Berk–Tabatznik syndrome: Berk–Tabatznik syndrome is a condition with an unknown cause that shows symptoms of short stature, congenital optic atrophy and brachytelephalangy. This condition is extremely rare with only two cases being found.Poul Kjer: Paul Kjer, Danish ophthalmologist, studied a condition in nineteen families that was characterized by infantile optic atrophy along with a dominant inheritance mode. In 1959, the condition was named Kjer's optic neuropathy in his honor.Hagemoser–Weinstein–Bresnick syndrome: Hagemoser–Weinstein–Bresnick syndrome is an autosomal dominant genetic disorder first described by Hagemoser et al. in 1989.Testicular atrophy: Testicular atrophy is a medical condition in which the male reproductive organs (the testes, which in humans are located in the scrotum) diminish in size and may be accompanied by loss of function. This does not refer to temporary changes, such as those brought on by cold.Optic nerve tumor: An optic nerve melanocytoma is a tumor made up of melanocytes and melanin. These tumors are typically a benign; they can grow, but rarely transform into a malignancy.Wolfram syndromeOptic disc: The optic disc or optic nerve head is the point of exit for ganglion cell axons leaving the eye. BecauseOptic neuritisHereditary motor and sensory neuropathy: Hereditary motor and sensory neuropathies (HMSN) are a group of neuropathies which are characterized by their impact upon both afferent and efferent neural communication. HMSN are characterized by non typical neural development, and degradation of neural tissue.Sensory decussation: The sensory decussation or decussation of the lemniscus is a decussation or crossover of axons from the gracile nucleus and cuneate nucleus, which are responsible for fine touch, proprioception and two-point discrimination of the body. The fibres of this decussation are called the internal arcuate fibres and are found at the superior aspect of the closed medulla superior to the motor decussation.PapilledemaPedigree 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.Congenital distal spinal muscular atrophy: Congenital distal spinal muscular atrophy (congenital dSMA) is a hereditary genetic condition characterized by muscle wasting (atrophy), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle. Affected individuals often have shorter lower limbs relative to the trunk and upper limbs.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.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.Haplogroup L0 (mtDNA)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.Neuro-ophthalmology: Neuro-ophthalmology is an academically-oriented subspecialty that merges the fields of neurology and ophthalmology, often dealing with complex systemic diseases that have manifestations in the visual system. Neuro-ophthalmologists initially complete a residency in either neurology or ophthalmology, then do a fellowship in the complementary field.Retinal regeneration: Retinal regeneration deals with restoring retinal function to vertebrates so impaired.Optic neuropathyGregor Wenning: Gregor K. Wenning (* born 21st March1964 in Horstmar, Westfalia) is a German Neurologist best known for his clinical and scientific work in Parkinson's disease and atypical Parkinsonian disorders, particularly multiple system atrophy (MSA).Reflected-wave switching: Reflected-wave switching is a signalling technique used in backplane computer buses such as PCI.OpsismodysplasiaMitochondrial diseaseDiabetes insipidusMitochondrial fission: Although commonly depicted as bean-like structures mitochondria form a highly dynamic network within most cells where they constantly undergo fission and fusion. Mitochondria can divide by prokaryotic binary fission and since they require mitochondrial DNA for their function, fission is coordinated with DNA replication.Dyssynergia: Dyssynergia is any disturbance of smooth muscular coordination, resulting in uncoordinated and abrupt movements. It is typical for dyssynergic patients to split a movement into several smaller movements.Low 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.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).Spinal muscular atrophiesAvo PhotonicsSilent 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.Microcephaly lymphoedema chorioretinal dysplasia: Microcephaly lymphoedema chorioretinal dysplasia (MLCRD) is a genetic condition associated with:Meridian (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 ...Nerve fiber layer: The retinal nerve fiber layer (nerve fiber layer, stratum opticum, RNFL) is formed by the expansion of the fibers of the optic nerve; it is thickest near the porus opticus, gradually diminishing toward the ora serrata.Autosomal recessive cerebellar ataxia: Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement. Signs and symptoms of the disorder first appear in early to mid-adulthood.Gene therapy for color blindness: Gene therapy for color blindness is an experimental gene therapy aiming to convert congenitally colorblind individuals to trichromats by introducing a photopigment gene that they lack. Though partial color blindness is considered only a mild disability and is controversial whether it is even a disorder, it is a condition that affects many people, particularly males.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.Mitochondrion: The mitochondrion (plural mitochondria) is a double membrane-bound organelle found in most eukaryotic cells. The word mitochondrion comes from the Greek , , i.HyperintensityNonsense 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.Parkinson plus syndrome: Parkinson-plus syndromes, also known as disorders of multiple system degeneration, is a group of neurodegenerative diseases featuring the classical features of Parkinson's disease (tremor, rigidity, akinesia/bradykinesia, postural instability) with additional features that distinguish them from simple idiopathic Parkinson's disease. Some consider Alzheimer's disease to be in this group.Cousin couple: A cousin couple is a pair of cousins who are involved in a romantic or sexual relationship.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.NADH dehydrogenase: NADH dehydrogenase (, cytochrome c reductase, type 1 dehydrogenase, beta-NADH dehydrogenase dinucleotide, diaphorase, dihydrocodehydrogenase I dehydrogenase, dihydronicotinamide adenine dinucleotide dehydrogenase, diphosphopyridine diaphorase, DPNH diaphorase, NADH diaphorase, NADH hydrogenase, NADH oxidoreductase, NADH-menadione oxidoreductase, reduced diphosphopyridine nucleotide diaphorase) is an enzyme with systematic name NADH:acceptor oxidoreductase. This enzyme catalyses the following chemical reactionEvan LeighPlaque-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.Prelingual deafness: A prelingual deaf individual is someone who was born with a hearing loss, or whose hearing loss occurred before they began to speak. Infants usually start saying their first words around one year.Purtscher'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.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.Crandall syndrome: Crandall syndrome is a very rare congenital disorder characterised by progressive sensorineural hearing loss, hair loss associated with pili torti, and hypogonadism demonstrated through low levels of luteinising hormone and growth hormone. It is thought to be an autosomal recessive disorder closely related to Björnstad syndrome which presents similarly but without hypogonadism.Genetic 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.Centre for Research in Neurodegenerative DiseasesHyperphosphatasia with mental retardation syndrome: Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.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.Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Membrane protein: Membrane proteins are proteins that interact with biological membranes. They are one of the common types of protein along with soluble globular proteins, fibrous proteins, and disordered proteins.Epicanthic fold: Epicanthic fold (), epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold..
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