• optical coherence
  • A correct diagnosis of the early-onset childhood retinal dystrophies requires careful clinical evaluation, the detection of suggestive or pathognomonic ophthalmoscopic clues, the use of electrophysiology to document characteristic electroretinographic findings and, in some cases, the utilisation of newer diagnostic modalities such as optical coherence tomography. (bmj.com)
  • All participants underwent ophthalmological examination including kinetic perimetry, and in selected cases adaptometry, colour vision tests and optical coherence tomography (OCT). Electrophysiological studies were also performed. (diva-portal.org)
  • Best-corrected visual acuity (BCVA), funduscopic appearance, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), and electro-oculography (EOG) were assessed in 23 consecutive subjects from nine unrelated families with known mutations in the BEST1 gene (eight distinct BEST1 mutations). (arvojournals.org)
  • Protein
  • This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. (genecards.org)
  • NBAS (Neuroblastoma Amplified Sequence) is a Protein Coding gene. (genecards.org)
  • The PRPH2 gene (also known as RDS ) provides instructions for making a protein called peripherin 2. (nih.gov)
  • Retinal RNA and protein extracts derived from different species were assessed by Northern hybridization and immunoblot techniques to assess evolutionary conservation of gene expression. (arvojournals.org)
  • The VMD2 gene provides instructions for making a protein called bestrophin. (wikipedia.org)
  • Bestrophin-1 (Best1) is a protein that, in humans, is encoded by the BEST1 gene (RPD ID - 5T5N/4RDQ). (wikipedia.org)
  • The ALMS1 gene encodes instructions for making a protein with an unknown function. (wikipedia.org)
  • The ALMS1 gene contains instructions to encode a specific protein known as ALMS1. (wikipedia.org)
  • In addition to this sensory role mediating specific signaling cues, cilia play "a secretory role in which a soluble protein is released to have an effect downstream of the fluid flow" in epithelial cells, and can of course mediate fluid flow directly in the case of motile cilia. (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)
  • 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)
  • genetic
  • Genetic analysis revealed 62 CAG repeats in one allele of the DRPLA gene and he was diagnosed with DRPLA. (biomedcentral.com)
  • Only about 60% of the cases can be explained by the known disease-associated genes, implicating that additional genetic causes are to be discovered. (uni-oldenburg.de)
  • Nevertheless, genetic heterogeneity and clinical variability are obstacles for the identification of disease-associated genes. (uni-oldenburg.de)
  • 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)
  • 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)
  • It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and over 501 known cases in 47 countries. (wikipedia.org)
  • This genetic disorder is caused by a mutation of the ALMS1 gene. (wikipedia.org)
  • Accurate determination through confirmed diagnosis of the genetic mutation that has occurred also offers potential approaches beyond gene replacement for a specific group, namely in the case of diagnosis of a so-called nonsense mutation, a mutation where a stop codon is produced by the changing of a single base in the DNA sequence. (wikipedia.org)
  • RP is seen clinically in association with several other rare genetic disorders (including muscular dystrophy and chronic granulomatous disease) as part of McLeod syndrome. (wikipedia.org)
  • Proteins
  • Immunohistochemical analysis of tissue sections prepared from various mammalian retinas was performed to determine the distribution of ELOVL4 and homologous proteins within specific retinal cell layers. (arvojournals.org)
  • The bestrophin family of proteins comprises four evolutionary related genes (BEST1, BEST2, BEST3, and BEST4) that code for integral membrane proteins. (wikipedia.org)
  • The gene products encoded by these BBS genes, called BBS proteins, are located in the basal body and cilia of the cell. (wikipedia.org)
  • Among these, 13 genes encode proteins of the electron transport chain (abbreviated "ETC"), 22 encode transfer RNA (tRNA), and two encode the large and small subunits that form ribosomal RNA (rRNA). (wikipedia.org)
  • genetically
  • The FDA recently approved the first so-called gene therapy product, which uses genetically modified cells from the immune system to treat a form of leukemia. (ksmu.org)
  • in 2004, led to the discovery of five additional cases displayed across genetically unconnected families from varying ethnicities, leading to the proposal of the term "Jalili syndrome" by Parry et al. (wikipedia.org)
  • multiple genes
  • Systems biologists are endeavoring to define functional modules containing multiple genes and then look at disorders whose phenotypes fit into such modules. (wikipedia.org)
  • cone
  • Genetics Home Reference provides information about cone-rod dystrophy. (nih.gov)
  • Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene. (nih.gov)
  • In 2003, he was told he had cone rod dystrophy, a retinal condition caused by many different gene mutations, but he did not know which gene was affected in his case. (uiowa.edu)
  • 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)
  • 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)
  • disorders
  • Researchers are also testing gene therapy for other causes of blindness and blood disorders such as sickle cell disease. (ksmu.org)
  • Mutations in the PRPH2 gene cause a variety of other retinal disorders. (nih.gov)
  • 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)
  • onset
  • In most cases, the cause of the adult-onset form is unknown. (wikipedia.org)
  • Some of the symptoms include: Heart failure (Dilated cardiomyopathy) in over 60% of cases, usually within the first few weeks after birth, but sometimes the onset is in adolescence or adulthood. (wikipedia.org)
  • 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)
  • defective gene
  • The availability of these tools has allowed a precise gene editing, such as knockout of a specific gene or the correction of a defective gene by means of homologous recombination (HR), taking advantage of the endogenous cell repair machinery. (intechopen.com)
  • It is still considered to be unknown on how the defective gene causes the disorder. (wikipedia.org)
  • symptoms
  • Although other signs and symptoms vary widely from individual to individual, they generally fall under the hallmark of cerebellum involvement or in this case, lack thereof. (wikipedia.org)
  • This means both parents have to pass a copy of the ALMS1 gene in order for their child to have the syndrome even though the parents may not show signs or symptoms of the condition. (wikipedia.org)
  • syndrome
  • The likelihood of two carrier parents both passing the gene and therefore having a child affected by the syndrome is 25% with each pregnancy. (wikipedia.org)
  • Mutations in the CDH3 gene can also appear in EEM syndrome. (wikipedia.org)
  • The Jalili syndrome is caused by different mutations all with a linkage at the achromatopsia locus 2q11 on the metal transporter gene, CNNM4. (wikipedia.org)
  • Sequence analysis of this gene within Jalili syndrome sufferers has identified homozygosity or compound heterozygosity for several different mutations in the CNNM4 gene. (wikipedia.org)
  • Kearns-Sayre syndrome occurs spontaneously in the majority of cases. (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)