Anophthalmos: Congenital absence of the eye or eyes.Eye Evisceration: The surgical removal of the inner contents of the eye, leaving the sclera intact. It should be differentiated from ORBIT EVISCERATION which removes the entire contents of the orbit, including eyeball, blood vessels, muscles, fat, nerve supply, and periosteum.Microphthalmos: Congenital or developmental anomaly in which the eyeballs are abnormally small.Eye, Artificial: A ready-made or custom-made prosthesis of glass or plastic shaped and colored to resemble the anterior portion of a normal eye and used for cosmetic reasons. It is attached to the anterior portion of an orbital implant (ORBITAL IMPLANTS) which is placed in the socket of an enucleated or eviscerated eye. (From Dorland, 28th ed)Eye Enucleation: The surgical removal of the eyeball leaving the eye muscles and remaining orbital contents intact.Orbital Implants: Rounded objects made of coral, teflon, or alloplastic polymer and covered with sclera, and which are implanted in the orbit following enucleation. An artificial eye (EYE, ARTIFICIAL) is usually attached to the anterior of the orbital implant for cosmetic purposes.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.Medicine in ArtColoboma: Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.Optic Chiasm: The X-shaped structure formed by the meeting of the two optic nerves. At the optic chiasm the fibers from the medial part of each retina cross to project to the other side of the brain while the lateral retinal fibers continue on the same side. As a result each half of the brain receives information about the contralateral visual field from both eyes.Anophthalmos: Congenital absence of the eye or eyes.Eye, Artificial: A ready-made or custom-made prosthesis of glass or plastic shaped and colored to resemble the anterior portion of a normal eye and used for cosmetic reasons. It is attached to the anterior portion of an orbital implant (ORBITAL IMPLANTS) which is placed in the socket of an enucleated or eviscerated eye. (From Dorland, 28th ed)Eye Evisceration: The surgical removal of the inner contents of the eye, leaving the sclera intact. It should be differentiated from ORBIT EVISCERATION which removes the entire contents of the orbit, including eyeball, blood vessels, muscles, fat, nerve supply, and periosteum.Microphthalmos: Congenital or developmental anomaly in which the eyeballs are abnormally small.Eye Enucleation: The surgical removal of the eyeball leaving the eye muscles and remaining orbital contents intact.Medicine in ArtEye: 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.Orbit: Bony cavity that holds the eyeball and its associated tissues and appendages.Orbital Implants: Rounded objects made of coral, teflon, or alloplastic polymer and covered with sclera, and which are implanted in the orbit following enucleation. An artificial eye (EYE, ARTIFICIAL) is usually attached to the anterior of the orbital implant for cosmetic purposes.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Anophthalmos: Congenital absence of the eye or eyes.Eye Evisceration: The surgical removal of the inner contents of the eye, leaving the sclera intact. It should be differentiated from ORBIT EVISCERATION which removes the entire contents of the orbit, including eyeball, blood vessels, muscles, fat, nerve supply, and periosteum.Microphthalmos: Congenital or developmental anomaly in which the eyeballs are abnormally small.Eye, Artificial: A ready-made or custom-made prosthesis of glass or plastic shaped and colored to resemble the anterior portion of a normal eye and used for cosmetic reasons. It is attached to the anterior portion of an orbital implant (ORBITAL IMPLANTS) which is placed in the socket of an enucleated or eviscerated eye. (From Dorland, 28th ed)Eye Enucleation: The surgical removal of the eyeball leaving the eye muscles and remaining orbital contents intact.Orbital Implants: Rounded objects made of coral, teflon, or alloplastic polymer and covered with sclera, and which are implanted in the orbit following enucleation. An artificial eye (EYE, ARTIFICIAL) is usually attached to the anterior of the orbital implant for cosmetic purposes.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.Prince Edward Island: An island in the Gulf of St. Lawrence constituting a province of Canada in the eastern part of the country. It is very irregular in shape with many deep inlets. Its capital is Charlottetown. Discovered by the French in 1534 and originally named Ile Saint-Jean, it was renamed in 1799 in honor of Prince Edward, fourth son of George III and future father of Queen Victoria. (From Webster's New Geographical Dictionary, 1988, p981 & Room, Brewer's Dictionary of Names, 1992, p433)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.Optic Chiasm: The X-shaped structure formed by the meeting of the two optic nerves. At the optic chiasm the fibers from the medial part of each retina cross to project to the other side of the brain while the lateral retinal fibers continue on the same side. As a result each half of the brain receives information about the contralateral visual field from both eyes.Anophthalmos: Congenital absence of the eye or eyes.Eye, Artificial: A ready-made or custom-made prosthesis of glass or plastic shaped and colored to resemble the anterior portion of a normal eye and used for cosmetic reasons. It is attached to the anterior portion of an orbital implant (ORBITAL IMPLANTS) which is placed in the socket of an enucleated or eviscerated eye. (From Dorland, 28th ed)Eye Evisceration: The surgical removal of the inner contents of the eye, leaving the sclera intact. It should be differentiated from ORBIT EVISCERATION which removes the entire contents of the orbit, including eyeball, blood vessels, muscles, fat, nerve supply, and periosteum.Microphthalmos: Congenital or developmental anomaly in which the eyeballs are abnormally small.Eye Enucleation: The surgical removal of the eyeball leaving the eye muscles and remaining orbital contents intact.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.Orbit: Bony cavity that holds the eyeball and its associated tissues and appendages.Orbital Implants: Rounded objects made of coral, teflon, or alloplastic polymer and covered with sclera, and which are implanted in the orbit following enucleation. An artificial eye (EYE, ARTIFICIAL) is usually attached to the anterior of the orbital implant for cosmetic purposes.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.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.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.Ophthalmology: A surgical specialty concerned with the structure and function of the eye and the medical and surgical treatment of its defects and diseases.Tomography, Optical Coherence: An imaging method using LASERS that is used for mapping subsurface structure. When a reflective site in the sample is at the same optical path length (coherence) as the reference mirror, the detector observes interference fringes.Visual Acuity: Clarity or sharpness of OCULAR VISION or the ability of the eye to see fine details. Visual acuity depends on the functions of RETINA, neuronal transmission, and the interpretative ability of the brain. Normal visual acuity is expressed as 20/20 indicating that one can see at 20 feet what should normally be seen at that distance. Visual acuity can also be influenced by brightness, color, and contrast.Eye Diseases: Diseases affecting the eye.Retrospective Studies: Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.Eye Movements: Voluntary or reflex-controlled movements of the eye.Eye Injuries: Damage or trauma inflicted to the eye by external means. The concept includes both surface injuries and intraocular injuries.Physicians: Individuals licensed to practice medicine.Health Services Accessibility: The degree to which individuals are inhibited or facilitated in their ability to gain entry to and to receive care and services from the health care system. Factors influencing this ability include geographic, architectural, transportational, and financial considerations, among others.Porphyria, Acute Intermittent: An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.Celastrus: A plant genus of the family CELASTRACEAE that contains insecticidal sesquiterpenoids and celastrus oil.Porphyrias: A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.Hydroxymethylbilane Synthase: An enzyme that catalyzes the tetrapolymerization of the monopyrrole PORPHOBILINOGEN into the hydroxymethylbilane preuroporphyrinogen (UROPORPHYRINOGENS) in several discrete steps. It is the third enzyme in the 8-enzyme biosynthetic pathway of HEME. In humans, deficiency in this enzyme encoded by HMBS (or PBGD) gene results in a form of neurological porphyria (PORPHYRIA, ACUTE INTERMITTENT). This enzyme was formerly listed as EC 4.3.1.8Status Epilepticus: A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (From N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30)Carbamazepine: An anticonvulsant used to control grand mal and psychomotor or focal seizures. Its mode of action is not fully understood, but some of its actions resemble those of PHENYTOIN; although there is little chemical resemblance between the two compounds, their three-dimensional structure is similar.Pancytopenia: Deficiency of all three cell elements of the blood, erythrocytes, leukocytes and platelets.Agranulocytosis: A decrease in the number of GRANULOCYTES; (BASOPHILS; EOSINOPHILS; and NEUTROPHILS).PorphobilinogenUrticaria: A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.Cellular Phone: Analog or digital communications device in which the user has a wireless connection from a telephone to a nearby transmitter. It is termed cellular because the service area is divided into multiple "cells." As the user moves from one cell area to another, the call is transferred to the local transmitter.Professional Practice Location: Geographic area in which a professional person practices; includes primarily physicians and dentists.Magnaporthe: A genus of FUNGI, in the family Magnaporthaceae of uncertain position (incertae sedis). It is best known for its species, M. grisea, which is one of the most popular experimental organisms of all fungal plant pathogens. Its anamorph is PYRICULARIA GRISEA.Ophthalmology: A surgical specialty concerned with the structure and function of the eye and the medical and surgical treatment of its defects and diseases.LondonStreptococcus mutans: A polysaccharide-producing species of STREPTOCOCCUS isolated from human dental plaque.Medically Underserved Area: A geographic location which has insufficient health resources (manpower and/or facilities) to meet the medical needs of the resident population.Rural Health Services: Health services, public or private, in rural areas. The services include the promotion of health and the delivery of health care.Career Choice: Selection of a type of occupation or profession.Optometry: The professional practice of primary eye and vision care that includes the measurement of visual refractive power and the correction of visual defects with lenses or glasses.Environmental Health: The science of controlling or modifying those conditions, influences, or forces surrounding man which relate to promoting, establishing, and maintaining health.Foundations: Organizations established by endowments with provision for future maintenance.Nuclear Warfare: Warfare involving the use of NUCLEAR WEAPONS.Congenital Abnormalities: Malformations of organs or body parts during development in utero.JapanDiabetes Mellitus, Type 1: A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Population Surveillance: Ongoing scrutiny of a population (general population, study population, target population, etc.), generally using methods distinguished by their practicability, uniformity, and frequently their rapidity, rather than by complete accuracy.Infant, Newborn: An infant during the first month after birth.Birth Weight: The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms.Microphthalmos: Congenital or developmental anomaly in which the eyeballs are abnormally small.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Abnormalities, MultipleSyndrome: A characteristic symptom complex.Cataract: Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)Anophthalmos: Congenital absence of the eye or eyes.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.United StatesNystagmus, Pathologic: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)Microphthalmia-Associated Transcription Factor: A basic helix-loop-helix leucine zipper transcription factor that regulates the CELL DIFFERENTIATION and development of a variety of cell types including MELANOCYTES; OSTEOCLASTS; and RETINAL PIGMENT EPITHELIUM. Mutations in MITF protein have been associated with OSTEOPETROSIS and WAARDENBURG SYNDROME.

Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988-94. (1/86)

AIM: To describe the prevalence of anophthalmia/microphthalmia in babies born in England 1988-94, as well as their overall survival, and the incidence of associated eye and non-eye malformations; to determine the usefulness of different sources of medical and health service information for establishing a retrospective register of anophthalmia/microphthalmia. METHODS: Multiple sources for initial (retrospective) case ascertainment were surveyed, followed by questionnaires to clinicians to establish severity, associated malformations, and aetiology for England, 1988-94. The population surveyed was all births in England for this time period (4,570,350 births). Cases included live births, stillbirths, or terminations after prenatal diagnosis of congenital anomaly, with anophthalmia/microphthalmia, with or without other malformations and syndromes. Trisomy 13 was subsequently excluded. RESULTS: The proportion of cases notified by any one information source was not more than 26% (Office for National Statistics Register 22%, paediatricians 26%, district sources 25%). Sixty nine per cent of cases (51% of severe cases) were notified by only one source. A total of 449 cases were reported, prevalence 1.0 per 10,000 births. The prevalence was stable over time, although the proportion notified by clinicians rose in more recent years. Thirty four per cent of affected babies had mild microphthalmia. Of those with severe anophthalmia/microphthalmia, 51% were bilateral, other eye malformations were present in 72%, non-eye malformations in 65%, and a "known aetiology" was attributed in 22%. Three quarters of those severely affected survived infancy. CONCLUSIONS: Despite high response rates from the sources of information contacted, the lack of duplication between sources indicates the difficulties of retrospective ascertainment and the need for multiple sources when establishing a register. Anophthalmos/microphthalmos is usually associated with other malformations. Most cases are of unknown aetiology.  (+info)

Anophthalmia in litters of female rats treated with the food-derived carcinogen, 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. (2/86)

Anophthalmia in litters of pregnant rats treated with 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP), a food-derived carcinogen, was incidentally encountered in a risk-assessment study with 2-generation exposure to PhIP. Female Fischer 344 animals were given 200 ppm PhIP in the diet for 4 wk before mating with nontreated males and also during gestation and lactation periods. Mean numbers of newborn rats per litter in control and PhIP-treated groups were 7.9 +/- 2.9 and 7.1 +/- 1.6 in trial 1 and 8.3 +/- 1.9 and 6.1 +/- 2.4 in trial 2. Among 49 (trial 1) and 63 (trial 2) offspring from PhIP-treated dams, 9 (18.4%) and 32 (50.8%) demonstrated anophthalmia, and 1 (2.0%) and 8 (12.7%) demonstrated hydrocephaly. Five of 7 (71.4%) and 13 of 14 (92.9%) dams delivered pups with malformations in trials 1 and 2, respectively. Also, in a previous study that was carried out with the same protocol and that used the Sprague-Dawley strain of rats, anophthalmia and hydrocephaly were observed in 2 and 1 out of 175 pups, respectively, from 100 ppm PhIP-treated dams. No congenital malformations were found in control groups of the same size in either experiment. In addition to having been previously identified as a cause of carcinogenic activity, our findings suggest that PhIP is capable of causing anophthalmia in rats when administered during the gestational period.  (+info)

Anophthalmia and retinal degeneration associated with stenosis of the optic foramen in Fischer 344 rats. (3/86)

Bilateral anophthalmia was discovered in a male rat (No. 1) and unilateral anophthalmia was found in the left eye of two female rats (Nos. 2 and 3) derived from a Fischer 344 inbred colony. One male rat (No. 4), a littermate of No. 3, had externally normal eyes, but his left eye had severe retinal atrophy, which was detected by ophthalmoscopy. The eyelids in both eyes of No. 1 and in the left eyes of Nos. 2 and 3 were present. Radiography of the skull revealed small optic foramina on both sides of No. 1 and on the affected side of Nos. 2, 3, and 4. Histologically, both globes and optic nerves (ONs) of No. 1 and the left globe and ONs of Nos. 2 and 3 were completely missing. Diffuse retinal degeneration in the left globe and axonal degeneration in the left ON and the right optic tract were observed in No. 4. Dysplasia of the sphenoid bone associated with stenosis of the optic foramen was detected on the affected side of all rats. Thus, ON aplasia in anophthalmic rats and atrophic ON in a rat with retinal degeneration seem to be closely related to stenosis of the optic foramen.  (+info)

Total retinal degeneration in apparent anophthalmos of the Syrian hamster. (4/86)

Anophthalmia in the Syrian hamster was found to result from an extensive degeneration of retinal tissue and tissues derived from the retina. Eyes of affected animals were normal at the twelfth day of gestation (the average gestation period in the Syrian hamster is 16 days). However, the retina of these eyes showed rapid and extensive degeneration during the first two weeks after birth. In adults, the sclera-choroid complex was the only prominent structure of the original eye, with an occasional remnant of deteriorated lens.  (+info)

Spontaneous reversal of nystagmus in the dark. (5/86)

AIM: To report five children with horizontal jerk nystagmus in whom eye movement recordings in the dark revealed a spontaneous reversal in the direction of the nystagmus beat. Three patients were blind in one eye and were diagnosed as having a manifest latent nystagmus (MLN), and two patients had strabismus and congenital nystagmus (CN). METHODS: Eye movements were recorded using DC electro-oculography with simultaneous video recording, including infrared recording in total darkness. RESULTS: Four patients had decelerating velocity slow phase jerk nystagmus when recorded under natural lighting conditions; the fifth case had accelerating velocity and linear slow phase jerk nystagmus. Under absolute darkness, nystagmus reversed in direction of beat with a mixture of linear and decelerating velocity slow phase waveforms. One child with unilateral anophthalmos could wilfully reverse the beat direction of his nystagmus by trying to look with his blind eye in the light and dark. CONCLUSIONS: These observations support the theory that LN/MLN beat direction is determined by the "presumed" viewing eye and may be consciously controlled. The spontaneous reversal of beat direction in the dark suggests eye dominance is predetermined. Eye movement recordings identified mixed nystagmus waveforms indicating that CN (accelerating velocity slow phases) and LN/MLN (linear/decelerating velocity slow phases) coexist in these subjects.  (+info)

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. (6/86)

We report an epidemiological and genetic study attempting complete ascertainment of subjects with microphthalmia, anophthalmia, and coloboma (MAC) born in Scotland during a 16 year period beginning on 1 January 1981. A total of 198 cases were confirmed giving a minimum live birth prevalence of 19 per 100 000. One hundred and twenty-two MAC cases (61.6%) from 115 different families were clinically examined and detailed pregnancy, medical, and family histories obtained. A simple, rational, and apparently robust classification of the eye phenotype was developed based on the presence or absence of a defect in closure of the optic (choroidal) fissure. A total of 85/122 (69.7%) of cases had optic fissure closure defects (OFCD), 12/122 (9.8%) had non-OFCD, and 25/122 (20.5%) had defects that were unclassifiable owing to the severity of the corneal or anterior chamber abnormality. Segregation analysis assuming single and multiple incomplete ascertainment, respectively, returned a sib recurrence risk of 6% and 10% in the whole group and 8.1% and 13.3% in the OFCD subgroup. Significant recurrence risks were found in both unilateral and bilateral disease. In four families, one parent had an OFCD, two of which were new diagnoses in asymptomatic subjects. All recurrences in first degree relatives occurred in the OFCD group with a single first cousin recurrence seen in the non-OFCD group. A total of 84/122 of the MAC cases were screened for mutations in the coding regions of PAX6, CHX10, and SIX3. No pathogenic mutations were identified in the OFCD cases. A single PAX6 homeodomain missense mutation was identified in a subject with partial aniridia that had been initially misclassified as coloboma.  (+info)

A case of growth hormone and gonadotropin deficiency associated with unilateral anophthalmia, microphallus, cryptorchidism, and mental retardation. (7/86)

We report a rare case of growth hormone and gonadotropin deficiency associated with dysmorphic features. A 16-year-old boy had left anophthalmia, microphallus, bilateral cryptorchidism, and mental retardation. His chromosomal karyotype was normal, 46, XY. Endocrinological studies revealed growth hormone and gonadotropin deficiency, attributed to hypothalamic dysfunction. Magnetic resonance imaging scan of the head showed a hypoplastic pituitary gland, decreased high intensity signals in the pituitary posterior lobe, absence of the left eye, and a hypoplastic left optic nerve with no abnormality of the pituitary stalk, corpus callosum, or septum pellucidum. Although not completely consistent with the features of septo-optic dysplasia (SOD), his condition was considered within the spectrum of SOD. Despite similarities to the Hesx1 knockout mouse, a model of human SOD, mutation analyses revealed no mutations or polymorphisms in coding regions of any exons or intron-exon boundaries of the HESX1 gene. Further genetic studies of this patient may improve understanding of molecular mechanisms involved in pituitary development.  (+info)

Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region. (8/86)

Anophthalmia or microphthalmia occur in approximately one in 10 children who have severe visual impairment. These eye malformations are often of unknown aetiology, but can be inherited in autosomal dominant, recessive or X-linked forms, and can also occur in association with specific chromosome abnormalities. Four children are described in the medical literature with microphthalmia or anophthalmia in association with chromosome rearrangements involving distal 3q, suggesting the presence of a micro/anophthalmia gene in this region. We have identified two further patients with micro/anophthalmia and chromosome rearrangements involving 3q26-->3q27 and identified a 6.7 MB common deleted region. Patient 1 had multiple abnormalities including bilateral anophthalmia, abnormalities of the first and second cranial nerves and partial absence of the corpus callosum. His karyotype was 46,XY,del(3)(q26.33q28). Patient 2 had right anophthalmia and left extreme microphthalmia. Her karyotype was 46,XX,del(3)(q26.33q28)t(3;7)(q28;q21.1). Both patients had intrauterine growth retardation (IUGR) and strikingly similar dysmorphic facies consisting of bossed forehead, downward-slanting palpebral fissures, grooved bridge of the nose, prominent low-set ears, small down-turned mouth and small mandible. We identified BAC clones mapping to distal 3q from the ENSEMBL and NCBI Entrez databases. These BAC clones were used as fluorescence in situ hybridisation (FISH) probes to identify the minimum deleted region common to both patients. This interval, between clones RPC11-134F2 and RPC11-132N15, was estimated to be 6.7 MB. We conclude that there is an anophthalmia locus within this interval. Candidate genes mapping to this region include Chordin and DVL3, a homologue of the Drosophila Dishevelled gene.  (+info)

*Troglocaris anophthalmus

... anophthalmus anophthalmus (Kollar, 1848)". World Register of Marine Species. Vincenz Kollar (1848). "Ueber ein neues sehr ... Troglocaris anophthalmus is a species of freshwater shrimp in the family Atyidae. It lives in karstic caves in Bosnia and ... Troglocaris anophthalmus. The IUCN Red List of Threatened Species 2013. Downloaded on 14 June 2016. L. B. Holthuis. " ... CS1 maint: Multiple names: authors list (link) Media related to Troglocaris anophthalmus at Wikimedia Commons Charles Fransen ( ...

