• candidate gene
  • On 19 August 2010, a paper entitled A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy was published in Science showing that the candidate gene DUX4 undergoes a "toxic gain of function" as a result of single nucleotide polymorphisms in the region distal to the last D4Z4 repeat. (wikipedia.org)
  • pathogenic
  • Linkage and haplotype analyses were used to define the chromosomal location of the pathogenic gene in the Chinese arRP family. (beds.ac.uk)
  • subclinical
  • Non-muscular symptoms frequently associated with FSHD include subclinical sensorineural hearing loss and retinal telangiectasia. (wikipedia.org)
  • Genetic
  • How are genetic conditions and genes named? (nih.gov)
  • The second mechanism is a "toxic gain of function" of the DUX4 gene, which is the first time in genetic research that a "dead gene" has been found to "wake up" and cause disease. (wikipedia.org)
  • cone
  • Genetics Home Reference provides information about cone-rod dystrophy. (nih.gov)
  • A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. (wikipedia.org)
  • The most common symptoms of cone dystrophy are vision loss (age of onset ranging from the late teens to the sixties), sensitivity to bright lights, and poor color vision. (wikipedia.org)
  • The pathogenesis of cone dystrophy has yet to be elucidated. (wikipedia.org)
  • The fundus exam via ophthalmoscopy is essentially normal early on in cone dystrophy, and definite macular changes usually occur well after visual loss. (wikipedia.org)
  • Fluorescein angiography (FA) is a useful adjunct in the workup of someone suspected to have cone dystrophy, as it may detect early changes in the retina that are too subtle to be seen by ophthalmoscope. (wikipedia.org)
  • In another, less frequent form of cone dystrophy there is rather diffuse atrophy of the posterior pole with spotty pigment clumping in the macular area. (wikipedia.org)
  • As expected, visual field testing in cone dystrophy usually reveals a central scotoma. (wikipedia.org)
  • The relative sparing of rod function in cone dystrophy is evidenced by a normal scotopic ERG, i.e. when the test is carried out in the dark. (wikipedia.org)
  • Cone dystrophy in general usually occurs sporadically. (wikipedia.org)
  • Though there is no treatment for Cone dystrophy, certain supplements may help in delaying the progression of the disease. (wikipedia.org)
  • Consuming omega-3 fatty acids (docosahexaenoic acid and eicosapentaenoic acid) has been correlated with a reduced progression of early AMD, and in conjunction with low glycemic index foods, with reduced progression of advanced AMD, and may therefore delay the progression of cone dystrophy. (wikipedia.org)
  • examination
  • The markedly anomalous hair growth should lead to a retinal examination by school entry at the latest, since weak vision will not necessarily be detected in the course of normal medical check-ups. (wikipedia.org)
  • protein
  • The PRPH2 gene (also known as RDS ) provides instructions for making a protein called peripherin 2. (nih.gov)
  • The VMD2 gene provides instructions for making a protein called bestrophin. (wikipedia.org)
  • It is caused by a combination of mutations (compound heterozygosity) in the CDH3 gene, which codes for Cadherin-3 (also known as P-Cadherin), a calcium-binding protein that is responsible for cellular adhesion in various tissues. (wikipedia.org)
  • studies
  • A number of studies are looking at gene therapy, exon skipping and CRISPR interference to offer hope for the future. (wikipedia.org)