Web4 mrt. 2024 · Mitochondrial DNA (mtDNA) depletion syndromes are a group of autosomal recessive disorders associated with a spectrum of clinical diseases, which include progressive external ophthalmoplegia (PEO). They are caused by variants in nuclear DNA (nDNA) encoded genes, and the gene that encodes for mtDNA polymerase gamma … Web1 dag geleden · Complete bilateral horizontal gaze paralysis is a rare disorder which has been reported in bilateral pontine lesions due to infarction, 1 haemorrhage, 2 3 or metastasis. 4 Demyelinating lesions …
Whole-Exome Sequencing Identifies a Novel POLG Frameshift …
Web5 sep. 2024 · Internuclear ophthalmoplegia (INO) describes a clinical syndrome of impaired adduction in one eye with dissociated horizontal nystagmus of the other … WebThe Duane syndrome is a strabismus syndrome which is characterized by congenital non-progressive horizontal ophthalmoplegia which primarily affects the abducens nerve. Approximately 70% of the individuals with the Duane syndrome have an isolated disease. We have described here, a case of bilateral Duane syndrome with associated anamolies. perry rickel
Approach to Double Vision in the ED — NUEM Blog
WebOphthalmologic symptoms are common in patients with movement disorders and adversely impact their quality of life. They may arise from problems with visual processing, impaired subcortical and cortical control of eye motility, and other still poorly understood mechanisms. Some ophthalmologic… Web19 jul. 2001 · Key points. • Horizontal gaze palsy is usually due to lesions of supranuclear, nuclear, and infranuclear pathways of horizontal of eye movements in the pons. • Palsy of all types of horizontal movements implicates the abducens nucleus, whereas palsies of saccades alone are due to lesions of the parapontine reticular formation. WebChronic progressive external ophthalmoplegia (CPEO) describes an array of hereditary myopathies affecting extraocular muscles (EOMs), commonly manifesting as bilateral … perry richardson wiki