• retina
  • Specifically, the BEST1 gene on chromosome 11q13 encodes the Bestrophin-1 protein in humans whose expression is highest in the retina. (wikipedia.org)
  • Vitelline macular dystrophy (also known as Best disease) is a progressive, chronic disease of the macula (central retina) at the back of the eye. (els.net)
  • Macular dystrophy is a rare, genetic condition of the eye, wherein the macula, which is the central part of the retina, is damaged due to successive buildup of eye pigments within the epithelial cells of the retina. (els.net)
  • The ABCA4 gene transcribes a large retina-specific protein with two transmembrane domains (TMD), two glycosylated extracellular domains (ECD), and two nucleotide-binding domains (NBD). (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)
  • The delicate operation required passing a needle through the eye, to lift the retina and insert the new gene-copy in the pigment layer. (wikipedia.org)
  • protein
  • PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae), also known as PRPF31, is a protein which in humans is encoded by the PRPF31 gene. (wikipedia.org)
  • PRPH2 gene codes for a protein called peripherin. (els.net)
  • CNGB3 (Cyclic Nucleotide Gated Channel Beta 3) is a Protein Coding gene. (genecards.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)
  • ATP-binding cassette, sub-family A (ABC1), member 4, also known as ABCA4 or ABCR, is a protein which in humans is encoded by the ABCA4 gene. (wikipedia.org)
  • Cyclic nucleotide gated channel beta 3, also known as CNGB3, is a human gene encoding an ion channel protein. (wikipedia.org)
  • Generally, efforts focused on administering a gene that causes a needed protein to be expressed. (wikipedia.org)
  • cone
  • To investigate detailed phenotype characteristics and disease mechanism in patients with cone dystrophy with supernormal rod response (CDSRR) with known alterations of the KCNV2 gene locus. (arvojournals.org)
  • To identify the causative gene-defects in patients with autosomal recessive cone-rod dystrophy (arCRD). (arvojournals.org)
  • 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)
  • It appears that the dystrophy is primary, since subjective and objective abnormalities of cone function are found before ophthalmoscopic changes can be seen. (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)
  • 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)
  • Since cone dystrophy is hereditary and can be asymptomatic early on in the disease process, ERG is an invaluable tool in the early diagnosis of patients with positive family histories. (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)
  • RPE65
  • A faulty gene in the pigment layer, RPE65, prevented his photoreceptor cells from working, so a valid copy of the gene was implanted in one eye to 'patch' the blind-spot and restore function. (wikipedia.org)
  • onset
  • Glen of Imaal Terrier - CRD3 results in gradual blindness with onset around 4 years of age (often detectable as retinal thinning as early as 3 years of age). (wikipedia.org)
  • blindness
  • Males are more likely to be color blind than females, as the genes responsible for the most common forms of color blindness are on the X chromosome. (wikipedia.org)
  • cyclic
  • It is caused by a defect in the gene for cGMP-phosphodiesterase, which leads to retinal levels of cyclic guanosine monophosphate ten times normal. (wikipedia.org)
  • lesions
  • Girls born with the syndrome have structural brain abnormalities and retinal lesions, and are at risk of seizures. (brighthub.com)
  • Best's
  • 2002) Optical coherence tomography in choroidal neovascular membrane associated with Best's vitelliform dystrophy. (els.net)
  • Blodi CF and Stone EM (1990) Best's vitelliform dystrophy. (els.net)
  • disease
  • Most recently, the disease-causing gene at this locus has been identified as the EYS gene. (beds.ac.uk)
  • It occurs either as a hereditary disease or as an acquired condition (70% of these patients are hyperopic). (thefreedictionary.com)
  • Homozygosity mapping was performed with high-density SNP microarrays to identify new disease-causing genes and mutations. (arvojournals.org)
  • As other retinal disorders, PRA can be divided into either dysplastic disease, where the cells develop abnormally, and degenerative, where the cells develop normally but then degenerate during the dog's lifetime. (wikipedia.org)
  • Congenital anomalies of the kidney and urinary tract (CAKUT) occur in 1 in 500 births, account for the most cases of pediatric end-stage kidney disease (ESKD), and predispose an individual to hypertension and cardiovascular disease throughout life. (clinicaladvisor.com)
  • The rod photoreceptor cells, which are responsible for low-light vision and are orientated in the retinal periphery, are the retinal processes affected first during non-syndromic forms of this disease. (wikipedia.org)
  • citation needed] Since abnormalities of cilia are known to be related to a wide range of disease symptoms including those commonly seen in BBS patients, it is now widely accepted that mutated BBS genes affect normal cilia function, which, in turns, causes BBS. (wikipedia.org)
  • Gene therapy is the therapeutic delivery of nucleic acid into a patient's cells as a drug to treat disease. (wikipedia.org)
  • In 2011 Neovasculgen was registered in Russia as the first-in-class gene-therapy drug for treatment of peripheral artery disease, including critical limb ischemia. (wikipedia.org)
  • cones
  • Rod monochromacy (achromatopsia) is an exceedingly rare, nonprogressive inability to distinguish any colors as a result of absent or nonfunctioning retinal cones. (wikipedia.org)
  • bestrophin
  • The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. (wikipedia.org)
  • Each of the four bestrophin genes has a unique 3-prime end of variable length. (wikipedia.org)
  • ABCA4
  • ABCA4 is a member of the ATP-binding cassette transporter gene sub-family A (ABC1) found exclusively in multicellular eukaryotes. (wikipedia.org)
  • In the case of ABCA4, the flippase facilitates transfer of N-retinyl-phosphatidylethanolamine (NR-PE), a covalent adduct of all-trans retinaldehyde (ATR) with phosphatidylethanolamine (PE), trapped inside the disk as charged species out to the cytoplasmic surface. (wikipedia.org)
  • CRISPR
  • A number of studies are looking at gene therapy, exon skipping and CRISPR interference to offer hope for the future. (wikipedia.org)
  • patients
  • Most interestingly, b/a-ratios were significantly higher in all of the cases (mean 2.55, range 1.9 to 3.49), even though the b-wave amplitude was within normal ranges in some patients. (arvojournals.org)
  • Cline claimed that one of the genes in his patients was active six months later, though he never published this data or had it verified and even if he is correct, it's unlikely it produced any significant beneficial effects treating beta-thalassemia. (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)