[Association of the ABCB1 gene with risk for uveal melanoma].

The study investigated the association of the ABCB1 C3435T polymorphism gene with the risk for uveal melanoma (UM). Genotyping was carried out using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. All the tumors under study were histologically verified. The patients with UM were found to have a high frequency of predisposing alleles and genotypes of this polymorphism in the patients with UM. The CC genotype of the ABCB1 C3435T polymorphism was shown to be associated with the increased risk of UM (OR = 8.5; p = 7.10(-6)). A significant correlation was first found between the frequency of the CC genotype of the ABCB1 C3435T polymorphism and the height of a tumor and degree of its pigmentation (p = 0.0391 and p = 0.0381, respectively, Fisher's test). A marginal association was first shown between the CC genotype of the ABCB1 C3435T polymorphism and the vascular state and histological type.

[Intraocular schwannoma case report: clinical and pathomorphological analysis].

The paper presents a complete clinical, instrumental, histopathological, immunohistochemical, cytological, and molecular-genetic testing of intraocular schwannoma in a 13-year-old girl.

[Retinoblastoma and "pseudoretinoblastoma" in children: clinical, tomographic and serological features].

Clinical and tomographic features of retinoblastoma and posterior pole inflammatory granuloma ("pseudoretinoblastoma") as well as infectious status in both conditions were assessed in 16 children (32 eyes). The data obtained allow differential diagnosis of neoplastic and inflammatory processes and further adequate treatment.

[Evoked retinal and cortical potentials in children with advanced and resistant retinoblastoma after neoadjuvant polychemotherapy and superselective intra-arterial chemotherapy].

Electrophysiological examinations (in accordance with the ISCEV Standards and original protocols) were performed after neoadjuvant chemotherapy or before and after superselective intra-arterial chemotherapy (SIACT) in 18 children aged 1-3 years with either newly diagnosed advanced retinoblastoma (8 eyes) or resistant retinoblastoma (14 eyes). The most considerable decrease in amplitude was demonstrated by the cone response b-wave, photopic 24 Hz flicker electroretinogram (ERG), photopic negative response, and the P1-component of multifocal ERG, indicating a significant dysfunction of bipolar and ganglion cells, more pronounced in the macular zone. After the SIACT, central retinal functions improved. In eyes with retinoblastoma there is a moderate peak latency shortening of the flash visual evoked potential (VEP) P2-component, which reflects functional changes in the central retina rather than those in the visual pathways, and therefore, flash VEP analysis is a useful tool of chemotherapy patient monitoring, especially when electroretinography cannot be performed.

[Ophthalmic oncology: achievements over the last two decades].

The article describes current trends in scientific research, especially those that concern treatment of the most common cancers. The latter include malignant eyelid and conjunctiva tumors, retinoblastoma and choroidal melanoma. Relevant publications in Russian and foreign journals demonstrate a progressive advance in treatment approaches: from radical methods associated with surrounding tissue damage to local tumor destruction. Comparative analysis of the methods and their effectiveness suggest that Russian ophthalmic oncology meets state-of-the-art international criteria.

[Metastatic choroidal carcinoma. Two clinical cases].

Presented clinical cases show significance of up-to-date diagnostic techniques (fluorescence angiography and spectral domain optical coherence tomography) in confirmation of metastatic choroidal carcinoma diagnosis in one case and in contradiction in another and appropriate treatment prescription.

[Spectral domain optical coherence tomography for evaluation of transpupillary thermotherapy efficacy in early uveal melanoma].

Prognostic significant signs of early uveal melanoma were revealed in 51 patients before and 3 months after a single transpupillary thermotherapy session using spectral domain optical coherence tomography with enhanced depth imaging, that allows planning of appropriate eye-preserving treatment.

[Differential diagnosis of early central choroidal melanoma and late stage age-related macula degeneration].

Clinical signs characteristic for early central choroidal melanoma (42 patients) and late stage age-related macula degeneration according to AREDS (47 patients) were determined in 89 patients. These signs allow to differentiate between tumor and degenerative process thus providing appropriate treatment.

[Clinical course and vital prognosis for uveal melanoma in young patients].

The article presents a retrospective analysis of uveal melanoma course which was conducted during 2005-2012 and enrolled 21 patients (13 boys and 8 girls) aged from 1 to 20, representing 1.36% of the total number of patients who had been given treatment over that period. Non-pigmented and poorly pigmented tumors were most common. Morphologically the vast majority of cases were spindle cell tumors. It is shown that most patients of this age group are admitted to specialized medical centers at late stages of the disease, which indicates local lack of early detection and proper ophthalmological assessment.

[The first experience of using OCT in diagnosis of primary and residual retinoblastoma].

21 children with retinoblastoma (32 eyes, 36 lesions) were examined using optical coherence tomography (OCT). Pathognomonic features of initial primary exophytic, endophytic and mixed retinoblastoma were revealed OCT-control allowed to estimate combined treatment efficacy (chemotherapy, brachytherapy, transpupillary thermotherapy) and to reveal signs of latent growth. Thus revealed OCT signs of primary, residual retinoblastoma, retinal scar, zones of latent growth allow early estimation of appropriateness of combined eye-preserving treatment.

[Small retinoblastoma: early diagnosis and combined eye-preserving treatment].

The presented review devoted to early diagnosis and combined eye-preserving treatment of small retinoblastoma emphasizes significance of using optical coherence tomography and transpupillary thermotherapy in malignant retinal tumors along with other options.

[Two cases of bilateral uveal melanoma].

