Coloboma: Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.Microphthalmos: Congenital or developmental anomaly in which the eyeballs are abnormally small.Anophthalmos: Congenital absence of the eye or eyes.Choanal Atresia: A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous.Hypertelorism: Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Pupil Disorders: Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes.Abnormalities, MultipleIris: The most anterior portion of the uveal layer, separating the anterior chamber from the posterior. It consists of two layers - the stroma and the pigmented epithelium. Color of the iris depends on the amount of melanin in the stroma on reflection from the pigmented epithelium.PAX2 Transcription Factor: A paired box transcription factor that is essential for ORGANOGENESIS of the CENTRAL NERVOUS SYSTEM and KIDNEY.Posterior Eye Segment: The back two-thirds of the eye that includes the anterior hyaloid membrane and all of the optical structures behind it: the VITREOUS HUMOR; RETINA; CHOROID; and OPTIC NERVE.Choroid: The thin, highly vascular membrane covering most of the posterior of the eye between the RETINA and SCLERA.Fundus Oculi: The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed)Syndrome: A characteristic symptom complex.Biological Ontologies: Structured vocabularies describing concepts from the fields of biology and relationships between concepts.Disease: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown.Vocabulary, Controlled: A specified list of terms with a fixed and unalterable meaning, and from which a selection is made when CATALOGING; ABSTRACTING AND INDEXING; or searching BOOKS; JOURNALS AS TOPIC; and other documents. The control is intended to avoid the scattering of related subjects under different headings (SUBJECT HEADINGS). The list may be altered or extended only by the publisher or issuing agency. (From Harrod's Librarians' Glossary, 7th ed, p163)Tay-Sachs Disease: An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.Hexosaminidase A: A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.Access to Information: Individual's rights to obtain and use information collected or generated by others.beta-N-Acetylhexosaminidases: A hexosaminidase specific for non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. It acts on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Two specific mammalian isoenzymes of beta-N-acetylhexoaminidase are referred to as HEXOSAMINIDASE A and HEXOSAMINIDASE B. Deficiency of the type A isoenzyme causes TAY-SACHS DISEASE, while deficiency of both A and B isozymes causes SANDHOFF DISEASE. The enzyme has also been used as a tumor marker to distinguish between malignant and benign disease.Lipidoses: Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.Journal Impact Factor: A quantitative measure of the frequency on average with which articles in a journal have been cited in a given period of time.Cerebellum: The part of brain that lies behind the BRAIN STEM in the posterior base of skull (CRANIAL FOSSA, POSTERIOR). It is also known as the "little brain" with convolutions similar to those of CEREBRAL CORTEX, inner white matter, and deep cerebellar nuclei. Its function is to coordinate voluntary movements, maintain balance, and learn motor skills.Dandy-Walker Syndrome: A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)Red-Cell Aplasia, Pure: Suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production.Cerebellar Diseases: Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.Choroid Diseases: Disorders of the choroid including hereditary choroidal diseases, neoplasms, and other abnormalities of the vascular layer of the uvea.Optic Nerve: The 2nd cranial nerve which conveys visual information from the RETINA to the brain. The nerve carries the axons of the RETINAL GANGLION CELLS which sort at the OPTIC CHIASM and continue via the OPTIC TRACTS to the brain. The largest projection is to the lateral geniculate nuclei; other targets include the SUPERIOR COLLICULI and the SUPRACHIASMATIC NUCLEI. Though known as the second cranial nerve, it is considered part of the CENTRAL NERVOUS SYSTEM.Optic Disk: The portion of the optic nerve seen in the fundus with the ophthalmoscope. It is formed by the meeting of all the retinal ganglion cell axons as they enter the optic nerve.Optic Nerve Injuries: Injuries to the optic nerve induced by a trauma to the face or head. These may occur with closed or penetrating injuries. Relatively minor compression of the superior aspect of orbit may also result in trauma to the optic nerve. Clinical manifestations may include visual loss, PAPILLEDEMA, and an afferent pupillary defect.Optic Nerve Diseases: Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect.Eye: The organ of sight constituting a pair of globular organs made up of a three-layered roughly spherical structure specialized for receiving and responding to light.Ciliary Body: A ring of tissue extending from the scleral spur to the ora serrata of the RETINA. It consists of the uveal portion and the epithelial portion. The ciliary muscle is in the uveal portion and the ciliary processes are in the epithelial portion.Cameroon: A republic in central Africa lying east of CHAD and the CENTRAL AFRICAN REPUBLIC and west of NIGERIA. The capital is Yaounde.Retinal Detachment: Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Retinal detachment occurs more commonly in men than in women, in eyes with degenerative myopia, in aging and in aphakia. It may occur after an uncomplicated cataract extraction, but it is seen more often if vitreous humor has been lost during surgery. (Dorland, 27th ed; Newell, Ophthalmology: Principles and Concepts, 7th ed, p310-12).Hospitals, Teaching: Hospitals engaged in educational and research programs, as well as providing medical care to the patients.Sodium Glutamate: One of the FLAVORING AGENTS used to impart a meat-like flavor.Flavoring Agents: Substances added to foods and medicine to improve the quality of taste.Editorial Policies: The guidelines and policy statements set forth by the editor(s) or editorial board of a publication.Food Additives: Substances which are of little or no nutritive value, but are used in the processing or storage of foods or animal feed, especially in the developed countries; includes ANTIOXIDANTS; FOOD PRESERVATIVES; FOOD COLORING AGENTS; FLAVORING AGENTS; ANTI-INFECTIVE AGENTS (both plain and LOCAL); VEHICLES; EXCIPIENTS and other similarly used substances. Many of the same substances are PHARMACEUTIC AIDS when added to pharmaceuticals rather than to foods.Periodicals as Topic: A publication issued at stated, more or less regular, intervals.False Positive Reactions: Positive test results in subjects who do not possess the attribute for which the test is conducted. The labeling of healthy persons as diseased when screening in the detection of disease. (Last, A Dictionary of Epidemiology, 2d ed)Taste: The ability to detect chemicals through gustatory receptors in the mouth, including those on the TONGUE; the PALATE; the PHARYNX; and the EPIGLOTTIS.FloridaIris Diseases: Diseases, dysfunctions, or disorders of or located in the iris.Pupil: The aperture in the iris through which light passes.Iris Plant: A plant genus of the family IRIDACEAE that contains IRIP, a type-1 ribosome-inactivating protein, and iridals (TRITERPENES).Uveal Diseases: Diseases of the uvea.Ophthalmology: A surgical specialty concerned with the structure and function of the eye and the medical and surgical treatment of its defects and diseases.Congenital Abnormalities: Malformations of organs or body parts during development in utero.American Medical Association: Professional society representing the field of medicine.