Publications by authors named "Khanakova N"
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).
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.
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.
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.
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.
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- DNA samples from 50 patients with optic neuropathy linked to congenital cataract were analyzed to identify key mutations related to hereditary optical conditions.
- Three major mt-DNA mutations were found in some patients, with 32% having primary mutations associated with hereditary Leber optic neuropathy.
- Additionally, rare pathogenic mutations in the OPA1 gene were identified in two patients, while no mutations in the OPA3 gene were detected.