Results 21 to 30 of about 44,889 (298)
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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Clinical and imaging clues to the diagnosis and follow‐up of ptosis and ophthalmoparesis
Journal of Cachexia, Sarcopenia and Muscle, 2022 Ophthalmoparesis and ptosis can be caused by a wide range of rare or more prevalent diseases, several of which can be successfully treated. In this review, we provide clues to aid in the diagnosis of these diseases, based on the clinical symptoms, the ...
Kevin R. Keene +6 more
doaj +1 more source
Ocular abnormalities in Polish Hunting Dogs
PLoS ONE, 2021 This study aimed to describe and determine the prevalence of ocular abnormalities in Polish Hunting Dogs. The study was conducted with 193 Polish Hunting Dogs: 101 female and 92 male animals, aged between 3 months and 12 years.
Ireneusz Balicki +2 more
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Revista de Investigación Clínica, 2022 Background: Genetic eye disorders, affecting around one in 1000 people, encompass a diverse group of diseases causing severe visual deficiency. The recent adoption of next-generation sequencing techniques, including whole-exome sequencing (WES), in ...
Vianey Ordoñez-Labastida +3 more
doaj +1 more source
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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GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice
Педиатрическая фармакология, 2021 Background. GM2-gangliosidosis, type I (Tay-Sachs disease) is rare hereditary disease caused by mutations in the HEXA gene encoding the alpha subunit of lysosomal hexosaminidase A.
Natalia V. Zhurkova +5 more
doaj +1 more source
Spontaneous Regression of Choroidal Neovascularization in a Patient with Pattern Dystrophy
Case Reports in Ophthalmological Medicine, 2016 Purpose. To present a case of a patient with pattern dystrophy (PD) associated choroidal neovascularization (CNV) that resolved spontaneously without treatment. Methods.
Anastasios Anastasakis +5 more
doaj +1 more source
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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Topographic mapping of retinal function with the SLO-mfERG under simultaneous control of fixation in Best's disease [PDF]
, 2003 Purpose: To introduce the scanning laser ophthalmoscope-evoked mfERG (SLO-mfERG) as a new method to measure focal retinal function. Methods: Sixty-two healthy individuals and 12 patients with Best's disease were examined.
Kalpadakis, P., Rudolph, G.
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DNA Damage and Repair in Eye Diseases
, 2023 Vision is vital for daily activities, and yet the most common eye diseases—cataracts, DR, ARMD, and glaucoma—lead to blindness in aging eyes.
Sang-Eun Lee, Joanna Sohn, Eun-Yong Shim
core +1 more source