[Etiology and diagnostics of compressive optic neuropathies]. / Analiz prichin i vozmozhnosti diagnostiki kompressionnykh opticheskikh neiropatii.

PURPOSE: To determine the causes and study the clinical manifestations of compressive optic neuropathy (CON). MATERIAL AND METHODS: The study included 24 male and 36 female patients with CON (in total 60 patients, 97 eyes). All patients underwent standard ophthalmic examination, as well as computer perimetry, magnetic resonance imaging (MRI), and/or computed tomography (CT) of the brain and orbit and magnetic resonance angiography (MRA). RESULTS: Tumor or infiltrative lesions of the anterior optic pathway were detected in 60 patients (97 eyes). In 2/3 of cases, the brain and orbit diseases were established for the first time as the cause of optic neuropathy. Adenoma of the pituitary gland and meningioma as the most common cause of CON was diagnosed in 66%. According to the results of computed perimetry, in 65.9% of cases patients with CON are diagnosed with hemianopsia, while in other cases, other forms of scotomas characteristic for the defeat of any part of the optic nerve may be observed. CONCLUSION: Computed perimetry is the most important study for detection of optic neuropathy. An optic nerve disease of unknown origin is an absolute indication for radiological examination of the brain and eye orbits.

[Analysis of structure, causes, and risk factors of ischemic optic neuro-pathy]. / Analiz struktury, prichin i faktorov riska razvitiia ishemicheskoi opticheskoi neiropatii.

AIM: to analyze the structure, risk factors, and causes of ischemic optic neuropathy (ION). MATERIAL AND METHODS: A total of 239 patients (303 eyes) with ION and 98 patients (185 eyes) with optic disc drusen were examined. All ION patients underwent general clinical assessment. Those under 50 years of age were also tested for antiphospholipid markers and gene polymorphisms of the coagulation system. RESULTS: All patients were found to be exposed to two or more modifiable risk factors of ION. A total of 47.1% of cases were judged as being at anatomical risk of anterior ION (AION) with the cup-to-disc ratio in the second eye of less than 0.15 (of less than 0.25 in 53% of cases). Of 98 patients (185 eyes) with optic disc drusen, 5.4% of cases (10 eyes) developed AION. As many as 22% of ION patients were under 50 years of age. Of them, in 32% primary APS was diagnosed, in 3.6% - secondary (in the presence of SLE); all cases were positive for polymorphisms of the coagulation system that determine genetic predisposition to ION (indeed, the frequency of the latter was significantly higher in these patients than in the control group). CONCLUSION: Ischemic optic neuropathy is an optic nerve disorder that requires thorough medical history taking and comprehensive assessment of the patient in order to identify the causes and risk factors of this disease as well as accompanying pathologies.

[Morphological changes in retina and optic nerve head in patients with Leber's hereditary optic neuropathy].

OBJECTIVE: To study morphological changes of the macula and the peripapillary nerve fiber layer in patients with Leber's hereditary optic neuropathy (LHON). MATERIAL AND METHODS: A total of 21 patients (40 eyes) with LHON and 17 healthy volunteers (33 eyes) of the control group were assessed. Optical coherence tomography (OCT) on RTVue-100 for retina and optic nerve head assessment was performed in all cases. RESULTS: Thinning of the inner retinal layers in nasal and inferior parafoveal sectors takes place in the early acute period of the disease and then spreads to the rest of the macular area. The retinal nerve fiber layer (RNFL) in the early acute period is of more thickness in temporal, inferior, and superior sectors in comparison to controls, but later gradually becomes thinner, especially in the temporal sector. In the late period significant peripapillary RNFL thinning is present in all sectors. CONCLUSION: OCT reveals certain structural changes in the macular area and the peripapillary RNFL that are characteristic of Leber's hereditary optic neuropathy and together with clinical presentation can substantiate the diagnosis.

[Modern opportunities and prospects for studying pathogenesis, diagnosing and treating hereditary optic neuropathies].

OBJECTIVE: To evaluate modern opportunities and prospects for studying pathogenesis and improving diagnostics and treatment of hereditary optic neuropathies (HON). MATERIAL AND METHODS: The article presents summarized data on the pathogenesis, diagnostics, and treatment of HON based on modern methods of assessment. RESULTS: The results of long-term worldwide studies and those performed in the Research Institute of Eye Diseases in collaboration with several other institutions are presented. Genetic testing for mitochondrial and nucleus DNA mutations that have a known association with Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic neuropathy (ADON) allow verification only in half of the cases. Particular features of hereditary diseases, such as incomplete penentrance, variable expression, clinical polymorphism, difficulties in detection of hereditary sings, and genetic heterogeneity, are shown to complicate the diagnosis of HON. Spectral retinal tomography revealed characteristic morphometric changes in the macular region and peripapillary nerve fiber layer in the acute stage of LHON. Hereditary optic neuropathies result from a genetically determined decrease in mitochondrial respiratory chain complexes activity, which is associated with a decrease in ATP production. From that standpoint, studying of mitochondrial oxidative phosphorylation biochemical defects in LHON and ADON is an option for detection of mitochondrial dysfunction. Results of a newly proposed method of mitochondrial membrane potential assessment in skin fibroblasts, which can be used for differential diagnosis of mitochondrial optic nerve diseases, are presented. Possible therapeutic measures for HON are discussed. CONCLUSION: In the prevailing number of cases the described clinical, molecular genetic, and cytological methods ensure proper diagnosis of hereditary optic neuropathies. Prospects of HON treatment, rather ambiguous, are associated with further studying of pathogenesis, development of drugs and gene therapy.

[Hereditary optic neuropathies: clinical and molecular genetic characteristics].

The article presents a review of literature on hereditary optic neuropathies: Leber mitochondrial hereditary optic neuropathy, autosomal dominant and autosomal recessive optic neuropathies, X-linked optic atrophy. Clinical and molecular genetic characteristics are covered. Isolated optic neuropathies, as well as hereditary optic disorders, being a part of a complex syndromic disease are described.

[Clinical and molecular genetic analysis of hereditary optic neuropathies].

DNA samples of 50 patients with optic neuropathy (ON) associated with congenital cataract were studied to find 3 major mt-DNA mutations (m.11778G>A, m.3460G>A, m.14484T>C), mutations in "hot" regions of OPA 1 gene (exons 8, 14, 15, 16, 18, 27, 28) and in the entire coding sequence of OPA3 gene for molecular genetic confirmation of diagnosis of hereditary Leber and autosomal dominant ON. Primary mutations of mtDNA responsible for hereditary Leber ON were found in 16 patients (32%). Pathogenic mutations of OPAl gene (c.869G>A and c. 2850delT) were identified in 2 patients (4%), these mutations were not found in the literature. OPA3 gene mutations were not revealed.