Cases of bilateral uveal melanoma diagnosed with complex of clinical and instrumental methods including fluorescence angiography and optical coherent tomography are presented. Methods described in the article allow to diagnose the malignant ocular tumor at the early stage and to perform further eye-preserving treatment.

[Risk factors of extraocular spread after local treatment of uveal melanoma].

14 cases of extraocular spread in patients with uveal melanoma after previous eye preserving treatment were analyzed. The time of manifestation and risk factors of extrascleral invasion were determined in patients after different local treatment modalities of uveal melanoma.

[Transpupillary thermotherapy in the treatment of recurrent and residual choroidal melanomas: preliminary results].

Thirty-eight patients (16 males and 22 females) with recurrent and residual choroidal melanomas who had undergone brachytherapy were followed up. The indication for transpupillary thermotherapy (TTT) was an active residual tumor (36 patients) and recurrent melanoma (2 patients). The follow-up interval between brachytherapy and TTT was 10 to 127 months. TTT using a diode laser was performed on a Nidek DC 3300 device at a wavelength of 810 nm. The mean tumor prominence prior to TTT was 1.9 mm (range 1 to 3.5 mm), its mean diameter was 8.6 mm (range 4-14.5 mm). Twenty patients were observed over time. The follow-up time after TTT was 3 to 15 months. After the first session of TTT, a positive effect was observed in 15 patients. In 9 patients, the effect was inadequate, which required additional sessions of TTT. Among the early TTT complications, there were superficial petechial hemorrhages, macular edema, exudative retinal detachment above the tumor. Treatment resulted in no complications in 18 patients. Late metastases were seen in none patients. Our investigations have indicated that TTT is a highly effective treatment for recurrent and residual uveal melanomas, which provides complete tumor resorption in 29% of the patients.

[Morphofunctional characteristics of the retina and optic nerve in endocrine ophthalmopathy].

Optic neuropathy is a serious complication of endocrine ophthalmopathy (EOP). The morphological characteristics of the optic nerve (provided by a Heidelberg, HRT II retinotomograph) were compared with the functional impairments of various canals of light, color, and contrast sensitivities (detected by an Offon programme complex, MBN, Moscow). There were decreases in contrast and color sensitivities just at the early stages of the disease and deteriorated functions of contract and color sensitivity canals as optic neuropathy progressed. The HRT II retinotomograph has shown a significant change in the thickness of optic nerve fibers, the area of the optic disk (OD), and the volume of the neuroretinal ring, which corresponds to the magnitude of clinical manifestations and the severity of OD lesion. The first retinal changes appear long before optic nerve compression at the orbital apex (orbital apex syndrome), which are caused by ischemic and hypoxic processes due to orbital soft tissue edema. The most sensitive test in detecting the latent stage of optic neuropathy in EOP is a color and contrast sensitivity topography test. In EOP, the morphological optic nerve changes correlate with functional impairments in different canals of the visual system, reflecting the stage of the disease.

[RB1 and CDKN2A functional defects resulting in retinoblastoma]. / Funktsional'naia patologoia genov RB1 i CDKN2A, privodiashchaia k razvitiiu retinoblastomy.

Multiplex methylation-sensitive PCR was employed in studying the methylation of the RB1 and CDKN2A/p16 promoter regions in 52 retinoblastomas. Aberrant methylation inactivating RB1 was detected in 14 (27%) tumors. Methylation of p16 was for the first time observed in retinoblastoma (9 tumors, 17%). Both promoters proved to be methylated in two tumors. In four tumors, aberrant methylation was combined with structural defects of both RB1 alleles. Aberrant methylation of the p16 promoter was the second mutation event in two tumors and was not accompanied by RB1 defects in one tumor. Complex testing for RB1 mutations, loss of heterozygosity, and functional inactivation of the two genes revealed a molecular defect in at least one allele in 51 (98%) tumors.

[Spectrum and frequencies of RB1 gene structural defects in retinoblastoma]. / Spektr i chastota strukturnoi patologii gena RB1 pri retinoblastome.

The spectrum and frequencies of RB1 structural defects were studied in tumors and peripheral blood lymphocytes of patients with various forms of retinoblastoma. Single strand conformation polymorphism (SSCP) and heteroduplex (HA) analyses, along with direct sequencing, revealed 47 mutations, including 24 new ones. Of these, 42.5% were nonsense mutations, 15% were missense mutations, 15% affected splicing sites, and 27.5% were frameshifts resulting from microdeletions or microinsertions. Six polymorphisms were found, including three new ones located in the coding region. Microsatellite analysis with markers Rbint2, Rbint20, D13S262, and D13S284 revealed a loss of heterozygosity for at least one marker in 71% tumors.

[Molecular diagnosis of retinoblastoma. First experience in Russia]. / Molekuliarnaia diagnostika retinoblastomy. Pervyi opyt v Rossii.

The first experience with molecular diagnosis of retinoblastoma (RB) in Russia is presented. A protocol based on the use of up-to-date molecular diagnostic methods helps detect structural and functional abnormalities in RB1 gene, diagnose RB in disputable cases and at early stages of the disease. Forty-five families with various forms of RB were examined. Twenty-three mutations in various sites of RB1 gene were characterized. Abnormal methylation in the promotor area of RB1 gene was detected in 20% cases and loss of heterozysity by intragene microsatellite markers was detected in 70% cases. Hence, the causes of RB were detected in 80% families, which led to early diagnosis in close relatives of patients and helped evaluate the repeated risk of the tumor in families of patients with RB.