*Oreonectes anophthalmus

... is a species of ray-finned fish in the Nemacheilidae family. This cavefish is found only in Guangxi and ... Oreonectes anophthalmus. 2006 IUCN Red List of Threatened Species. Downloaded on 19 July 2007.. ...

*Lethata anophthalma

... is a moth of the Depressariidae family. It is found in Brazil (Paraná, Amazonas), Venezuela, Bolivia, ...

*Tasmanipatus anophthalmus

The specific name anophthalmus refers to this species' lack of eyes. The body is entirely white except for the tips of claws ... The blind velvet worm (Tasmanipatus anophthalmus) is a species of velvet worm in the Peripatopsidae family. The species is ... and Tasmanipatus anophthalmus sp. no.: two new and unusual onychophorans (Onychophora: Peripatopsidae) from northeastern ... Onychophora#Conservation New, T.R. (1996). "Tasmanipatus anophthalmus". IUCN Red List of Threatened Species. Retrieved 5 August ...

*Anophthalmus hitleri

... (Slovene: Hitlerjev brezokec) is a species of blind cave beetle found only in five humid caves in Slovenia ...

*Eyeless golden-line fish

The eyeless golden-line fish or blind golden-line barbel (Sinocyclocheilus anophthalmus) is a species of ray-finned fish in the ... 2013). "Sinocyclocheilus anophthalmus" in FishBase. April 2013 version. Romero, A.; Zhao, Y.; Chen, X. (2009). "The hypogean ... Kottelat, M. (1996). "Sinocyclocheilus anophthalmus". The IUCN Red List of Threatened Species. IUCN. 1996: e.T20250A9181609. ...

*Tasmanipatus barretti

and Tasmanipatus anophthalmus sp. no.: two new and unusual onychophorans (Onychophora: Peripatopsidae) from northeastern ...

*Blindness in animals

and Tasmanipatus anophthalmus sp. no.: two new and unusual onychophorans (Onychophora: Peripatopsidae) from northeastern ... Blind cave fish Cave crickets Texas salamanders Blind flatworms Tasmanipatus anophthalmus (blind velvet worm) Typhloperipatus ...

*Oskar Scheibel

He is best remembered for naming in honour of Adolf Hitler - Anophthalmus hitleri in 1937. The beetle is now endangered and ... Scheibel O. (1937). "Ein neuer Anophthalmus aus Jugoslawien". Entomologische Blätter. 33 (6): 438-440. Jozwiak, Piotr; Rewicz, ... most famous beetles that he described as new to science was the now endangered blind cave beetle that he named as Anophthalmus ...

*Tasmanipatus

and Tasmanipatus anophthalmus sp. no.: two new and unusual onychophorans (Onychophora: Peripatopsidae) from northeastern ... The genus contains the following species: Tasmanipatus anophthalmus Ruhberg et al. 1991, the blind velvet worm Tasmanipatus ...

*Anophthalmia

Wiese, K. Günter; Vogel, Martin; Guthoff, Rudolf; Gundlach, Karsten K.H. (1999). "Treatment of congenital anophthalmos with ...

*Duvalius doriae

The French entomologist Leon Fairmaire named this species Anophthalmus doriae in honor of Giacomo Doria. Duvalius doriae doriae ...

*Amydropa

... anophthalma is a species of beetle in the family Silvanidae, the only species in the genus Amydropa. Silvanidae ...

*Fauna of Europe

Among the other peculiarities of the Pyrenean fauna are blind insects in the caverns of Ariège (Anophthalmus, Adelops). The ...

*Nepa (insect)

1758 Nepa anophthalma Decu et al., 1994 N. apiculata is the only extant species found in United States and is widely ... anophthalma_n_sp_Heteroptera_Nepidae_from_a_Sulfurous_Cave_in_Romania 'Nepa' on bugguide.net. ...

*Blind loach

... native to Iran Oreonectes anophthalmus, native to caves in China. ...

*Species description

For example, a species of beetle (Anophthalmus hitleri) was named by a German collector after Adolf Hitler in 1933 when he had ...

*List of ICD-9 codes 740-759: congenital anomalies

Anophthalmos (743.00) Clinical anophthalmos unspecified (743.03) Cystic eyeball congenital (743.06) Cryptophthalmos (743.1) ...

*ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities

Anophthalmos, microphthalmos and macrophthalmos (Q11.0) Cystic eyeball (Q11.1) Other anophthalmos (Q11.2) Microphthalmos (Q11.3 ...

*List of MeSH codes (C16)

... anophthalmos MeSH C16.131.384.190 --- blepharophimosis MeSH C16.131.384.282 --- coloboma MeSH C16.131.384.405 --- ectopia ...

*List of diseases (A)

Anophthalmia short stature obesity Anophthalmia Waardenburg syndrome Anophthalmos Anophthalmos with limb anomalies Anophthalmos ...

*List of MeSH codes (C11)

... anophthalmos MeSH C11.250.090 --- blepharophimosis MeSH C11.250.110 --- coloboma MeSH C11.250.300 --- ectopia lentis MeSH ...

*Stražišče, Kranj

... and has natural populations of the amphipod crustacean Niphargus ilidzensis slovenicus and the ground beetle Anophthalmus ...

*Tridenchthoniidae

Trinidad Typhloditha anophthalma Beier, 1955 - Zaire Typhloditha minima Beier, 1959 - Congo Typhloditha termitophila Beier, ...

