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Colobomas
A coloboma (from the Greek , meaning "defect") is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born. Ocular coloboma is relatively uncommon, affecting less than one in every 10,000 births. The classical description in medical literature is of a keyhole-shaped defect. A coloboma can occur in one eye (unilateral) or both eyes (bilateral). Most cases of coloboma affect only the iris. The level of vision impairment of those with a coloboma can range from having no vision problems to being able to see only light or dark, depending on the position and extent of the coloboma (or colobomata if more than one is present). Signs and symptoms Visual effects may be mild to more severe depending on the size and location of the coloboma. If, for exam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coloboma
A coloboma (from the Greek , meaning "defect") is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born. Ocular coloboma is relatively uncommon, affecting less than one in every 10,000 births. The classical description in medical literature is of a keyhole-shaped defect. A coloboma can occur in one eye (unilateral) or both eyes (bilateral). Most cases of coloboma affect only the iris. The level of vision impairment of those with a coloboma can range from having no vision problems to being able to see only light or dark, depending on the position and extent of the coloboma (or colobomata if more than one is present). Signs and symptoms Visual effects may be mild to more severe depending on the size and location of the coloboma. If, for ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cat Eye Syndrome
Cat-eye syndrome (CES) or Schmid–Fraccaro syndrome is a rare condition caused by an abnormal extra chromosome, i.e. a small supernumerary marker chromosome. This chromosome consists of the entire short arm and a small section of the long arm of chromosome 22. In consequence, individuals with the cat-eye syndrome have three ( trisomic) or four ( tetrasomic) copies of the genetic material contained in the abnormal chromosome instead of the normal two copies. The prognosis for patients with CES varies depending on the severity of the condition and their associated signs and symptoms, especially when heart or kidney abnormalities are seen. Signs and symptoms * Unilateral or bilateral iris coloboma (absence of tissue from the colored part of the eyes) * Preauricular pits/tags (small depressions/growths of skin on the outer ears) * Anal atresia (abnormal obstruction of the anus) * Downward-slanting palpebral fissures (openings between the upper and lower eyelids) * Cleft palate * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ophthalmology
Ophthalmology (, ) is the branch of medicine that deals with the diagnosis, treatment, and surgery of eye diseases and disorders. An ophthalmologist is a physician who undergoes subspecialty training in medical and surgical eye care. Following a medical degree, a doctor specialising in ophthalmology must pursue additional postgraduate residency training specific to that field. In the United States, following graduation from medical school, one must complete a four-year residency in ophthalmology to become an ophthalmologist. Following residency, additional specialty training (or fellowship) may be sought in a particular aspect of eye pathology. Ophthalmologists prescribe medications to treat ailments, such as eye diseases, implement laser therapy, and perform surgery when needed. Ophthalmologists provide both primary and specialty eye care—medical and surgical. Most ophthalmologists participate in academic research on eye diseases at some point in their training and many inc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CHARGE Syndrome
CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, restricted growth or development, genital or urinary abnormalities, and ear abnormalities and deafness. These features are no longer used in making a diagnosis of CHARGE syndrome, but the name remains. About two thirds of cases are due to a CHD7 mutation. CHARGE syndrome occurs only in 0.1–1.2 per 10,000 live births; as of 2009, it was the leading cause of congenital deafblindness in the US. Genetics CHARGE syndrome was formerly referred to as CHARGE association, which indicates a non-random pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance, but for which a common cause has not been identified. Very few people with CHARGE will have ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cortical Visual Loss
Cortex or cortical may refer to: Biology * Cortex (anatomy), the outermost layer of an organ ** Cerebral cortex, the outer layer of the vertebrate cerebrum, part of which is the ''forebrain'' *** Motor cortex, the regions of the cerebral cortex involved in voluntary motor functions *** Prefrontal cortex, the anterior part of the frontal lobes of the brain *** Visual cortex, regions of the cerebral cortex involved in visual functions ** Cerebellar cortex, the outer layer of the vertebrate cerebellum ** Renal cortex, the outer portion of the kidney ** Adrenal cortex, a portion of the adrenal gland * Cell cortex, the region of a cell directly underneath the membrane * Cortex (hair), the middle layer of a strand of hair * Cortex (botany), the outer portion of the stem or root of a plant Entertainment * ''Cortex'' (film), a 2008 French film directed by Nicolas Boukhrief * Cortex (podcast), a 2015 podcast * Doctor Neo Cortex, a fictional character in the ''Crash Bandicoot'' vid ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pathologic Nystagmus
Nystagmus is a condition of involuntary (or voluntary, in some cases) eye movement. People can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in reduced or limited vision. In normal eyesight, while the head rotates about an axis, distant visual images are sustained by rotating eyes in the opposite direction of the respective axis. The semicircular canals in the vestibule of the ear sense angular acceleration, and send signals to the nuclei for eye movement in the brain. From here, a signal is relayed to the extraocular muscles to allow one's gaze to fix on an object as the head moves. Nystagmus occurs when the semicircular canals are stimulated (e.g., by means of the caloric test, or by disease) while the head is stationary. The direction of ocular movement is related to the semicircular canal that is being stimulated. There are two key forms of nystagmus: pathological and physiological, with variations within each type. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retinal Detachment
