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Ocular Albinism
Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes. There are multiple forms of ocular albinism, which are clinically similar.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . Both known genes are on the X chromosome. When the term ''"autosomal recessive ocular albinism"'' ("AROA") is used, it usually refers to mild variants of oculocutaneous albinism Oculocutaneous albinism is a form of albinism involving the eyes ('' oculo-''), the skin (''-cutaneous''), and the hair. Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in seve ... rather than ocular albinism, which is ''X-linked''. __TOC__ Types References External links GeneReviews/NCBI/NIH/UW entry on Ocular Albinism, X-Linked {{DEFAULTSORT:Ocular Albinism Albinism Amino acid metabolism disorder ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ă…land
Åland ( fi, Ahvenanmaa: ; ; ) is an Federacy, autonomous and Demilitarized zone, demilitarised region of Finland since 1920 by a decision of the League of Nations. It is the smallest region of Finland by area and population, with a size of 1,580 km2, and a population of 30,129, constituting 0.51% of its land area and 0.54% of its population. Its only official language is Swedish language, Swedish and the capital city is Mariehamn. Åland is situated in an archipelago, called the Åland Islands, at the entrance to the Gulf of Bothnia in the Baltic Sea belonging to Finland. It comprises Fasta Åland on which 90% of the population resides and about 6,500 Skerry, skerries and islands to its east. Of Åland's thousands of islands, about 60–80 are inhabited. Fasta Åland is separated from the coast of Roslagen in Sweden by of open water to the west. In the east, the Åland archipelago is Geographic contiguity, contiguous with the Archipelago Sea, Finnish archipelago. Åland ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Deafness
Deafness has varying definitions in cultural and medical contexts. In medical contexts, the meaning of deafness is hearing loss that precludes a person from understanding spoken language, an audiological condition. In this context it is written with a lower case ''d''. It later came to be used in a cultural context to refer to those who primarily communicate through sign language regardless of hearing ability, often capitalized as ''Deaf'' and referred to as "big D Deaf" in speech and sign. The two definitions overlap but are not identical, as hearing loss includes cases that are not severe enough to impact spoken language comprehension, while cultural Deafness includes hearing people who use sign language, such as children of deaf adults. Medical context In a medical context, deafness is defined as a degree of hearing difference such that a person is unable to understand speech, even in the presence of amplification. In profound deafness, even the highest intensity sound ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sensorineural Deafness
Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). SNHL accounts for about 90% of reported hearing loss . SNHL is usually permanent and can be mild, moderate, severe, profound, or total. Various other descriptors can be used depending on the shape of the audiogram, such as high frequency, low frequency, U-shaped, notched, peaked, or flat. ''Sensory'' hearing loss often occurs as a consequence of damaged or deficient cochlear hair cells. Hair cells may be abnormal at birth or damaged during the lifetime of an individual. There are both external causes of damage, including infection, and ototoxic drugs, as well as intrinsic causes, including genetic mutations. A common cause or exacerbating factor in SNHL is prolonged exposure to environmental noise, or noise-induced hearing loss. Exposure to a single very loud noise such ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nyctalopia
Nyctalopia (; ), also called night-blindness, is a condition making it difficult or impossible to see in relatively low light. It is a symptom of several eye diseases. Night blindness may exist from birth, or be caused by injury or malnutrition (for example, vitamin A deficiency). It can be described as insufficient adaptation to darkness. The most common cause of nyctalopia is retinitis pigmentosa, a disorder in which the rod cells in the retina gradually lose their ability to respond to the light. Patients with this genetic condition have progressive nyctalopia and eventually, their daytime vision may also be affected. In X-linked congenital stationary night blindness, from birth the rods either do not work at all, or work very little, but the condition does not get worse. Another cause of night blindness is a deficiency of retinol, or vitamin A1, found in fish oils, liver and dairy products. The opposite problem, the inability to see in bright light, is known as ''hemeralopia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Color Blindness
Color blindness or color vision deficiency (CVD) is the decreased ability to color vision, see color or differences in color. It can impair tasks such as selecting ripe fruit, choosing clothing, and reading traffic lights. Color blindness may make some academic activities more difficult. However, issues are generally minor, and the colorblind automatically develop adaptations and coping mechanisms. People with achromatopsia, total color blindness (achromatopsia) may also be Hemeralopia, uncomfortable in bright environments and have visual impairment, decreased visual acuity. The most common cause of color blindness is an Heredity, inherited problem or variation in the functionality of one or more of the three classes of cone cells in the retina, which mediate color vision. The most common form is caused by a genetic disorder called congenital red–green color blindness. Males are more likely to be color blind than females, because the genes responsible for the most common for ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dichromacy
Dichromacy (from Greek ''di'', meaning "two" and ''chromo'', meaning "color") is the state of having two types of functioning photoreceptors, called cone cells, in the eyes. Organisms with dichromacy are called dichromats. Dichromats require only two primary colors to be able to represent their visible gamut. By comparison, trichromats need three primary colors, and tetrachromats need four. Likewise, every color in a dichromat's gamut can be evoked with monochromatic light. By comparison, every color in a trichromat's gamut can be evoked with a combination of monochromatic light and white light. Dichromacy in humans is a color vision deficiency in which one of the three cone cells is absent or not functioning and color is thereby reduced to two dimensions."Guidelines: Colour Blindness." Tiresias.org. Retrie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oculocutaneous Albinism
Oculocutaneous albinism is a form of albinism involving the eyes ('' oculo-''), the skin (''-cutaneous''), and the hair. Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders. Oculocutaneous albinism is also found in non-human animals. Types The following types of oculocutaneous albinism have been identified in humans. See also * Piebaldism * List of skin conditions * List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer There are several conditions of or affecting the human integumentary system that are associated with an increased risk of developing nonmelanoma skin cancer (i.e. squamous-cell carcinoma and basal-cell carcinoma). See also * List of c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CACNA1F
Cav1.4 also known as the calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), is a human gene. This gene encodes a member of the alpha-1 subunit family; a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants of the gene described here have been observed but have not been thoroughly characterized. Mutations in this gene have been shown to cause incomplete X-linked congenital stationary night blindness Congenital stationary night blindness (CSNB) is a rare non-progressi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nettleship–Falls Syndrome
Ocular albinism type 1 (OA1) is the most common type of ocular albinism, with a prevalence rate of 1:50,000. It is an inheritable classical Mendelian type X-linked recessive disorder wherein the retinal pigment epithelium lacks pigment while hair and skin appear normal. Since it is usually an X-linked disorder, it occurs mostly in males, while females are carriers unless they are homozygous. About 60 missense mutation, missense and nonsense mutations, insertion (genetics), insertions, and deletion (genetics), deletions have been identified in ''Oa1''. Mutations in OA1 have been linked to defective glycosylation and thus improper intracellular transportation.Schiaffino, M.V., d'Addio, M., Alloni, A., Baschirotto, C., Valetti, C., Cortese, K., Puri, C., Bassi, M.T., Colla, C., De Luca, M., Tacchetti, C. and Ballabio, A. (1999). Ocular albinism: Evidence for a defect in an intracellular signal transduction system. ''Nature Genetics'' 23:108. The eponyms of the name "Nettleship–Fal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
