[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.

[The value of autofluorescence imaging in diagnosis of retinal diseases].

Results of fundus autofluorescence imaging using confocal scanning laser ophthalmoscope HRA II ("Heidelberg Engeneering", Heidelberg, Germany) are presented. 106 patients with various retinal and optic nerve conditions were examined. The following conditions were diagnosed using autofluorescence imaging: early stage of age-related macular degeneration, macular hard and soft drusen, signs of retinitis pigmentosa, senile macular hole, central serous chorioretinopathy and optic disc drusen.

[Relationship of changes in visual functions and optic disk in patients with glaucoma concurrent with myopia].

Forty-nine myopic patients (70 eyes) aged 2 to 12 years (mean 7 +/- 4.2 years) with primary open-angle glaucoma (POAG) were examined. In patients with glaucoma concurrent with myopia, enlarged peripapillary retinal atrophy is one of the first signs of a progressive process, long optical axis in particular. Reduced visual functions were detectable in fewer cases than were changes in the optic disk and peripapillary retina. The most sensitive methods are in the following order: distant contrast discrimination (DCD), critical flicker fusion frequency (CFFF), Bjerrum's zones, statitic perimetry with a blue object on the Friedman analyzer, automatic static permentry on the Peritest, isoptoperimetry. In patients with POAG and in the majority of POAG concurrent with myopia with an anteroposterior axis (APA) of < 25 mm, excavation was shown to progress depthward and/or widthway with simultaneous narrowing of the neuroretinal rim. In patients with POAG concurrent with myopia at an APA of > 25 mm, peripapillary atrophy initially increased (usually in the temporal quadrant), excavation also widthway in the temporal direction. It is evident from the foregoing that increased peripapillary atrophy may be considered to be a marker of progression of the glaucomatous process in patients with myopia.

[Therapy of fundus oculi vascular pathology by solcoseryl]. / Primenenie solkoserila dlia lecheniia sosudistoi patologii glaznogo dna.

Long (for more than 17 years) therapy of 2331 patients (3122 eyes) with vascular conditions of the fundus oculi by a retinotropic drug solcoseryl showed its high efficacy as a monotherapy and in complex with other traditional and symptomatic treatments. Solcoseryl improved the visual function and hemodynamics of retinal vessels, promoted a more stable and longer stabilization of the treatment results, and accelerated the rehabilitation of patients.

[Ultrasound in the diagnosis of macular pathology of the eye]. / Ul'trazvuk v diagnostike makuliarnoi patologii glaza.

MARK-500 gray-scale digital processing B scanner (ATL) with a probe frequency of 7.5 MHz was employed in examinations of 112 patients with various clinically verified macular conditions. B scanorgams were normal in nearly all dry maculodystrophy cases. In manifest fibrous exudative maculodystrophies the scanograms showed local thickening (up to 2.6 mm on an average) of the inner membranes (edema), dense sites (fibrosis, lipid and protein substance deposits). Only in several Irvin-Hass' syndrome cases with manifest cystous macular edema the scanograms showed local thickening of the membranes. Local detachment of the retina in the macular area was well seen, as was premacular fibrosis. Sub- and proretinal hemorrhages, neovascular membranes, poorly manifest fibrosis within the membranes were as a rule undetectable by echography. In cases with impaired transparency of the optic media or when the pupil cannot be dilated, present-day B echo scanning may be employed to detect grave abnormalities in the macular area.