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  • dysfunction
  • Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. (definitions.net)
  • autosomal
  • Pitz, Susanne 2018-06-01 00:00:00 Background: α-mannosidosis is a rare, autosomal-recessive, lysosomal storage disease caused by a deficient activity of α-mannosidase. (deepdyve.com)
  • decompression
  • Patients with NAION caused by ischemia leading to swelling of the optic nerve and rapidly progressing visual loss have had limited results with therapy such as corticosteroids, brimonidine, levodopa or surgery, such as optic nerve sheath decompression, in the past. (clinicaltrials.gov)
  • Clinical
  • My goals are aimed at developing a deeper understanding of inherited eye disease and ultimately utilising my position as a clinical ophthalmologist to drive the application of translational research in this area. (cardiff.ac.uk)
  • unilateral
  • Juxtapapillary subretinal pigment epithelial polypoid pseudocysts associated with unilateral tilted optic disc. (springer.com)
  • Jastrzembski B, Torun N. A 45-year-old man with unilateral optic disc edema and vision loss. (harvard.edu)
  • genetic
  • Coloboma of the optic nerve may occur sporadically , may be due to a genetic mutation and be inherited , or may occur as a feature of an underlying syndrome or other genetic condition. (nih.gov)
  • Examination
  • Structural examination of the optic disc (confocal microscopy) will be performed. (clinicaltrials.gov)
  • Diseases or conditions of the anterior segment that prevent the ability to adequately perform the physical examination including but not limited to trauma or lid malpositions. (clinicaltrials.gov)
  • OPA1
  • Following on from our work to characterise the disease phenotype and clone the disease gene, my group has analysed the spectrum of mutations in the OPA1 gene and genotype/ phenotype correlations. (cardiff.ac.uk)
  • Differentiation
  • We show that both Cdon −/− mutation and prenatal ethanol exposure independently cause ONH through a similar pathogenic mechanism that involves selective inhibition of Shh signaling in retinal progenitor cells, resulting in their premature cell-cycle arrest, precocious differentiation and failure to properly extend axons to the optic nerve. (biologists.org)
  • manifestations
  • We also concluded that there were subclinical manifestations of the disease that allowed us to follow chronic progression in non-affected carriers. (ifond.org)
  • occur
  • Although cause has not been determined, NAION is thought to occur following an idiopathic ischemic event involving the short posterior ciliary arteries that supply blood to the most anterior part of the optic nerve. (clinicaltrials.gov)
  • peripheral
  • We also made arrangements for specialized necropsy of eye, brain and peripheral nerve tissues for some members of the family that may die during the next few years. (ifond.org)
  • treatment
  • There is no treatment to correct an optic nerve coloboma, but low vision aids may be helpful for some people. (nih.gov)
  • Research helps us better understand diseases and can lead to advances in diagnosis and treatment. (nih.gov)
  • fiber layer
  • Roh S, Noecker RJ, Schumman J, Hedges TR III, Weiter JJ, Mattox C. Effect of optic nerve head drusen on nerve fiber layer thickness. (springer.com)
  • Ocakoglu O, Ustundag C, Koyluoglu N, Oguz V, Kendiroglu G, Ozkan S. Long term follow-up of retinal nerve fiber layer thickness in eyes with optic nerve head drusen. (springer.com)
  • We also noted retinal nerve fiber layer swelling that could be documented photographically or by GDx and that reflected itself in subtle visual field changes. (ifond.org)
  • mutations
  • For example, when an optic nerve coloboma occurs as part of renal coloboma syndrome , it is caused by mutations in the PAX2 gene. (nih.gov)