• Eye movement abnormalities in familial mental retardation syndrome should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gaucher's disease, abetalipoproteinemia and Wilson's disease. (le.ac.uk)
  • In Gaucher's disease a progressive horizontal gaze palsy, in abetalipoproteinemia a particular type of internuclear ophthalmoplegia with nystagmus of the adducting eye and in Wilson's disease slowing of saccades may be observed. (le.ac.uk)
  • The characteristics of eye movements in storage disorders are different. (le.ac.uk)
  • PAX2- related disorder is an autosomal dominant disorder associated with renal and eye abnormalities. (nih.gov)
  • The diagnosis of PAX2 -related disorder is established in a proband with the characteristic renal and/or eye findings by the identification of a heterozygous pathogenic variant in PAX2 by molecular genetic testing . (nih.gov)
  • Renal coloboma syndrome (or papillorenal syndrome) was the name given to an autosomal dominant condition associated with renal hypodysplasia and abnormalities of the optic nerve and a heterozygous pathogenic variant in PAX2 . (nih.gov)
  • The eye conditions to be studied include Axenfeld's syndrome, Rieger's anomaly, Peter's anomaly, (all with or without glaucoma), Iridocorneal Endothelial syndrome, Aniridia, Pigment Dispersion syndrome, Megalocornea and other conditions with clinical abnormalities of the anterior chamber. (clinicaltrials.gov)
  • The purpose of this study is to determine the sensitivity and specificity of an aid in assessment of concussion based on eye-tracking, in comparison to a clinical reference standard appropriate for the Emergency Department (ED) or concussion clinic. (clinicaltrials.gov)
  • Ophthalmologic abnormalities are typically described as optic nerve coloboma or dysplasia. (nih.gov)
  • A coloboma (from the Greek koloboma, meaning defect) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. (wikipedia.org)
  • The iris of the eye changing color can be a sign that the cells in the eye are being damaged. (theunknownbutnothidden.com)
  • Tests and procedures may include photographs of the cornea, iris, and the structure through which fluid that normally circulates behind the cornea drains out of the eye. (clinicaltrials.gov)
  • The letters stand for: coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness. (wikipedia.org)
  • Psychiatric and behavioral abnormalities can include autism spectrum disorders, attention deficit hyperactivity disorder, autistic features, and sleep disturbances. (nih.gov)
  • Stickler's Syndrome is a disorder affecting collagen, characterized by distinctive facial abnormalities, eye problems, hearing loss and joint problems. (dmoztools.net)
  • Other tests may include photographs of the back of the eye and ultrasound imaging of the structures of the eye. (clinicaltrials.gov)
  • Abnormal renal structure or function is noted in 92% of affected individuals and ophthalmologic abnormalities in 77% of affected individuals. (nih.gov)
  • In Gaucher's disease a progressive horizontal gaze palsy, in abetalipoproteinemia a particular type of internuclear ophthalmoplegia with nystagmus of the adducting eye and in Wilson's disease slowing of saccades may be observed. (le.ac.uk)
  • It may result in double vision, darkened vision, or complete loss of sight in one or both eyes. (theunknownbutnothidden.com)
  • The PD impairment was not caused by a loss of information on target location since their final eye position was close to the target at all eccentricities. (lancs.ac.uk)
  • My right eye adds a red-ish tint to everything, while everything out of my left eye looks more blue-ish. (blogspot.com)
  • I took some intense color vision tests, one eye at a time, to see if there was a measurable difference between the two, and there was. (blogspot.com)
  • You may not notice any changes in vision at first, but the eye will look different. (theunknownbutnothidden.com)
  • See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light. (icdlist.com)
  • Ophthalmologic abnormalities may significantly impair vision in some individuals, while others have subtle changes only noted after detailed ophthalmologic examination. (nih.gov)
  • It is pertinent that subjects be able to detect light and have both eyes in order for the eye tracking data to be effective and significant. (clinicaltrials.gov)
  • People dealing with hyperthyroidism often have eyes that seem to bulge out of the eye socket. (theunknownbutnothidden.com)
  • Preliminary evidence suggests that the eyes of people with SAD are less sensitive to light and never fully adjust to dim winter days as normal eyes do. (healthcentral.com)
  • observed neurodegeneration in flies expressing Drosophila orthologs of human LRRK2 Y1699C or I2020T mutants, although the degeneration in this case was confined to certain DA neuronal clusters and does not affect the eye. (jneurosci.org)