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Hemeralopia
Hemeralopia (from Greek ''ημέρα'' hemera, "day", and ''αλαός'' alaos, "blindness") is the inability to see clearly in bright light and is the exact opposite of nyctalopia (night blindness), the inability to see clearly in low light. Hemera was the Greek goddess of day, and Nyx was the goddess of night. However, it has been used in an opposite sense by many non-English-speaking doctors. It can be described as insufficient adaptation to bright light. It is also called "heliophobia" and "day blindness". In hemeralopia, daytime vision gets worse, characterised by photoaversion (dislike/avoidance of light) rather than photophobia (eye discomfort/pain in light), which is typical of inflammations of eye. Nighttime vision largely remains unchanged due to the use of rods as opposed to cones (during the day), which are affected by hemeralopia and in turn degrade the daytime optical response. Hence, many patients feel they see better at dusk than in daytime. Causes Hemeralopia i ...
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Achromatopsia
Achromatopsia, also known as Rod monochromacy, is a medical syndrome that exhibits symptoms relating to five conditions, most notably monochromacy. Historically, the name referred to monochromacy in general, but now typically refers only to an autosomal recessive congenital color vision condition. The term is also used to describe cerebral achromatopsia, though monochromacy is usually the only common symptom. The conditions include: monochromatic color blindness, poor visual acuity, and day-blindness. The syndrome is also present in an ''incomplete'' form that exhibits milder symptoms, including residual color vision. Achromatopsia is estimated to affect 1 in 30,000 live births worldwide. Signs and symptoms The five symptoms associated with achromatopsia are: # Color blindness - usually monochromacy # Reduced visual acuity - uncorrectable with lenses # Hemeralopia – with the subject exhibiting photophobia # Nystagmus # Iris operating abnormalities The syndrome is typi ...
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Greek Language
Greek ( el, label=Modern Greek, Ελληνικά, Elliniká, ; grc, Ἑλληνική, Hellēnikḗ) is an independent branch of the Indo-European family of languages, native to Greece, Cyprus, southern Italy (Calabria and Salento), southern Albania, and other regions of the Balkans, the Black Sea coast, Asia Minor, and the Eastern Mediterranean. It has the longest documented history of any Indo-European language, spanning at least 3,400 years of written records. Its writing system is the Greek alphabet, which has been used for approximately 2,800 years; previously, Greek was recorded in writing systems such as Linear B and the Cypriot syllabary. The alphabet arose from the Phoenician script and was in turn the basis of the Latin, Cyrillic, Armenian, Coptic, Gothic, and many other writing systems. The Greek language holds a very important place in the history of the Western world. Beginning with the epics of Homer, ancient Greek literature includes many works of lasting impo ...
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Albinism
Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and pink or blue eyes. Individuals with the condition are referred to as albino. Varied use and interpretation of the terms mean that written reports of albinistic animals can be difficult to verify. Albinism can reduce the survivability of an animal; for example, it has been suggested that albino alligators have an average survival span of only 24 hours due to the lack of protection from UV radiation and their lack of camouflage to avoid predators. It is a common misconception that all albino animals have characteristic pink or red eyes (resulting from the lack of pigment in the iris allowing the blood vessels of the retina to be visible), however this is not the case for some forms of albinism. Familiar albino animals include in-bred strains of laboratory animals (rats, mice and rabbits), but populations of naturally occurring albino animals exist in the wil ...
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Sunglasses
Sunglasses or sun glasses (informally called shades or sunnies; more names below) are a form of protective eyewear designed primarily to prevent bright sunlight and high-energy visible light from damaging or discomforting the eyes. They can sometimes also function as a visual aid, as variously termed spectacles or glasses exist, featuring lenses that are colored, polarized or darkened. In the early 20th century, they were also known as sun cheaters (cheaters then being an American slang term for glasses). Since the 1930s, sunglasses have been a popular fashion accessory, especially on the beach. The American Optometric Association recommends wearing sunglasses that block ultraviolet radiation (UV) whenever a person is in the sunlight to protect the eyes from UV and blue light, which can cause several serious eye problems. Their usage is mandatory immediately after some surgical procedures, such as LASIK, and recommended for a certain time period in dusty areas, when leaving ...
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Chiasma Opticum
In neuroanatomy, the optic chiasm, or optic chiasma (; , ), is the part of the brain where the optic nerves cross. It is located at the bottom of the brain immediately inferior to the hypothalamus. The optic chiasm is found in all vertebrates, although in cyclostomes (lampreys and hagfishes), it is located within the brain. This article is about the optic chiasm of vertebrates, which is the best known nerve chiasm, but not every chiasm denotes a crossing of the body midline (e.g., in some invertebrates, see Chiasm (anatomy)). A midline crossing of nerves inside the brain is called a decussation (see Definition of types of crossings). Structure For the different types of optic chiasm, see In all vertebrates, the optic nerves of the left and the right eye meet in the body midline, ventral to the brain. In many vertebrates the left optic nerve crosses over the right one without fusing with it. In vertebrates with a large overlap of the visual fields of the two eyes, i.e ...
