. The acute or chronic haemorrhages can produce anterior ischemic optic neuropathy in patients with vascular risk factors, by means of arterial hypotension and secondary anemia. Hemodialysis can produce anterior ischemic optic neuropathy through secondary arterial hypotension. It is necessary an emergency therapy to reuse arterial blood pressure and rearrange the hemodynamic balance.

[Cystic iris tumors]. / Tumori iriene chistice.

The paper approaches a rare ophthalmological pathology, cystic iris tumors. The authors show two clinical cases treated in the Clinic of Ophthalmology, Timisoara. In both cases the clinical and paraclinical diagnosis was confirmed by postoperator anatomopathological examination.

[Morphological diagnostic problems in a case of peritoneal blastomycosis]. / Probleme de diagnostic morfologic într-un caz de blastomicoza peritoneala.

Blastomycosis is a mycotic disease, caused by a fungal infection. It has a wide spectrum of clinical presentations, and, particularly, can mimic neoplastic disease. Correct diagnosis of the illness requires fungal culture and biopsy. In Romania, mycotic histopathology is insufficiently developed, and morphological tests are recommended to very few people who present this type of pathology. The paper discusses a case of peritoneal blastomycosis found at a patient with an abdominal pseudotumoral mass. The microscopic exam revealed the characteristic histologic features and budding yeast, in specific dyes, typical to the Blastomyces dermatidis (PAS, silver-methenamin). Authors of this paper hereby intend to draw pathologists' attention on the existence and diagnosis of mycotic lesions, whose number is continuously increasing nowadays.

[Persistent hyperplastic primary posterior vitreous]. / Persistenta si hiperplazia de vitros primitiv posterior.

The clinical study done on 19 cases with posterior primitive vitreous persistency and hyperplasia showed the predilection affectation of youth (average age: 11.2 year old), the frequent lateral localization (17 cases), microcornea (7 eyes), hypermetropia (average value + 3D). The visual acuity was between 1 and unregistered device values, being a function of the papillar ant retinal lesion extension. The ophthalmoscopical aspect was balanced, from a simple prepapillar veil to complex ophthalmological syndromes. Etiopathogenetically, the affection is considered to be a embryogenesis flaw, appeared in the development of the primary hyaloid-vitreous complex, described by an incomplete resorption and a hyperplasia of its elements. The problems of differential diagnosis and treatment are extensively presented.

[Terminology and classification of macular degeneration of old people (MDO)]. / Terminologia si clasificarea degenerscentelor maculare ale vârstnicului. Puncte de vedere.

The paper presents the main clinical and histopathological research, relevant for the evolution of concepts regarding the terminology and classification of MDO. Because of the insufficient knowledge of the etiopathogenic under-stratum of the affection, a thorough classification could not have been elaborated until now. We propose a classification based on the clinical aspect and the histopathological under-stratum of the affection. Two main degenerative categories could be revealed: the senile macular degeneration of the old man, located at the level of the "choroid papilla, EPR, Bruch membrane" complex; other forms of macular degeneration of the old man, located at the level of retinal structures. For the Romanian literature, we propose the term "macular degeneration of the old man". The term is considered stylistically adequate and more accurate, compared with the term "macular degeneration related to age".

[The retinochoroidal ischemia syndrome. Its classification, etiopathogenesis and clinical aspects]. / Sindromul de ischemie retinocoroidiana. Clasificare, etiopatogenie, aspect clinic.

The analysis of some clinical cases of retinochoroidal ischemia permitted to the authors the elaboration of some considerations, looking classification, etiopathogenesis and clinical aspect of the cases. At the base of ischemic vascular syndrome classification were two factors: the place of vascular obstacle (extra/intraocular) and the predominant clinic syndrome (retinal/choroidal). Going from this reasons the proposed classification includes three principal parts: The predominant retinal ischemic syndrome (extraocular/intraocular retinal obliteration). The predominant choroidal ischemic syndrome (intraocular obliteration-choriocapillary/ACSP). The ischemic retinochoroidal syndrome (mixed). Are commented in great detail, etiopathogenic and clinical aspects by the principal ischemia syndrome.

[Chronic ischemic ophthalmopathy in Takayasu-Onishi disease]. / Oftalmopatia ischemica cronica în boala Takayasu-Onishi.

The cronical ischemical ophthalmopathy represents an ocular clinical syndrome with well-defined clinical particularities. It is the effect of the decrease of the perfussion pressure at ACR level, during a long time period, caused by the stenosis of the aortic arch and his main branches. The paper presents a clinical observation of cronical ischemical ophthalmopathy having in ethiology the unspecific aortitis or the Takayasu-Onishi diasease. It is extensively discussed the ocular clinical syndrome and the particularities of the Takayasu-Onishi disease.