*Speluncarius

1900 Speluncarius anophthalmus Reitter, 1886 Speluncarius bericus Monguzzi, 1982 Speluncarius boluensis Schweiger, 1966 ...
Anophthalmia Anophthalmia anophthalmos microphthalmia prosthetic eye evisceration enucleation medical term that describes the lack of eye of occular tissue and globe from the eye
Anophthalmia Anophthalmia anophthalmos microphthalmia prosthetic eye evisceration enucleation medical term that describes the lack of eye of occular tissue and globe from the eye
Anophthalmia Anophthalmia anophthalmos microphthalmia prosthetic eye evisceration enucleation medical term that describes the lack of eye of occular tissue and globe from the eye
Inclusion criteria will consist of affected individuals with unilateral or bilateral microphthalmia/anophthalmia from families with an X-linked mode of transmission. In addition, we may analyze patients with mental retardation with or without eye defects to allow genotype phenotype correlation studies. Parents and siblings will be included for linkage analysis. Unaffected non-transmitting parents may be included to clarify haplotype status. In addition, families with X-linked microphthalmia/anophthalmia with associated anomalies such as Lenz dysplasia and other X-linked microphthalmia/anophthalmia syndromes will be analyzed to determine if these conditions are allelic. Sporadic cases of microphthalmia with or without mental retardation may be considered for study, along with parents and unaffected siblings. Unaffected subjects may also be enrolled if needed for controls.. Specimens from patients collected at outside institutions may be accepted into the study if they were collected under an ...
Sigma-Aldrich offers abstracts and full-text articles by [M E Gallardo, S Rodríguez De Córdoba, A S Schneider, M A Dwyer, C Ayuso, P Bovolenta].
Anophthalmia that describes the lack of eye of occular tissue and globe from the eye. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar hypoplasia.
Anophthalmia that describes the lack of eye of occular tissue and globe from the eye. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar hypoplasia.
Anophthalmia that describes the lack of eye of occular tissue and globe from the eye. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar hypoplasia.
Porex medpor implant Anophthalmia is a medical term that describes the lack of eye of occular tissue and globe from the eye. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure
Anophthalmia medical term that describes the lack of eye of occular tissue and globe from the eye. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar hypoplasia.
Merck & Co., Inc., Kenilworth, NJ, USA is a global healthcare leader working to help the world be well. From developing new therapies that treat and prevent disease to helping people in need, we are committed to improving health and well-being around the world. The Merck Manual was first published in 1899 as a service to the community. The legacy of this great resource continues as the Merck Manual in the US and Canada and the MSD Manual in the remainder of the world. Learn more about our commitment to Global Medical Knowledge.. ...
... - Anophthalmia refers to a complete absence of ocular development. It is often considered to represent the most severe form of microphthalmia. Pathology It
In adults that are born blind, the visual cortex is activated in a similar way during a listening task, according to new research in JNeurosci. The results answer questions about how development can override anatomy to influence brain function.
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Ac-IETD-AFC is a fluorogenic substrate for caspase-8/caspase-3 processing enzyme and granzyme B. It is also a substrate for caspase-10. The IETD sequence is based on casp
Three patients had microphthalmos with cyst in one orbit and contralateral congenital cystic eye, microphthalmos alone, or microphthalmos with cyst. Four eyes were examined histopathologically. The microphthalmic eye demonstrated a spectrum of anterior segment abnormalities, retinal disorganization and gliosis, and a choroidal and scleral colomboma. The cyst connected to the colobona consisted of an outer fibrovascular layer and inner gliotic neuroectodermal layer. The cyst probably originated from proliferation of neuroectodermal tissue at the edge of a persistently open embryonic fissure ...
Intellectual deficit - short stature - microcephaly - eye anomalies information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Exposure of pregnant rats to inhalation of nickel carbonyl on days 7 or 8 of gestation frequently causes the progeny to develop ocular anomalies, including anophthalmia and microphthalmia. The incidence of extraocular anomalies is very low. The specificity of nickel carbonyl for induction of ocular anomalies in rats appears to be unique among known teratogenic agents. ...
The eye derives from three embryologic germ layers. Neuroectoderm gives rise to the optic vesicle; neural crest cells are responsible for migration to the anterior chamber of the developing eye. Ectoderm is responsible for the formation of the lens placode. Neuroectodermal and mesodermal cells participate in the closure of the optic fissure. The variety of cells and tissue types involved explains variability of phenotypic abnormalities of the eye (see Table 29-1) (Warburg, 1993). The embryonic optic fissure is formed from invagination along the inferior aspect of the optic cup and optic stalk at the 5-to-8-mm stage of gestation. This fissure allows the ingress of the hyaloid artery and egress of retinal axons through the optic nerve. In the normal eye, the embryonic optic fissure closes at 33 to 44 days after conception. If the fissure fails to fuse, a defect in the neuroectodermal and uveal tissues will be produced, forming a coloboma. The coloboma is a layer of sclera lined by maldeveloped ...
Skalicky and colleagues conducted a retrospective consecutive case series to document the ocular and systemic findings and inheritance patterns in patients with
The image above shows a patient with microphthalmia and from his gene sequence, it was discovered that the SOX2 gene has been deleted and it is indicated by the red arrow on the image. His parents gene sequence is shown underneath his and shows the presence of the normal SOX2 gene. [36]The SOX-2 gene has been identified as the major causative gene of the two conditions, it is located on the location 3q26.3-q27. It is an important transcription factor responsible for the maintaining self-renewal, or pluripotency, of undifferentiated embryonic stem cells.[32]Although, SOX2 gene mutation is quite rare with an estimated frequency of 1 in 250,000 births, they are still considered the most common genetic cause of anophthalmia and microphthalmia to date. [37]Mutations in the SOX-2 gene is often associated with ocular malformations, they are variable in types but mostly bilateral and severe, it can also lead to mild dysmorphic facial features, genital abnormalities in males, learning disabilities, and ...
tab name="The Case"]Being a keen proto-ophthalmologist you tend to look closely at the eyes of normal dogs coming for routine vaccination. In this Collie-cross dog you see this retinal abnormality. What is it and what does it mean?[/tab][end_tabset] ...
Build: Wed Jun 21 18:33:50 EDT 2017 (commit: 4a3b2dc). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
Symptoms of Microphthalmia syndromic, type 9 including 20 medical symptoms and signs of Microphthalmia syndromic, type 9, alternative diagnoses, misdiagnosis, and correct diagnosis for Microphthalmia syndromic, type 9 signs or Microphthalmia syndromic, type 9 symptoms.
MACS conditions are likely to be caused by a disruption in the way the eye develops in the baby during early pregnancy. This can be due to an alteration in an important gene for eye development, environmental factors - such as drugs or infection in pregnancy - or a combination of the these things. However, while some families have been given a genetic diagnosis, others are no closer to knowing why their child has been affected by MACS and its related conditions.. MACS is supporting the work of specialist eye consultant and geneticist Professor Nicola Ragge, who has been responsible for the discovery of many genes linked to Microphthalmia, Anophthalmia and Coloboma. We are contributing towards the costs of a part-time Family Co-ordinator based at Oxford Brookes University who is responsible for recruiting and liaising with families involved in the research and keeping them up to date on progress and findings in relation to their specific cases.. For more information and to find out how to get ...
Purpose : Microphthalmia, anophthalmia and coloboma (MAC spectrum) are structural ocular disorders that are sources of childhood blindness. These disorders are highly genetically heterogeneous; however, many cases remain without genetic diagnoses. Mutations in MAB21L2 have been previously associated with MAC phenotypes in human patients and confirmed in zebrafish model. This study tested the hypothesis that MAB21L family member, MAB21L1, may also participate in ocular development and contribute to disorders. Methods : We examined 276 human patients with developmental ocular conditions, including MAC spectrum anomalies. Samples were screened by Sanger Sequencing of full-length MAB21L1 coding region. To further study MAB21L1, we utilized zebrafish model to analyze expression and function in development. To do so, we carried out in situ hybridization of 18-72 hpf wild-type embryos using a mab21l1 probe. We also generated mab21l1-deficient lines using TALENs. Results : Human samples revealed one ...
This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008 ...
This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008 ...
Anophthalmia is a medical term that describes the lack of eye of occular tissue and globe from the eye. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar hypoplasia.
A California couples twin boys were born with a rare condition which results in the absence of one or both eyes. Fox40 News in Sacramento reported that the boys, born on May 2, 2014, were born with anophthalmia.
For the PRA-prcd and CEA (OPTIGEN tests), follow these instructions:. • Order a DNA kit from ANTAGENE by telephone :. - PRA-prcd, Progressive Retinal Atrophy : $130. - CEA, Colley Eye Anomaly : $130. • Complete the online form on the Optigen website : http://www.optigen.com/opt9_request.html. • Pay online using a bank card on the Optigen website. • Send ANTAGENE ...
TY - JOUR. T1 - PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. AU - Glaser, Tom. AU - Jepeal, Lisa. AU - Edwards, Janice G.. AU - Young, S. Robert. AU - Favor, Jack. AU - Maas, Richard L.. PY - 1994/8. Y1 - 1994/8. N2 - The human eye malformation aniridia results from haploinsufficiency of PAX6, a paired box DNA-binding protein. To study this dosage effect, we characterized two PAX6 mutations in a family segregating aniridia and a milder syndrome consisting of congenital cataracts and late onset corneal dystrophy. The nonsense mutations, at codons 103 and 353, truncate PAX6 within the N-terminal paired and C-terminal PST domains, respectively. The wild-type PST domain activates transcription autonomously and the mutant form has partial activity. A compound heterozygote had severe craniofacial and central nervous system defects and no eyes. The pattern of malformations is similar to that in homozygous Sey mice and suggests ...
A glycoprotein with an apparent 340,000 mol wt (gp 340K) was isolated from rat kidney saline-soluble extract by ammonium sulfate precipitation, DE 52 ion-exchange cellulose chromatography, concanavalin A affinity column, Sephacryl S-300 gel filtration, and discontinuous polyacrylamide gel electrophoresis (PAGE). The relative purity of gp 340K was examined by double immunodiffusion analysis, disc PAGE, and immunoelectrophoresis. Injection of rabbit gp 340K antiserum into pregnant rats during the organogenetic period induced abnormal embryonic development, fetal growth retardation, and embryonic death. Antiserum against the immunocomplexes isolated by immobilized protein A also produced the same embryotoxic effects. The biologic effects of the antisera appeared to be dose dependent. Defects such as anophthalmia, hydrocephaly, exencephaly, cleft palate, cleft lip, and some cardiovascular anomalies were observed. The most frequently observed anomaly was anophthalmia. Immunofluorescent localization ...
Microphthalmos is a rare congenital anomaly characterized by reduced eye size and visual deficits of variable degrees. Sporadic and hereditary microphthalmos has been associated to heterozygous mutations in genes fundamental for eye development. Yet, many cases are idiopathic or await the identification of molecular causes. Here we show that haploinsufficiency of Meis1, a transcription factor with an evolutionary conserved expression in the embryonic trunk, brain and sensory organs, including the eye, causes microphthalmic traits and visual impairment, in adult mice. By combining the analysis of Meis1 loss-of-function and conditional Meis1 functional rescue with ChIP-seq and RNA-seq approaches we show that, in contrast to Meis1 preferential association with Hox-Pbx binding sites in the trunk, Meis1 binds to Hox/Pbx-independent sites during optic cup development. In the eye primordium, Meis1 coordinates, in a dose-dependent manner, retinal proliferation and differentiation by regulating genes ...
Usage: fossil commit ?OPTIONS? ?FILE...? Create a new version containing all of the changes in the current checkout. You will be prompted to enter a check-in comment unless the comment has been specified on the command-line using -m or a file containing the comment using -M. The editor defined in the editor fossil option (see fossil help set) will be used, or from the VISUAL or EDITOR environment variables (in that order) if no editor is set. All files that have changed will be committed unless some subset of files is specified on the command line. The --branch option followed by a branch name causes the new check-in to be placed in a newly-created branch with the name passed to the --branch option. Use the --branchcolor option followed by a color name (ex: #ffc0c0) to specify the background color of entries in the new branch when shown in the web timeline interface. The use of the --branchcolor option is not recommended. Instead, let Fossil choose the branch color automatically. The ...
Usage: fossil commit ?OPTIONS? ?FILE...? Create a new version containing all of the changes in the current checkout. You will be prompted to enter a check-in comment unless the comment has been specified on the command-line using -m or a file containing the comment using -M. The editor defined in the editor fossil option (see fossil help set) will be used, or from the VISUAL or EDITOR environment variables (in that order) if no editor is set. All files that have changed will be committed unless some subset of files is specified on the command line. The --branch option followed by a branch name causes the new check-in to be placed in a newly-created branch with the name passed to the --branch option. Use the --branchcolor option followed by a color name (ex: #ffc0c0) to specify the background color of entries in the new branch when shown in the web timeline interface. The use of the --branchcolor option is not recommended. Instead, let Fossil choose the branch color automatically. The ...
How to Diagnose Collie Eye in Shelties. Collie eye is more correctly known as Collie Eye Anomaly (CEA) or choroidal hypoplasia. It is an inherited genetic condition present from birth that adversely affects eyesight. Mildly affected...
