Neuropathy, ataxia, and retinitis pigmentosaCytomegalovirus retinitisRhodopsin: Rhodopsin (also known as visual purple) is a light-sensitive receptor protein. It is named after ancient Greek ῥόδον (rhódon) for “rose”, due to its pinkish color, and ὄψις (ópsis) for “sight”.Iridogoniodysgenesis, dominant type: Iridogoniodysgenesis, dominant type (type 1, IRID1) refers to a spectrum of diseases characterized by malformations of the irido-corneal angle of the anterior chamber of the eye. Iridogoniodysgenesis is the result of abnormal migration or terminal induction of neural crest cells.Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.OpsismodysplasiaRetinal regeneration: Retinal regeneration deals with restoring retinal function to vertebrates so impaired.LogMAR chart: A LogMAR chart comprises rows of letters and is used by ophthalmologists and vision scientists to estimate visual acuity. This chart was developed at the National Vision Research Institute of Australia in 1976, and is designed to enable a more accurate estimate of acuity as compared to other charts (e.Rod cellMeridian (perimetry, visual field): Meridian (plural: "meridians") is used in perimetry and in specifying visual fields. According to IPS Perimetry Standards 1978 (2002): "Perimetry is the measurement of [an observer's] visual functions ...UsherSilent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.X-linked congenital stationary night blindnessGenetic linkage: Genetic linkage is the tendency of alleles that are located close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Genes whose loci are nearer to each other are less likely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be genetically linked.Melanopsin: Melanopsin is a type of photopigment belonging to a larger family of light-sensitive retinal proteins called opsins and encoded by the gene Opn4. Two other opsins in the mammalian retina are both involved in the formation of visual images: rhodopsin and photopsin in the rod and cone photoreceptor cells, respectively.Blind People's Association: The Blind People’s Association (BPA) is an organisation in India which promotes comprehensive rehabilitation of persons with all categories of disabilities through education, training, employment, community based rehabilitation, integrated education, research, publications, human resource development and other innovative means.Cousin couple: A cousin couple is a pair of cousins who are involved in a romantic or sexual relationship.Plaque-forming unit: In virology, a plaque-forming unit (PFU) is a measure of the number of particles capable of forming plaques per unit volume, such as virus particles. It is a functional measurement rather than a measurement of the absolute quantity of particles: viral particles that are defective or which fail to infect their target cell will not produce a plaque and thus will not be counted.Smith–Fineman–Myers syndrome: Smith–Fineman–Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies syndrome 1 (MRXHF1), Carpenter–Waziri syndrome, Chudley–Lowry syndrome, SFMS, Holmes–Gang syndrome and Juberg–Marsidi syndrome (JMS), is a rare X-linked recessive congenital disorder that causes birth defects. This syndrome was named after 3 men, Richard D.Alternative splicing: Alternative splicing is a regulated process during gene expression that results in a single gene coding for multiple proteins. In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene.Missense mutation: In genetics, a missense mutation (a type of nonsynonymous substitution) is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Another type of nonsynonymous substitution is a nonsense mutation in which a codon is changed to a premature stop codon that results in truncation of the resulting protein.Coherence theory: In physics, coherence theory is the study of optical effects arising from partially coherent light and radio sources. Partially coherent sources are sources where the coherence time or coherence length are limited by bandwidth, by thermal noise, or by other effect.IMP dehydrogenaseColes PhillipsPurtscher's retinopathy: Purtscher's retinopathy is a disease where part of the eye (retina) is damaged. Usually associated with severe head injuries, it may also occur with other types of trauma, such as long bone fractures, or with several non-traumatic systemic diseases.TSPAN12: Tetraspanin-12 (Tspan-12) also known as tetraspan NET-2 (NET2) or transmembrane 4 superfamily member 12 (TM4SF12) is a tetraspanin protein that in humans is encoded by the TSPAN12 gene. Tetraspanin-12 is found in the membrane of a variety of cells.Macula of retina: The macula or macula lutea (from Latin macula, "spot" + lutea, "yellow") is an oval-shaped pigmented area near the center of the retina of the human eye. It has a diameter of around .Operation Eyesight Universal: Operation Eyesight Universal is a Canada-based international development organisation, founded in 1963. It works to prevent avoidable blindness and to cure blindness that is treatable.Single-strand conformation polymorphism: Single-strand conformation polymorphism (SSCP), or single-strand chain polymorphism, is defined as conformational difference of single-stranded nucleotide sequences of identical length as induced by differences in the sequences under certain experimental conditions. This property allows sequences to be distinguished by means of gel electrophoresis, which separates fragments according to their different conformations.Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Chromosome regionsPercolation threshold: Percolation threshold is a mathematical concept related to percolation theory, which is the formation of long-range connectivity in random systems. Below the threshold a giant connected component does not exist; while above it, there exists a giant component of the order of system size.OpsinFrameshift mutation: A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original.Gross pathology: Gross pathology refers to macroscopic manifestations of disease in organs, tissues, and body cavities. The term is commonly used by anatomical pathologists to refer to diagnostically useful findings made during the gross examination portion of surgical specimen processing or an autopsy.Fragile X-associated tremor/ataxia syndrome: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder associated with problems of movement, memory, and the autonomic nervous system. It is related to the disease fragile X syndrome, although FXTAS is a clinically distinct syndrome.PhospheneProtein primary structure: The primary structure of a peptide or protein is the linear sequence of its amino acid structural units, and partly comprises its overall biomolecular structure. By convention, the primary structure of a protein is reported starting from the amino-terminal (N) end to the carboxyl-terminal (C) end.Symmetry element: A symmetry element is a point of reference about which symmetry operations can take place. In particular, symmetry elements can be centers of inversion, axes of rotation and mirror planes.Nonsense mutation: In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product. It differs from a missense mutation, which is a point mutation where a single nucleotide is changed to cause substitution of a different amino acid.Landolt CArthur Biedl: Arthur Biedl (4 October 1869 – 26 August 1933) was an Hungarian pathologist born in what today is Comloşu Mic, Romania.Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).DNA sequencer: A DNA sequencer is a scientific instrument used to automate the DNA sequencing process. Given a sample of DNA, a DNA sequencer is used to determine the order of the four bases: G (guanine), C (cytosine), A (adenine) and T (thymine).Scanning laser ophthalmoscopyMetachronal rhythm: A metachronal rhythm or metachronal wave refers to wavy movements produced by the sequential action (as opposed to synchronized) of structures such as cilia, segments of worms or legs. These movements produce the appearance of a travelling wave.Thermal cyclerLow vision assessment: Low vision is both a subspeciality and a condition. Optometrists and Ophthalmologists after their training may undergo further training in Low vision assessment and management.Point mutationPhotovoltaic retinal prosthesis: Photovoltaic retinal prosthesis is a technology for restoring sight to blind patients suffering from degenerative retinal diseases. In retinal degenerative diseases such as Retinitis Pigmentosa and Age-Related Macular Degeneration, patients loss ‘image capturing’ photo-receptors, but, neurons in the ‘image-processing’ inner retinal layers are relatively well preserved.Grow lightElectrooculographyHagemoser–Weinstein–Bresnick syndrome: Hagemoser–Weinstein–Bresnick syndrome is an autosomal dominant genetic disorder first described by Hagemoser et al. in 1989.Retina bipolar cell: As a part of the retina, the bipolar cell exists between photoreceptors (rod cells and cone cells) and ganglion cells. They act, directly or indirectly, to transmit signals from the photoreceptors to the ganglion cells.Ron Gallemore: Ron P. Gallemore is a registered ophthalmologist with the American Academy of OphthalmologyThe American Academy of Ophthalmology Dr Ron Gallemore certification involved in research and treatment of diseases of the macula and retina.Genetic heterogeneity: Genetic heterogeneity is a phenomenon in which a single phenotype or genetic disorder may be caused by any one of a multiple number of alleles or non-allele (locus) mutations.Turnpenny and Ellard, Emery's Elements of Medical Genetics, 13th Edition.Self-complementary adeno-associated virus (scAAV): Self-complementary adeno-associated virus (scAAV) is a viral vector engineered from the naturally occurring adeno-associated virus (AAV) to be used as a tool for gene therapy. Use of recombinant AAV (rAAV) has been successful in clinical trials addressing a variety of diseases.
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