The Role of Mitophagy in Hereditary Optic Neuropathies. Literature Review
Oftalʹmologiâ, 2021 The role of mitophagy in hereditary optic neuropathies is considering in this review. Mitochondria are intracellular double membrane organelles. They are one of the main components of all eukaryotic cells, they perform many different functions in the ...
N. A. Andreeva +4 more
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CLASSIFICATION OF HEREDITARY DISEASES (LECTURE) [PDF]
, 2023 Relevance. The classification of hereditary pathology largely determines the success of diagnosis and treatment of genetically determined diseases. The lecture presents the main criteria for the classification of hereditary pathology, adopted in genetics.
Elena A. Tkachuk, Igor Zh. Seminsky
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Genetics in Ophthalmology II–Anterior Segment Diseases
Türk Oftalmoloji Dergisi, 2012 Genetic diseases are congenital or acquired hereditary diseases that result from structural/functional disorders of the human genome. Today, the genetic factors that play a role in many diseases are being highlighted with the rapid progress in the field
Canan Aslı Utine, Gülen Eda Utine
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Population screening for hereditary and familial cancer syndromes in Valka district of Latvia [PDF]
, 2010 Background The growing possibilities of cancer prevention and treatment as well as the increasing knowledge about hereditary cancers require proper identification of the persons at risk.
Arnis Āboliņš +26 more
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Genetics in Ophthalmology III – Posterior Segment Diseases
Türk Oftalmoloji Dergisi, 2012 Genetic diseases are congenital or acquired hereditary diseases that result from structural/functional disorders of the human genome. Today, the genetic factors that play a role in many diseases are being highlighted with the rapid progress in the field
Canan Aslı Utine, Gülen Eda Utin
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Connexin Mutations and Hereditary Diseases
, 2022 Inherited diseases caused by connexin mutations are found in multiple organs and include hereditary deafness, congenital cataract, congenital heart diseases, hereditary skin diseases, and X-linked Charcot–Marie–Tooth disease (CMT1X).
Jianglin Zheng +3 more
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The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione Toxicity [PDF]
, 2009 Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disease due to mitochondrial DNA (mtDNA) point mutations in complex I subunit genes, whose incomplete penetrance has been attributed to both genetic and environmental factors ...
Achilli Alessandro +49 more
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The Use of AAV Vector-based Gene Therapy in the Treatment of Ophthalmic Diseases. Literature Review
OftalʹmologiâIntroduction. This review article is devoted to the study of the current state of gene therapy using adeno-associated viruses (AAV) in the treatment of ophthalmic diseases.Objective: The purpose: to evaluate the effectiveness and safety of using gene ...
Z. A. Batyrova +3 more
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Spontaneous dislocation of a transparent lens to the anterior chamber: A case report [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2010 Introduction. The causes leading to dislocation of the natural lenses are different involving injuries, hereditary diseases and spontaneous dislocation.
Jovanović Miloš, Stefanović Ivan
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Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy [PDF]
, 2004 Objective: To investigate auditory neural involvement in patients with Leber's hereditary optic neuropathy (LHON).Methods: Auditory assessment was undertaken in two patients with LHON.
Luxon, LM, Ceranic, B
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