As his sight fades, his other senses will take over. Ive been taught this by a friends recently adopted dog. He is the result of a merle-to-merle mating, is completely deaf, and before adoption had one eye removed due to a burst ulcer. His remaining eye was thought to have Collie Eye Anomaly (CEA), but was recently found to be completely non-functioning. Never the less, Bear manages more than adequately to get himself around his environment, very rarely does he bump into things, and youre just as likely to find him jumping on a counter top and getting into mischief as any other dog ...
In most cases of microphthalmos with coloboma, there are other abnormalities in the body. However, in the disorder described here, only the eye is abnormal. The diagnosis can be suspected from simple inspection when the normally round pupil has a keyhole shape. This may be the only abnormality but sometimes there are other parts of the body that are involved and it is always important to have a complete eye and physical examination to detect other problems. ...
Description of the drug Balsalazide Disodium. - patient information, description, dosage and directions. What is Balsalazide Disodium!
Semantic Scholar extracted view of Morphogenetic study of congenital ocular malformations in rats, induced by excessive vitamin A, with special reference to exophthalmos. by Takami Miki
Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). (120200) ...
Collie eye anomaly (CEA), a genetic disease which causes improper development of the eye and possible blindness, is a common ailment in the breed. More rarely, Rough Collies can be affected by progressive retinal atrophy (PRA), another genetic disease in which bilateral degeneration of the retina results in progressive vision loss culminating in blindness.[9] Through genetic testing and careful screening program it would be theoretically possible to eradicate both of these problems in purebred lines, however, certainly in the UK, the Kennel Club does not require these tests to be done either for registration or showing. CEA is so prevalent that elimination of affected dogs except through very slow and careful breeding decisions to avoid shrinking the gene pool more than absolutely necessary. Rough Collie puppies should be screened at an early age (6-8 weeks) by a certified veterinary ophthalmologist to check for CEA. PRA has a later onset and can be detected by DNA test, but is much less ...
The word “coloboma” is derived from the Greek word “curtailed”. The word “curtailed” is used medically to describe the absence of normal tissue in the eye since birth. Coloboma affects different parts of the eye like optic nerves, eyelid, macula, and uveal. Let’s look at uveal coloboma in greater detail.
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Tengenestorp local information and maps. Tengenestorp is a populated place in Västra Götaland, Sweden, Europe. Tengenestorp is also known as Tengenedstorp.
το κείμενο με τίτλο THREE TOPICS IN PARALLEL COMMUNICATIONS σχετίζετε με Λογισμικό & κατασκευή λογ/κού
Miller, John G., 1928- "Psychotherapy is not a one size fits all approach. As author John Miller describes in Changing Roles for a New Psychotherapy, all theoretical orientations have their uses and merits in different situations and with different clients. Through a varied personal life and professi…. ...
Purpose : To compare the efficacy of the Permacol™ graft with autologous buccal mucosal graft in socket and eyelid reconstruction, with emphasis on the postoperative vascularization and fibrosis of each graft. Methods : This was a retrospective comparative study. Ten patients underwent Permacol™ graft reconstruction and 44 patients underwent buccal mucosal graft reconstruction. The time necessary for the graft surface to be completely vascularized and the fornix depth of the conjunctival sac in anophthalmic patients was measured. Results : All ten patients in the Permacol group had unilateral contracted anophthalmic sockets. Seven eyelids (70%) in the anophthalmic socket group had a good outcome with improvement in lower eyelid position and prosthesis retention. Nine out of ten eyelids (90%) in this group showed complete vascularization of the graft with minimal fibrosis at 2.6± 1.9 months postoperatively, while the grafted buccal mucosa was fully vascularized at 1.1± 0.3 months ...
There are a number of different conditions that require removal of an eye. The most common of these conditions are when a blind eye becomes painful or when a cancer, such as choroidal melanoma, develops inside an eye.
Orbital cartilage encircles the eye giving strength and support to the neural retina. It is derived from cranial neural crest cells (NCCs), cells that can generate a number of cell types including neurons, glia, and melanocytes. Uniquely in the head, NCCs also make skeletal derivatives that form the majority of the craniofacial skeleton. Differentiation of NCCs into cartilage requires inductive interactions between NCCs and the local environment. The nature of these interactions is largely unknown. We hypothesise that formation of the eye socket requires interactions between the eye and the NCCs during early development. This is supported by evidence in animals and humans where lack of eyes (anophthalmia) or formation of small eyes (microphthalmia) result in craniofacial abnormalities. Orbital cartilage is found in the majority of vertebrates but the ability to induce it has been lost to mammals. A comparison of chick and mouse should help us determine which tissues and molecules are necessary for this
Award winning filmmaker Tim Greene Kick starts blind filmmakers journey to Hollywood through crowd funding.. Elizabeth Harrington is completely blind. She was born with anophthalmia, which means without eyes. Her eyes are prosthetics and she also has cerebral palsy, but she never lets that stop her from fulfilling her dreams. Elizabeth has been working with award winning filmmaker Tim Greene for over six years and has teamed with the filmmaker to document her story of her dreams and goals to go to Hollywood and make a short film and walk the red carpet. The soundtrack for this unique and inspiring documentary will feature singers and musicians with disabilities. If you know of any singers or musicians with disabilities who would like to be considered for the documentarys soundtrack or someone with a disability who has an inspiring story to tell the world and would like to be featured in future series segments, send your video links and bio to: [email protected]. To book the filmmakers for any ...
Tapetal coloration of the fundus of the puppy and kitten is usually gray or blue at 6 to 8 weeks of age, gradually acquiring its adult coloration by 4 to 7 months of age when the tapetum matures. Myelination of the optic disc may also be incomplete in the puppy and kitten, giving the impression of a small, well-defined nerve head that takes on a more fluffy appearance as adult myelination occurs.Both congenital and acquired disorders of the retina and optic nerve are recognized in the young dog and cat. These may be inherited, as with collie eye anomaly, or secondary to postnatal influences, as occurs with canine distemper-induced retinitis. Congenital abnormalities can be diagnosed as early as 6 weeks of age, when the posterior segment is clearly observed. The more common congenital abnormalities of the canine fundus are summarized in Table Congenital Abnormalities of the Canine Fundus. Acquired abnormalities develop with advancing age and in this discussion are limited to those in dogs and ...
Tapetal coloration of the fundus of the puppy and kitten is usually gray or blue at 6 to 8 weeks of age, gradually acquiring its adult coloration by 4 to 7 months of age when the tapetum matures. Myelination of the optic disc may also be incomplete in the puppy and kitten, giving the impression of a small, well-defined nerve head that takes on a more fluffy appearance as adult myelination occurs.Both congenital and acquired disorders of the retina and optic nerve are recognized in the young dog and cat. These may be inherited, as with collie eye anomaly, or secondary to postnatal influences, as occurs with canine distemper-induced retinitis. Congenital abnormalities can be diagnosed as early as 6 weeks of age, when the posterior segment is clearly observed. The more common congenital abnormalities of the canine fundus are summarized in Table Congenital Abnormalities of the Canine Fundus. Acquired abnormalities develop with advancing age and in this discussion are limited to those in dogs and ...
Collies share Collie Eye Anomaly (CEA) with several other breeds it s not just a problem for collies. CEA is more technically known as Choroidal Hypoplasia (CH). It is a recessively inherited eye disorder that causes abnormal development of the choroid - an important layer of tissue under the retina of the eye. This disease is seen most frequently in U.S. collies, but also worldwide in Rough and Smooth Collies, Border Collies, Australian Shepherds, Lancashire Heelers, and Shetland Sheepdogs. Since the choroid layer does not develop normally from the start, the primary abnormality can be diagnosed at a very young age. Regrettably, there is no treatment or cure for CEA. ...
Collies share Collie Eye Anomaly (CEA) with several other breeds it s not just a problem for collies. CEA is more technically known as Choroidal Hypoplasia (CH). It is a recessively inherited eye disorder that causes abnormal development of the choroid - an important layer of tissue under the retina of the eye. This disease is seen most frequently in U.S. collies, but also worldwide in Rough and Smooth Collies, Border Collies, Australian Shepherds, Lancashire Heelers, and Shetland Sheepdogs. Since the choroid layer does not develop normally from the start, the primary abnormality can be diagnosed at a very young age. Regrettably, there is no treatment or cure for CEA. ...
For many years, veterinarians and horse owners have described the collection of eye anomalies associated with silver dapple color as anterior segment dysgenesis (ASD), because of the apparent similarities to anterior segment lesions
in European Journal of Human Genetics (2009), 17(10), 1325-35. Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental ... [more ▼]. Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental retardation. The two syndromes are allelic, caused by mutations in the BCL-6 corepressor gene (BCOR). To extend the series of phenotypes associated with pathogenic mutations in BCOR, we sequenced the BCOR gene in patients with (1) OFCD syndrome, (2) putative X-linked (Lenz) microphthalmia syndrome, (3) isolated ocular defects and (4) laterality phenotypes. We present a new cohort of females with OFCD syndrome and null mutations in BCOR, supporting the hypothesis that BCOR is the sole molecular cause of this syndrome. We ...
Do You Have Coloboma Hair Abnormality? Join friendly people sharing true stories in the I Have Coloboma Hair Abnormality group. Find support forums, advice and chat with groups who share this life experience. A Coloboma Hair Abnormality anonymous sup...
Congenital coloboma is a developmental defect of the eye occurring at embryonic stage. It can involve one or more ocular structures including the cornea,...
Västra Idvattnet local information and maps. Västra Idvattnet is a lake in Västerbottens Län, Sweden, Europe. Vastra Idvattnet is also known as Idvattnet, Vaster Idvattensjon, Väster Idvattensjön.
Introduction: Orthodenticle homeobox 2 (OTX2) is a transcription factor that plays a critical role in brain and eye development. Heterozygous deleterious mutations in this gene lead to eye malformation such as anophthalmia, microphthalmia, coloboma or optic nerve hypoplasia, normal or hypoplastic pituitary gland and normal or ectopic posterior pituitary gland with isolated growth hormone deficiency or combined pituitary hormone deficiency. There is no genotype phenotype correlation. Patients with heterozygous OTX2 deletion without eye or pituitary development anomaly have never been reported.. We report on a 3,2 years old boy with a de novo heterozygous deletion of OTX2 without hormonal deficiency or eye malformation.. Case Report: A boy of 3,2 years- old -boy presented to our pediatric endocrinology unit for short stature. He was born at term after an uneventful pregnancy with 3,010 kg and 50 cm. His development was normal. He has familial Mediterranean fever. Parents are non-consanguineous and ...
Caring for patients with a prosthetic eye can be a challenge to clinicians. Regardless of the circumstances leading to eye removal, inspection of the underlying tissue should be part of a comprehensive eye exam. Maintaining the overall health of the anophthalmic socket is critical in patient comfort and optimal prosthetic fit. Discussions will focus on anophthalmic proce-dures and preparation of the socket for prosthetic fitting. Care and man-agement of the prosthesis and the anophthalmic socket, including associ-ated ocular tissue disorders will be emphasized. The article will enhance the clinicians comfort level managing patients wearing ocular prosthesis ...
La proteína STRA6 (de sus siglas en inglés "stimulated by retinoic acid gene 6 homolog (mouse)") es un receptor celular de la proteína de unión a retinol (vitamina A) y tiene un importante papel en el transporte de dicho retinol a sitios específicos tales como el ojo.[1]​ Algunos estudios han asociado mutaciones de STRA6 con anoftalmía, hernia diafragmática, hipoplasia pulmonar y síndrome de defecto cardíaco.[2]​[3]​ Kawaguchi R, Yu J, Honda J, Hu J, Whitelegge J, Ping P, Wiita P, Bok D, Sun H (2007). «A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A». Science 315 (5813): 820-5. PMID 17255476. doi:10.1126/science.1136244. West B, Bove KE, Slavotinek AM (2009). «Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration». Am J Med Genet A 149A (3): 539-542. PMID 19213032. doi:10.1002/ajmg.a.32682. Segel R, Levy-Lahad E, Pasutto F, Picard E, Rauch A, Alterescu G, Schimmel MS (2009). «Pulmonary ...
Reperant, J.; Miceli, D.; Rio, J.P.; Weidner, C., 1987: The primary optic system in a microphthalmic snake (Calabaria reinhardti)
Symptoms of the following disorders can be similar to those of Lenz microphthalmia syndrome. Comparisons may be useful for a differential diagnosis: Cataract-dental syndrome is an extremely rare inherited disorder that is apparent at birth (congenital). It is characterized by abnormalities of the teeth; ears that are flared forward (anteverted) and unusually prominent; and/or clouding of the lens of the eyes (congenital cataracts), resulting in poor vision. In addition, the front (anterior), clear portion of the eye through which light passes (cornea) may be unusually small (microcornea), the entire eye may be abnormally small (microphthalmia), and/or the eyelids may droop (ptosis); affected individuals may also exhibit involuntary, rapid eye movements (nystagmus). In some cases, additional physical abnormalities and/or mental retardation may also be present. The range and severity of symptoms may vary from case to case. Cataract-dental (Nance-Horan) syndrome is inherited as an X-linked ...
Optic nerve coloboma refers to one of two distinct things:. 1. An abnormal optic nerve that is deeply "excavated" or hollowed out. In some cases it can also be referred to as an optic nerve pit. The optic nerve is the bundle of nerve fibers that relays the light signals from the eye to the brain.. 2. A uveal coloboma that is large enough to involve the optic nerve, either the inferior portion or the entire optic disc.. Read more articles on Coloboma. ...
If a person has an isolated coloboma, they may have normal vision and no symptoms. Sometimes, they may have mild to severe vision impairment. How the affected persons vision is affected depends on where the gap or gaps occur in the eye.
Hello all! First, I want to say this has been my greatest resource for information as a new Cavalier puppy owner. I have been on this forum every night since I got her (almost 5 weeks). I would have introduced myself in the introduce yourself section, but I have far too much to get off my chest and its not appropriate for that forum. My husband and I are the proud, doting, happy, blessed owners of a beautiful ruby Cavalier named Lady. She is almost 5 months old. As much as it is