Retinal detachment is a condition where the retina pulls away from the tissue underneath it. It may start in a small area, but without quick treatment, it can spread across the entire retina, leading to serious vision loss and possibly blindness. Retinal detachment is a medical emergency that requires surgery. The retina is a thin layer at the back of the eye that processes visual information and sends it to the brain. When the retina detaches, common symptoms include seeing floaters, flashing lights, a dark shadow in vision, and sudden blurry vision. The most common type of retinal detachment is rhegmatogenous, which occurs when a tear or hole in the retina lets fluid from the center of the eye get behind it, causing the retina to pull away. Rhegmatogenous retinal detachment is most commonly caused by posterior vitreous detachment, a condition where the gel inside the eye breaks down and pulls on the retina. Risk factors include older age, nearsightedness ( myopia), eye injury, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fundus (eye)
The fundus of the eye is the interior surface of the eye opposite the lens and includes the retina, optic disc, macula, fovea, and posterior pole.Cassin, B. and Solomon, S. ''Dictionary of Eye Terminology''. Gainesville, Florida: Triad Publishing Company, 1990. The fundus can be examined by ophthalmoscopy and/or fundus photography. Variation The color of the fundus varies both between and within species. In one study of primates the retina is blue, green, yellow, orange, and red; only the human fundus (from a lightly pigmented blond person) is red. The major differences noted among the "higher" primate species were size and regularity of the border of macular area, size and shape of the optic disc, apparent 'texturing' of retina, and pigmentation of retina. Clinical significance Medical signs that can be detected from observation of eye fundus (generally by funduscopy) include hemorrhages, exudates, cotton wool spots, blood vessel abnormalities ( tortuosity, puls ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cataract
A cataract is a cloudy area in the lens (anatomy), lens of the eye that leads to a visual impairment, decrease in vision of the eye. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colours, blurry or double vision, halos around light, trouble with bright lights, and Nyctalopia, difficulty seeing at night. This may result in trouble driving, reading, or recognizing faces. Poor vision caused by cataracts may also result in an increased risk of Falling (accident), falling and Depression (mood), depression. Cataracts cause 51% of all cases of blindness and 33% of visual impairment worldwide. Cataracts are most commonly due to senescence, aging but may also occur due to Trauma (medicine), trauma or radiation exposure, be congenital cataract, present from birth, or occur following eye surgery for other problems. Risk factors include diabetes mellitus, diabetes, longstanding use of corticosteroid medication, smoking tobacco, prolonged exposu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peters Anomaly
Anterior segment mesenchymal dysgenesis, or simply anterior segment dysgenesis, is a failure of the normal development of the tissues of the anterior segment of the eye. It leads to anomalies in the structure of the mature anterior segment, associated with an increased risk of glaucoma and corneal opacity. Peters' (frequently misspelled as Peter's) anomaly is a specific type of mesenchymal anterior segment dysgenesis, in which there is central corneal leukoma, adhesions of the iris and cornea and abnormalities of the posterior corneal stroma, Descemet's membrane, corneal endothelium, lens and anterior chamber. Pathophysiology Several gene mutations have been identified underlying these anomalies, with the majority of anterior segment dysgenesis genes encoding transcriptional regulators. In this review, the role of the anterior segment dysgenesis genes '' PITX2'' and '' FOXC1'' is considered in relation to the embryology of the anterior segment, the biochemical function of these p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Patau Syndrome
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects. This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13 or trisomy D or T13), or because each cell contains an extra partial copy of the chromosome, or because there are two different lines of cells—one healthy with the correct number of chromosomes 13 and one that contains an extra copy of the chromosome—mosaic Patau syndrome. Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis; the mosaic form is caused by nondisjunction during mitosis. Like all nondisjunction conditions (such as Down syndrome and Edwards syndrome), the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 22
Chromosome 22 is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about 51 million DNA base pairs and representing between 1.5 and 2% of the total DNA in cells. In 1999, researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. Chromosome 22 was the first human chromosome to be fully sequenced. Human chromosomes are numbered by their apparent size in the karyotype, with chromosome 1 being the largest and chromosome 22 having originally been identified as the smallest. However, genome sequencing has revealed that chromosome 21 is actually smaller than chromosome 22. Genes Number of genes The following are some of the gene count estimates of human chromosome 22. Because researchers use different approaches to genome annotation, their predictions of the number of genes on e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
