• Anomalies
  • To prevent ocular anomalies, we are to investigate the role of programmed cell death and growth factors in the developmental process of the normal and malformed eye. (nii.ac.jp)
  • syndrome
  • 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)
  • 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)
  • Eye abnormalities have been shown to occur in over 90% of children with fetal alcohol syndrome. (wikipedia.org)
  • Cat eye syndrome, caused by the short arm (p) and a small section of the long arm (q) of human chromosome 22 being present three (trisomic) or four times (tetrasomic) instead of the usual two times. (wikipedia.org)
  • Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging. (wikipedia.org)
  • It is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17 and is sometimes called the 17p- syndrome. (wikipedia.org)
  • Facial features of children with Smith-Magenis syndrome include a broad face, deep-set eyes, large cheeks, and a prominent jaw, as well as a flat nose bridge. (wikipedia.org)
  • Roughly 45% of people with Parry-Romberg syndrome are also afflicted with trigeminal neuralgia (severe pain in the tissues supplied by the ipsilateral trigeminal nerve, including the forehead, eye, cheek, nose, mouth and jaw) and/or migraine (severe headaches that may be accompanied by visual abnormalities, nausea and vomiting). (wikipedia.org)
  • Enophthalmos (recession of the eyeball within the orbit) is the most common eye abnormality observed in Parry-Romberg syndrome. (wikipedia.org)
  • Alport syndrome can also affect the eyes, though the changes do not usually affect sight, except when changes to the lens occur in later life. (wikipedia.org)
  • Since type IV collagen is found in the ears, eyes, and kidneys, this explains why Alport syndrome affects different seemingly unrelated parts of the body (ears, eyes, kidneys, etc. (wikipedia.org)
  • In neuroacanthocytosis, acanthocytes are caused by protein but not lipid membrane abnormalities The 'core' neuroacanthocytosis syndromes are chorea acanthocytosis and McLeod syndrome. (wikipedia.org)
  • facial
  • Hemangioma, the abnormal buildup of blood vessels, will possibly develop around the facial area at birth and the eyes may be set widely apart, a condition known as orbital hypertelorism. (wikipedia.org)
  • ears
  • Compared to wolves, many adult dog breeds retain such juvenile characteristics as soft fuzzy fur, round torsos, large heads and eyes, ears that hang down rather than stand erect, etc. (wikipedia.org)
  • Occurrence in an individual results in various abnormalities to the face, limbs, ears, nose, vessels and many other underdevelopments. (wikipedia.org)
  • neck
  • The process may eventually extend to involve tissues between the nose and the upper corner of the lip, the upper jaw, the angle of the mouth, the area around the eye and brow, the ear, and/or the neck. (wikipedia.org)
  • corneal
  • The investigators examined the outcomes, complication rates, influence of age at surgery on pattern of axial growth and central corneal thickness and visual and orthoptic assessment in these eyes. (clinicaltrials.gov)
  • These authors listed corneal clouding, camptodactyly with hypoplastic nails, and abnormalities of the diaphragm as cardinal features. (wikipedia.org)
  • bilateral
  • Since only a few studies have reported outcomes, and that too only short term of cataract surgery on microphthalmic eyes, in this prospective observational study we evaluated the long-term impact of bilateral cataract surgery on eyes with microphthalmos. (clinicaltrials.gov)
  • brain
  • Half of these cases are associated with abnormalities in both the gray and white matter of the brain-usually ipsilateral but sometimes contralateral-that are detectable on magnetic resonance imaging (MRI) scan. (wikipedia.org)
  • disease
  • 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)
  • mice
  • We also found the delay in changes of main glycosaminoglycans in the eyelids of spontaneous small eye mice. (nii.ac.jp)
  • exposure
  • 50% of affected individuals develop dental abnormalities such as delayed eruption, dental root exposure, or resorption of the dental roots on the affected side. (wikipedia.org)
  • exam
  • So my professor recommended having a complete, intense eye exam with the director of the clinic here at the college to rule anything major out. (blogspot.com)
  • They will also have a full eye exam. (clinicaltrials.gov)
  • undergo
  • Participants will undergo a complete age-appropriate baseline eye examination and physical examination and provide a blood or buccal cell sample. (clinicaltrials.gov)