TMX1 - Tmx1 - Mouse, 4 unique 29mer shRNA constructs in retroviral untagged vector shRNA available for purchase from OriGene - Your Gene Company.
Es un medio diagnóstico para revisar los diferentes sistemas, contribuyendo a la información sobre el control, evolución de una patología o confirmación de elementos externos adentro del cuerpo ...
Cataract surgery in infantile eyes, which are microphthalmic, can be even more demanding.. In addition, the frequent presence of other ocular and systemic anomalies such as nystagmus, glaucoma, amblyopia, and higher rate of postoperative complications may limit the success of cataract surgery.. In our previous study, the investigators examined the intraoperative performance and postoperative outcomes of bilateral cataract surgery in microphthalmic eyes of patients before their first birthday. At 1 year, the postoperative results showed that good visual outcomes could be obtained in microphthalmic eyes.. Since only a few studies have reported outcomes, and that too only short term of cataract surgery on microphthalmic eyes, in this prospective observational study we evaluated the long-term impact of bilateral cataract surgery on eyes with microphthalmos. The investigators examined the outcomes, complication rates, influence of age at surgery on pattern of axial growth and central corneal ...
The authors review the utility of genetic testing in ophthalmic disorders - precise diagnosis, accurate prognosis, genetic counseling, prenatal diagnosis, and entry into gene-specific therapeutic trials. The prerequisites for a successful outcome of a genetic test are an accurate clinical diagnosis, a careful family history that guides which genes to study, and genetic counseling (both pre-test and post-test). The common eye disorders for which genetic testing is commonly requested are briefly discussed - anophthalmia, microphthalmia, coloboma, anterior segment dysgenesis, corneal dystrophies, cataracts, optic atrophy, congenital glaucoma, congenital amaurosis, retinitis pigmentosa, color blindness, juvenile retinoshisis, retinoblastoma etc ...
Uveal coloboma is a rare eye malformation caused by failure of the optic fissure to close during the fifth to seventh weeks of foetal life. The risk of retinal detachment increases with age in colobomatous eyes. Preventive measures such as early detection of the retinal break , prophylactic laser photocoagulation along the coloboma margin, confer a significant benefit in reducing this risk of retinal detachment. Difficulties linked to the diagnosis and management of uveal colobomas in developing countries setting are presented in this study.
Diagram of Eye Rare Diseases that Affect the Eye Anophthalmia and Microphthalmia Biettis Crystalline Dystrophy Behçets Disease Idiopathic Intracranial Hypertension Retinitis Pigmentosa
Cardiomyopathy, Microphthalmos, Myopia Symptom Checker: Possible causes include Congenital Muscular Dystrophy, Melhem-Fahl Syndrome, Mononen-Karnes-Senac Syndrome. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
Rapidly involuting congenital hemangioma (RICH) is an uncommon vascular tumor that, unlike infantile hemangioma, is largely developed at birth and undergoes rapid postnatal involution. To date, RICH has often been described in the setting of an isolated lesion, whereas infantile hemangioma is a well-known feature of numerous syndromes and associations, including the association of posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, and eye anomalies. The authors report a unique case of RICH in the setting of this association. ...
Robbie Crow knows exactly how transformative accessible travel can be. The 28-year-old charity worker was born with two rare conditions, microphthalmia and coloboma, and has been registered as blind
Did you ever see the movie Mean Girls when the main character notes that all girls past the age of puberty seem just to wear lingerie with animals ears for halloween ...
Branchiooculofacial syndrome (BOFS; MIM 113620) is an autosomal dominant developmental disorder characterized by cutaneous defects in the cervical or infra- and/or supra-auricular region, lacrimal duct obstruction, and ocular anomalies such as microphthalmia or anophthalmia, coloboma, ptosis and cataract. Craniofacial features include cleft or pseudocleft lip/palate, dolichocephaly, malformed pinnae, low set ears and broad nasal tip. Additional findings may include inner ear malformations, temporal bone anomalies, conductive, mixed or sensorineural hearing loss, ectopic dermal thymus and various ectodermal anomalies. Growth deficiency, renal anomalies and mild mental retardation are less frequent findings. Intrafamilial clinical variability may be marked. To date, genetic heterogeneity has not been reported. BOFS is caused by mutations in the TFAP2A gene. It codes for transcription factor AP-2-alpha protein, which is a sequence-specific DNA-binding protein that interacts with inducible viral and ...
Know more about Anophthalmia, Microphthalmia, Disfigured eyes, Evisceration of eye, Enucleation and Orbital Exentetration, International Prosthetic Eye Center attracts patients from across the globe due its good work and dedications towards profession, patient fly to Hyderabad from USA, UK, EUROPE, GERMANY, UAE, Kuwait, saudi Arabia, Africa, Nairobi, Nigeria,Indonesia, Singapore,Malaysia, Philippines,Hongkong, Bangladesh, srilanka, Japan, Australia, Newzeland, Aukland, Riyadh, Westindies, Togo, Somalia, Juba, Sudan, Uganda, Kampala, and many part of the world.
Despite a series of challenges and risks, phacoemulsification with IOL implantation proved safe in eyes with microphthalmos and nanophthalmos, according to a study.The retrospective analysis included 103 eyes with axial length less than 21 mm that underwent phacoemulsification and IOL implantation. The median follow-up interval was 6.3 months. Full Story →. ...
Methods In the present study, we report the clinical and molecular delineation of a new form of syndromic autosomal recessive spondylometaphyseal dysplasia (SMD) in two Emirati first cousins. They displayed postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding and intellectual disability. Whole genome homozygosity mapping localised the genetic cause to 11q12.1-q13.1, a region spanning 19.32 Mb with ~490 genes. Using whole exome sequencing, we identified four novel homozygous variants within the shared block of homozygosity. Pathogenic variants in genes involved in phospholipid metabolism, such as PLCB4 and PCYT1A, are known to cause bone dysplasia with or without eye anomalies, which led us to select PLCB3 as a strong candidate. This gene encodes phospholipase C β 3, an enzyme that converts phosphatidylinositol 4,5 bisphosphate (PIP2) to ...
Methods In the present study, we report the clinical and molecular delineation of a new form of syndromic autosomal recessive spondylometaphyseal dysplasia (SMD) in two Emirati first cousins. They displayed postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding and intellectual disability. Whole genome homozygosity mapping localised the genetic cause to 11q12.1-q13.1, a region spanning 19.32 Mb with ~490 genes. Using whole exome sequencing, we identified four novel homozygous variants within the shared block of homozygosity. Pathogenic variants in genes involved in phospholipid metabolism, such as PLCB4 and PCYT1A, are known to cause bone dysplasia with or without eye anomalies, which led us to select PLCB3 as a strong candidate. This gene encodes phospholipase C β 3, an enzyme that converts phosphatidylinositol 4,5 bisphosphate (PIP2) to ...
PHACE association is a rare neurocutaneous condition in which facial hemangiomas associate with a spectrum of posterior fossa malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, and eye anomalies. We reported a case of PHACE
The kitten was born with a condition called Microphthalmia, which apparently is Latin for small eyes . She has abnormally small eye sockets and is completely blind. A friend of mine feeds the feral cats in her neighborhood. The little blind kitten, along with her sister and Mother, showed up a few months ago. Blind kitty was starting to run around on her own and getting dangerously close to the road. So my friend trapped the blind one, followed by the mother and sister about a week later. My friend was looking for a permanent home for at least the blind kitten, but I thought it would be best if she had her sister with her. All three (mother, who is about a year old, and the two female kittens, now about 3 months old) are living in my house, along with my cranky old man cat. I ve had the 3 girls for about a month and the kittens have adjusted well to domesticated life; the mother, not so much ...
1104T,Linkage,and,homozygosity,mapping,identifies,a,14,bp,deletion,in,CHX10,families,with,microphthalmia,brain,atrophy.,K.,Selmer,,G.,D.,Gilfillan,,P.,Strømme,,O.,J.,Kanavin,,T.,Hughes,,Brandal,,R.,Lyle,,E.,Undlien.,1105T,Role,of,Fragile,X,related,proteins,mammalian,circadian,behaviors,glucose,homeostasis.,Lumaban,,Nelson.,1106T,Evaluation,PCR-based,assay,using,sizing,PCR,combination,CGG,repeat,primed,for,FMR1,screening,clinical,setting.,Storm,,N.,Peeters,,W.,Wuyts,,F.,Kooy.,1107T,Functional,characterization,novel,variants,Noonan,syndrome.,Lee,,B.,H.,M.,Kim,,Choi,,Yoo.,1108T,Congenital,diarrheal,disorders:,Translating,whole,exome,sequencing,to,the,clinic.,Yourshaw,,Liu,,S.,Nelson,,Martín.,1109T,Demonstration,interactions,genes,environment,determining,phenotype,genetic,disease,mouse,model,fatty,acid,oxidation,disorder.,Wang,,A.-W.,Mohsen,,Palmfeldt,,Barmada,,Y.,Gregersen,,Vockley.,1110T,Identification,gene,autosomal,dominant,high-grade,myopia,sequencing.,Young,,A.,Powell,,Klemm,,Rozen,,V.,Soler,
1. Guion-Almeida ML, Richieri-Costa A. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?. Clin Dysmorphol. 1999 ;8 :1 -4 2. Wilkie AO, Morriss-Kay GM. Genetics of craniofacial development and malformation. Nat Rev Genet. 2001 ;2 :458 -68 3. Gripp KW. et al. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nature Genetics. 2000 ;25 :205 -8 4. Cohen MM Jr. et al. Hypertelorism: Interorbital growth, measurements, and pathogenetic considerations. Int J Oral Maxillofac Surg. 1995 ;24 :387 -95 5. Guion-Almeida ML, Richieri-Costa A. Alobar Holoprosencephaly Sequence, Anophthalmia, Preauricular Skin Tags, and Pulmonary Hypoplasia. A Previously Undescribed Condition. Clin Dysmorphol. 1999 ;2 (3) :19 -22 6. Guion-Almeida ML, Richieri-Costa A. New Syndrome of Growth and Mental Retardation, Structural Anomalies of the Central Nervous System and First ...
Imaging. Vision should be assessed before pupil dilation through menace response, pupillary light reflexes, falling cotton ball, and obstacle course under different light conditions.. This lecture is restricted to examination of intraocular structures.. The anterior chamber and iris. The anterior chamber should only contain clear fluid, and the iris should be clearly visible. Uveitis with increased cell content of the aqueous humour may cause opacity of the fluid. In mild cases the aqueous look dusty (Tyndall effect). Larger exudates of leucocytes and fibrin may form sterile aggregates (hypopyon) with or without red blood cells present. Especially in the cat, immune complexes may sometimes be seen ventrally on the inside of the cornea as small brownish spots. Haemorrhage in the anterior chamber may be seen in connection with tumours and inflammations, in bleeding disorders, and also in connection with the inherited disease Collie Eye Anomaly.. Pigmentation of the iris varies, often dependent on ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Microphthalmia syndromic 5
Nexium is a medication referred to as a proton force inhibitor that is used to treat and keep remedy for erosive esophagitis (inflammation for.When nexium 40 mg generic buy nexium online less frequently presents with recurrence may occur in by printed texts such esomeprazole 40 mg mobilize immediately.Nexium Cardiovascular 1 nexium 40 mg for sale 2 nexium drug test 3 price for nexium 4 order nexium samples David Halliwell, Pharmacist at LloydPharmacy Douglas has.Scalzo on nexium 20 mg vs 40 mg: an acid-blocker you will experience a rebound.Nexium - Get up-to-date information on Nexium side effects, uses, dosage, overdose, pregnancy, alcohol and more.. How long does it take for mups 20 mg tableter esomeprazole magnesium dihydrate india.NEXIUM - A Staggering Number of Side Effects By Ted Twietmeyer 5-15-7. which included 1,240 patients on NEXIUM 20 mg, 2,434 patients on NEXIUM 40 mg,.Save over 80% on prescriptions, Esomeprazole - obat nexium 20 mg.. How to take 20mg 40mg toronto canada price ...
The phenotype seen in this 14q32 linked family comprises varying degrees of microphthalmia in association with severe anterior segment abnormalities. There is, however, no evidence of coloboma or of anomalies of the lens, vitreous, or retina. While it is possible that altered scleral rigidity in these abnormal eyes may have rendered the Schiotz tonometer readings somewhat inaccurate it seems certain that raised intraocular pressure forms part of this microphthalmia phenotype. Since highly elevated intraocular pressures may be observed even at the age of 1 year it is possible that this may contribute significantly to the progressive corneal changes observed including staphyloma formation. The marked corneal opacity observed at this age (Fig 2A) may be due in part to the raised intraocular pressure, but appears rather too severe to be caused by this alone. Since three eyes belonging to older family members were found to have total sclerocornea it seems likely that corneal changes are a primary ...
Congenital ocular and related anomalies were studied in two unrelated young raccoons. One animal was anophthalmic and had severe anomalies of the central nervous system, consisting of meningoencephalocele, pachygyria, hydranencephaly, cerebellar cavi
Developmental ocular malformations, including anophthalmia-microphthalmia (AM), are heterogeneous disorders with frequent sporadic or non-Mendelian inheritance. Recurrent interstitial deletions of 14q22-q23 have been associated with AM, sometimes with poly/syndactyly and hypopituitarism. We identify two further cases of AM (one with associated pituitary anomalies) with a 14q22-q23 deletion. Using a positional candidate gene approach, we analyzed the BMP4 (Bone Morphogenetic Protein-4) gene and identified a frameshift mutation (c.226del2, p.S76fs104X) that segregated with AM, retinal dystrophy, myopia, brain anomalies, and polydactyly in a family and a nonconservative missense mutation (c.278A--|G, p.E93G) in a highly conserved base in another family. MR imaging and tractography in the c.226del2 proband revealed a primary brain developmental disorder affecting thalamostriatal and callosal pathways, also present in the affected grandmother. Using in situ hybridization in human embryos, we demonstrate
Mutations in human and/or mouse homologs are associated with this disease. Synonyms: coloboma of eye; coloboma of macula; congenital ocular coloboma
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Centers RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.. ...
7. Corine Bertolotto, Karine Bille, Jean-Paul Ortonne, and Robert Ballotti. Regulation of Tyrosinase Gene Expression by cAMP in B16 Melanoma Cells Involves Two CATGTG Motifs Surrounding the TATA Box: Implication of the Microphthalmia Gene Product The Journal of Cell Biology, Volume 134, Number 3, August 1996 747-755 ...
Complete information for RAX2 gene (Protein Coding), Retina And Anterior Neural Fold Homeobox 2, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
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Sinocyclocheilus anophthalmusSinocyclocheilus anophthalmus