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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 exam ...
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Optic Atrophy
Optic neuropathy is damage to the optic nerve from any cause. The optic nerve is a bundle of millions of fibers in the retina that sends visual signals to the brain. Damage and death of these nerve cells, or neurons, leads to characteristic features of optic neuropathy. The main symptom is loss of vision, with colors appearing subtly washed out in the affected eye. A pale disc is characteristic of long-standing optic neuropathy. In many cases, only one eye is affected and patients may not be aware of the loss of color vision until the doctor asks them to cover the healthy eye. Optic neuropathy is often called optic atrophy, to describe the loss of some or most of the fibers of the optic nerve. Ischemic optic neuropathy In ischemic optic neuropathies, there is insufficient blood flow (ischemia) to the optic nerve. The anterior optic nerve is supplied by the short posterior ciliary artery and choroidal circulation, while the retrobulbar optic nerve is supplied intraorbitally by ...
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Chorioretinitis
Chorioretinitis is an inflammation of the choroid (thin pigmented vascular coat of the eye) and retina of the eye. It is a form of posterior uveitis. If only the choroid is inflamed, not the retina, the condition is termed choroiditis. The ophthalmologist's goal in treating these potentially blinding conditions is to eliminate the inflammation and minimize the potential risk of therapy to the patient. Symptoms Symptoms may include the presence of floating black spots, blurred vision, pain or redness in the eye, sensitivity to light, or excessive tearing. Causes Chorioretinitis is often caused by toxoplasmosis and cytomegalovirus infections (mostly seen in immunodeficient subjects such as people with HIV/AIDS or on immunosuppressant drugs). Congenital toxoplasmosis via transplacental transmission can also lead to sequelae such as chorioretinitis along with hydrocephalus and cerebral calcifications. Other possible causes of chorioretinitis are syphilis, sarcoidosis, tuberculosis, Be ...
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Locus (genetics)
In genetics, a locus (plural loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of protein-coding genes in a complete haploid set of 23 chromosomes is estimated at 19,000–20,000. Genes may possess multiple variants known as alleles, and an allele may also be said to reside at a particular locus. Diploid and polyploid cells whose chromosomes have the same allele at a given locus are called homozygous with respect to that locus, while those that have different alleles at a given locus are called heterozygous. The ordered list of loci known for a particular genome is called a gene map. Gene mapping is the process of determining the specific locus or loci responsible for producing a particular phenotype or biological trait. Association mapping, also known as "linkage disequilibrium mapping", is a method of ma ...
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Dysmorphism
A dysmorphic feature is an abnormal difference in body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome or birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature. One of the key challenges in identifying and describing dysmorphic features is the use and understanding of specific terms between different individuals. Clinical geneticists and pediatricians are usually those most closely involved with the identification and description of dysmorphic features, as most are apparent during childhood. Dysmorphic features can vary from isolated, mild anomalies such as clinodactyly or synophrys to severe congenital anomalies, such as heart defects and holoprosencephaly. In some cases, dysmorphic features are part of a larger clinical picture, sometimes known as a sequence, syndrome or association. Recognizing the patterns of dysmorphic features is an im ...
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Cohen Syndrome
Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome) is a very rare autosomal recessive genetic disorder with varied expression, characterised by obesity, intellectual disability, distinct craniofacial abnormalities and potential ocular dysfunction. Signs and symptoms Genetics This syndrome is caused by pathogenic variants (mutations) in the VPS13B gene at chromosomal locus 8q22. It has an autosomal recessive transmission with variable expression. Variants in VSP13B also cause Mirhosseini–Holmes–Walton syndrome, which is now considered to be the same entity as Cohen syndrome Diagnosis Cohen syndrome is diagnosed by clinical examination but is often difficult due to variation in expression. Ocular complications, though rare, are listed as optic atrophy, microphthalmia, pigmentary chorioretinitis, hemeralopia (decreased vision in bright light), myopia, strabismus, nystagmus and iris/retinal coloboma. General appearance is obesity with thin/elongated ar ...
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Cancer-associated Retinopathy
Autoimmune retinopathy (AIR) is a rare disease in which the patient's immune system attacks proteins in the retina, leading to loss of eyesight. The disease is poorly understood, but may be the result of cancer or cancer chemotherapy. The disease is an autoimmune condition characterized by vision loss, blind spots, and visual field abnormalities. It can be divided into cancer-associated retinopathy (CAR) and melanoma-associated retinopathy (MAR). The condition is associated with retinal degeneration caused by autoimmune antibodies recognizing retinal proteins as antigens and targeting them. AIR's prevalence is extremely rare, with CAR being more common than MAR. It is more commonly diagnosed in females (approximately 60% of diagnosed patients are females) in the age range of 50–60. Types Cancer-associated retinopathy A division of AIR, cancer-associated retinopathy is a paraneoplastic syndrome, which is a disorder caused by an immune system response to an abnormality. Autoimmun ...
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