... Chen, Chu, Luo & Wu, 1988. Assessment Information [top] Red List Category & Criteria:. Vulnerable ... Sinocyclocheilus anophthalmus. The IUCN Red List of Threatened Species 1996: e.T20250A9181609. . Downloaded on 25 March 2018.. ...
more infohttp://www.iucnredlist.org/details/20250/0

Anophthalmos Clinical Presentation: History, Physical, CausesAnophthalmos Clinical Presentation: History, Physical, Causes

Only when there is a complete absence of the ocular tissue within the orbit can a diagnosis of true anophthalmos be made. ... encoded search term (Anophthalmos) and Anophthalmos What to Read Next on Medscape. Related Conditions and Diseases. * Pituitary ... Anophthalmos Clinical Presentation. Updated: Mar 25, 2016 * Author: Nick Mamalis, MD; Chief Editor: Hampton Roy, Sr, MD more... ... Children with anophthalmos are born with a unilaterally small orbit and no visible ocular tissue within the orbit. [7] ...
more infohttps://emedicine.medscape.com/article/1201354-clinical

Troglocaris anophthalmus - WikipediaTroglocaris anophthalmus - Wikipedia

... anophthalmus anophthalmus (Kollar, 1848)". World Register of Marine Species. Vincenz Kollar (1848). "Ueber ein neues sehr ... Troglocaris anophthalmus is a species of freshwater shrimp in the family Atyidae. It lives in karstic caves in Bosnia and ... Troglocaris anophthalmus. The IUCN Red List of Threatened Species 2013. Downloaded on 14 June 2016. L. B. Holthuis. " ... CS1 maint: Multiple names: authors list (link) Media related to Troglocaris anophthalmus at Wikimedia Commons Charles Fransen ( ...
more infohttps://en.wikipedia.org/wiki/Troglocaris_anophthalmus

Oreonectes anophthalmus - WikipediaOreonectes anophthalmus - Wikipedia

Oreonectes anophthalmus is a species of ray-finned fish in the Nemacheilidae family. This cavefish is found only in Guangxi and ... Oreonectes anophthalmus. 2006 IUCN Red List of Threatened Species. Downloaded on 19 July 2007.. ...
more infohttps://en.wikipedia.org/wiki/Oreonectes_anophthalmus

Sinocyclocheilus anophthalmus,  Eyeless golden-line fishSinocyclocheilus anophthalmus, Eyeless golden-line fish

Sinocyclocheilus anophthalmus Chen, Chu, Luo & Wu, 1988 Eyeless golden-line fish Upload your photos and videos. Pictures , ...
more infohttp://fishbase.us/summary/SpeciesSummary.php?id=6150

Troglocaris (Troglocaris) anophthalmus subsp. anophthalmus Jugovic, Jalžić, Prevorčnik & Sket, 2012, s. str. - Plazi...Troglocaris (Troglocaris) anophthalmus subsp. anophthalmus Jugovic, Jalžić, Prevorčnik & Sket, 2012, s. str. - Plazi...

Troglocaris (Troglocaris) anophthalmus anophthalmus ( Kollar, 1848) Edit. Synonymy: Palaemon anophthalmus Kollar, 1848 Edit. ; ... Troglocaris (Troglocaris) anophthalmus anophthalmus ( Kollar, 1848 ) Jugovic, Jure, Jalžić, Branko, Prevorčnik, Simona & Sket, ... Diagnosis: Subspecies of T. (T.) anophthalmus Edit. with completely reduced eye and body pigmentation. Rostrum length variable ... FIGURE 2. Troglocaris (Troglocaris) anophthalmus, Kompoljska jama, Kompolje, Videm - Dobrepolje, male (TA 966), CL 7.5 mm: B, ...
more infohttp://tb.plazi.org/GgServer/html/E02687A1690FFFA3FF2F49F5FBA46C3B

Anophthalmos with limb anomalies             | Genetic and Rare Diseases Information Center (GARD) - an NCATS ProgramAnophthalmos with limb anomalies | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program

... disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Anophthalmos ... Anophthalmos with limb anomalies Title Other Names:. Anophthalmia Waardenburg syndrome; Waardenburg anophthalmia syndrome; ... Anophthalmos-syndactyly; Anophthalmia Waardenburg syndrome; Waardenburg anophthalmia syndrome; Anophthalmos-syndactyly; ... Genetics Home Reference (GHR) contains information on Anophthalmos with limb anomalies. This website is maintained by the ...
more infohttps://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=cluster&id=23987

Lisa Mansueto | Anophthalmia | anophthalmos  | microphthalmia | prosthetic | eye evisceration | enucleation lack of eye of...Lisa Mansueto | Anophthalmia | anophthalmos | microphthalmia | prosthetic | eye evisceration | enucleation lack of eye of...

Anophthalmia Anophthalmia anophthalmos microphthalmia prosthetic eye evisceration enucleation medical term that describes the ... True or primary anophthalmos is very rare. Only when there is complete absence of the ocular tissue within the orbit can the ... diagnosis of true anophthalmos be made. Extreme microphthalmos is seen more commonly. In this condition, a very small globe is ...
more infohttps://drmansueto.com/anophthalmos-loss-of-an-eye-or-anophthalmia.html

Tamara Fountain, MD | Anophthalmia | anophthalmos  | microphthalmia | prosthetic | eye evisceration | enucleation lack of eye...Tamara Fountain, MD | Anophthalmia | anophthalmos | microphthalmia | prosthetic | eye evisceration | enucleation lack of eye...

Anophthalmia Anophthalmia anophthalmos microphthalmia prosthetic eye evisceration enucleation medical term that describes the ... True or primary anophthalmos is very rare. Only when there is complete absence of the ocular tissue within the orbit can the ... diagnosis of true anophthalmos be made. Extreme microphthalmos is seen more commonly. In this condition, a very small globe is ...
more infohttps://drfountain.com/anophthalmos-loss-of-an-eye-or-anophthalmia.html

Lisa Mansueto | Ocular implants | Anophthalmia | anophthalmos|  microphthalmia | prosthetic eye | evisceration |enucleation |...Lisa Mansueto | Ocular implants | Anophthalmia | anophthalmos| microphthalmia | prosthetic eye | evisceration |enucleation |...

Anophthalmia that describes the lack of eye of occular tissue and globe from the eye. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar hypoplasia.
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Drs. Dale Meyer & Edward Wladis | Anophthalmia | anophthalmos  | microphthalmia | prosthetic | eye evisceration | enucleation...Drs. Dale Meyer & Edward Wladis | Anophthalmia | anophthalmos | microphthalmia | prosthetic | eye evisceration | enucleation...

Anophthalmia Anophthalmia anophthalmos microphthalmia prosthetic eye evisceration enucleation medical term that describes the ... True or primary anophthalmos is very rare. Only when there is complete absence of the ocular tissue within the orbit can the ... diagnosis of true anophthalmos be made. Extreme microphthalmos is seen more commonly. In this condition, a very small globe is ...
more infohttps://doctormeyer.com/anophthalmos-loss-of-an-eye-or-anophthalmia.html

Mark Ruchman, MD | Ocular implants | Anophthalmia | anophthalmos|  microphthalmia | prosthetic eye | evisceration |enucleation ...Mark Ruchman, MD | Ocular implants | Anophthalmia | anophthalmos| microphthalmia | prosthetic eye | evisceration |enucleation ...

Anophthalmia that describes the lack of eye of occular tissue and globe from the eye. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar hypoplasia.
more infohttps://drmarkruchman.com/ocular-implants-silicone-hydroxyapatite-medpor-bio-ceramic.html

Jason Aaron Sokol, MD | Ocular implants | Anophthalmia | anophthalmos|  microphthalmia | prosthetic eye | evisceration ...Jason Aaron Sokol, MD | Ocular implants | Anophthalmia | anophthalmos| microphthalmia | prosthetic eye | evisceration ...

Anophthalmia that describes the lack of eye of occular tissue and globe from the eye. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar hypoplasia.
more infohttps://drjasonsokol.com/ocular-implants-silicone-hydroxyapatite-medpor-bio-ceramic.html

2018/2019 Present On Admission Exempt ICD-10-CM Codes, Page 5/3702018/2019 Present On Admission Exempt ICD-10-CM Codes, Page 5/370

Other anophthalmos. 2016 2017 2018 2019 Billable/Specific Code POA Exempt Applicable To*Anophthalmos NOS ...
more infohttps://www.icd10data.com/ICD10CM/Codes/Rules/Present_On_Admission_Exempt/5

2020 ICD-10-CM Index | Absence2020 ICD-10-CM Index | 'Absence'

Other anophthalmos. 2016 2017 2018 2019 2020 Billable/Specific Code POA Exempt Applicable To*Anophthalmos NOS ... Other anophthalmos. 2016 2017 2018 2019 2020 Billable/Specific Code POA Exempt Applicable To*Anophthalmos NOS ...
more infohttps://www.icd10data.com/ICD10CM/Index/A/Absence

Eye Care Services at UCSD Shiley Eye CenterEye Care Services at UCSD Shiley Eye Center

Anophthalmos *Asian Eyelid Enhancement *Baggy or Puffy Eyes *Blind and Painful Eye ...
more infohttps://health.ucsd.edu/specialties/eyes/eyecareservices/Pages/default.aspx

Antenatal and postnatal diagnoses of visible congenital malformations in a sub-Saharan African setting: a prospective...Antenatal and postnatal diagnoses of visible congenital malformations in a sub-Saharan African setting: a prospective...

Background Visible congenital malformations (VCMs) are one of the principal causes of disability in the world. Prenatal diagnosis is a paramount mandatory integral part of the follow up of pregnancies...
more infohttps://link.springer.com/article/10.1186%2Fs12887-019-1831-x

congenital malformation | babyMed.comcongenital malformation | babyMed.com

Anophthalmos / Microphthalmos. Infants born with orbital tissue missing from one or both eyes, they are diagnosed with ...
more infohttps://www.babymed.com/tag/congenital-malformation

CARBAMAZEPINE - carbamazepine suspensionCARBAMAZEPINE - carbamazepine suspension

... anophthalmos, 2). In reproduction studies in rats, nursing offspring demonstrated a lack of weight gain and an unkempt ...
more infohttps://dailymed.nlm.nih.gov/dailymed/fda/fdaDrugXsl.cfm?setid=b0655a23-fea0-4a8c-aec2-e0e636528eb1&type=display

Tegretol®Tegretol®

... anophthalmos, 2). In reproduction studies in rats, nursing offspring demonstrated a lack of weight gain and an unkempt ...
more infohttps://dailymed.nlm.nih.gov/dailymed/archives/fdaDrugInfo.cfm?archiveid=41663

Sinai Hospital Ophthalmology Oculofacial Fellowship | SinaiSinai Hospital Ophthalmology Oculofacial Fellowship | Sinai

The Krieger Eye Institute is privileged to offer one of only 36 approved American Society of Ophthalmic Plastic and Reconstructive Surgery (ASOPRS) Oculofacial Fellowships in the United States.
more infohttp://www.lifebridgehealth.org/Sinai/SinaiHospitalOphthalmologyOculofacialFellowship.aspx

Department of Ophthalmology Oculofacial Fellowship | SinaiDepartment of Ophthalmology Oculofacial Fellowship | Sinai

The KEI Oculofacial Fellowship will provide a diverse and high- volume clinical experience in all aspects of oculofacial surgery. This will include exposure to eyelid malpositions, lacrimal disease, orbital disease, trauma (eyelid, orbital and facial), neoplasms (eyelid, orbital and facial), Graves disease, aesthetic surgery and lasers. The fellows time will be divided between clinic and surgical duties. The fellow will have wide exposure to all aspects of oculofacial diseases and surgeries. Emphasis will be placed on developing advanced medical diagnostic and problem-solving skills, combined with an individualized approach to surgery. The fellow will be trained in multiple surgical approaches to each individual condition - understanding that no one surgical technique can be applied to all patients with a given problem. In addition, the fellow will have the unique opportunity to train in orbital applications of the Cyberknife® stereotactic radiosurgical system for non-invasive treatment of ...
more infohttp://www.lifebridgehealth.org/Sinai/DepartmentofOphthalmologyOculofacialFellowship4.aspx

The importance of developmental timing in cortical specification.The importance of developmental timing in cortical specification.

Anophthalmos / physiopathology. Cell Differentiation. Cerebral Cortex / embryology*. Embryonic and Fetal Development. Eye ...
more infohttp://www.biomedsearch.com/nih/importance-developmental-timing-in-cortical/8087537.html

Dr. Guy G Massry MD Reviews | Beverly Hills, CA | Vitals.comDr. Guy G Massry MD Reviews | Beverly Hills, CA | Vitals.com

Anophthalmos * Eye Exam * Blindness * Plastic Surgery (Cosmetic & Reconstructive Surgery) * Cataract Dr. Guy G Massry has 1 ...
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Cyclops (genus) - WikipediaCyclops (genus) - Wikipedia

Cyclops anophthalmus Joseph, 1882. *Cyclops argulus (Fabricius, 1793). *Cyclops armatus Tilesius, 1815 ...
more infohttps://en.wikipedia.org/wiki/Cyclops_
  • Infants born with orbital tissue missing from one or both eyes, they are diagnosed with Anophthalmos. (babymed.com)