Made by DATEXIS (Data Science and Text-based Information Systems) at Beuth University of Applied Sciences Berlin
Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
Blurry vision may result from any number of conditions not necessarily related to refractive errors. The diagnosis of a refractive error is usually confirmed by an eye care professional during an eye examination using a large number of lenses of different optical powers, and often a retinoscope (a procedure entitled "retinoscopy") to measure objectively in which the patient views a distant spot while the clinician changes the lenses held before the patient's eye and watches the pattern of reflection of a small light shone on the eye. Following that "objective refraction" the clinician typically shows the patient lenses of progressively higher or weaker powers in a process known as "subjective refraction".
Cycloplegic agents are frequently used to more accurately determine the amount of refractive error, particularly in children
An automated refractor is an instrument that is sometimes used in place of retinoscopy to objectively estimate a person's refractive error. Shack–Hartmann wavefront sensor and its inverse can also be used to characterize eye aberrations in a higher level of resolution and accuracy.
Vision defects caused by refractive error can be distinguished from other problems using a pinhole occluder, which will improve vision only in the case of refractive error.
Some suggest that more time spent outdoors during childhood is effective for prevention.
Various methods have been employed in an attempt to decrease the progression of myopia, although studies show mixed results. Many myopia treatment studies have a number of design drawbacks: small numbers, lack of adequate control group, and failure to mask examiners from knowledge of treatments used.
A diagnosis of myopia is typically made by an eye care professional, usually an optometrist or ophthalmologist. During a refraction, an autorefractor or retinoscope is used to give an initial objective assessment of the refractive status of each eye, then a phoropter is used to subjectively refine the patient's eyeglass prescription. Other types of refractive error are hyperopia, astigmatism, and presbyopia.
Hyperopia is typically classified according to clinical appearance, its severity, or how it relates to the eye's accommodative status.
There are three clinical categories of hyperopia.
- Simple hyperopia
- Pathological hyperopia
- Functional hyperopia
There are also three categories severity:
- Low
- Moderate
- High
Other common types of refractive errors are near-sightedness, astigmatism, and presbyopia.
How refractive errors are treated or managed depends upon the amount and severity of the condition. Those who possess mild amounts of refractive error may elect to leave the condition uncorrected, particularly if the patient is asymptomatic. For those who are symptomatic, glasses, contact lenses, refractive surgery, or a combination of the three are typically used.
Strategies being studied to slow worsening include adjusting working conditions, increasing the time children spend outdoors, and special types of contact lenses. In children special contact lenses appear to slow worsening of nearsightedness.
A diagnosis of far-sightedness can be made via a slit lamp test which examines the cornea, conjunctiva, and iris.
In severe cases of hyperopia from birth, the brain has difficulty in merging the images that each individual eye sees. This is because the images the brain receives from each eye are always blurred. A child with severe hyperopia can never see objects in detail. If the brain never learns to see objects in detail, then there is a high chance of one eye becoming dominant. The result is that the brain will block the impulses of the non-dominant eye. In contrast, the child with myopia can see objects close to the eye in detail and does learn at an early age to see detail in objects.
Corrective lenses provide a range of vision correction, some as high as +4.0 diopter. Some with presbyopia choose varifocal or bifocal lenses to eliminate the need for a separate pair of reading glasses; specialized preparations of varifocals or bifocals usually require the services of an optometrist. Some newer bifocal or varifocal spectacle lenses attempt to correct both near and far vision with the same lens.
Contact lenses can also be used to correct the focusing loss that comes along with presbyopia. Multifocal contact lenses can be used to correct vision for both the near and the far. Some people choose contact lenses to correct one eye for near and one eye for far with a method called monovision.
New surgical procedures may also provide solutions for those who do not want to wear glasses or contacts, including the implantation of accommodative intraocular lenses. INTRACOR has now been approved in Europe for treatment of both eyes (turning both corneas into multifocal lenses and so dispensing with the need for reading glasses).
Another treatment option for the correction of presbyopia in patients with emmetropia, as well as in patients with myopia, hyperopia and astigmatism is laser blended vision. This procedure uses laser refractive surgery to correct the dominant eye mainly for distance vision and the nondominant eye mainly for near vision, while the depth of field (i.e. the range of distances at which the image is in focus) of each eye is increased. As a result of the increased depth of field, the brain merges the two images, creating a blend zone, i.e. a zone which is in focus for both eyes. This allows the patient to see near, intermediate and far without glasses. Some literature also suggests the benefits achieved include the brain learning to adapt, assimilating two images, one of which is out of focus. Over time, many patients report they are unaware one eye is out of focus.
Surgically implanted corneal inlays are another treatment option for presbyopia. Corneal inlays typically are implanted in the nondominant eye to minimize impact to binocular uncorrected distance vision. They seek to improve near vision in one of three ways: changing the central refractive index, increasing the depth of focus through the use of a pinhole, and reshaping the central cornea.
Binoculars, telescopes, and microscopes induce an experience of extreme tunnel vision due to the design of the optical components. A wide field microscope or telescope generally requires much larger diameter and thicker lenses, or complex parabolic mirror assemblies, either of which results in significantly greater cost for construction of the optical device.
Wide-field binoculars are possible, but require bulkier, heavier, and more complex eyepieces. The diameter of the objective lenses is unimportant for field of view. The widest-angle eyepieces used in telescopes are so large that two would not fit side-by-side for use in binoculars.
Activities which require a protective mask, safety goggles, or fully enclosing protective helmet can also result in an experience approximating tunnel vision. Underwater diving masks using a single flat transparent lens usually have the lens surface several centimeters from the eyes. The lens is typically enclosed with an opaque black rubber sealing shell to keep out water. For this type of mask the peripheral field of the diver is extremely limited. Generally, the peripheral field of a diving mask is improved if the lenses are as close to the eye as possible, or if the lenses are large, multi-window, or is a curved wrap-around design.
Protective helmets such as a welding helmet restrict vision to an extremely small slot or hole, with no peripheral perception at all. This is done out of necessity so that ultraviolet radiation emitted from the welding arc does not damage the welder's eyes due to reflections off of shiny objects in the peripheral field.
Aphakia is the absence of the lens of the eye, due to surgical removal, a perforating wound or ulcer, or congenital anomaly. It causes a loss of accommodation, far sightedness (hyperopia), and a deep anterior chamber. Complications include detachment of the vitreous or retina, and glaucoma.
Babies are rarely born with aphakia. Occurrence most often results from surgery to remove congenital cataract (clouding of the eye's lens, which can block light from entering the eye and focusing clearly). Congenital cataracts usually develop as a result of infection of the fetus or genetic reasons. It is often difficult to identify the exact cause of these cataracts, especially if only one eye is affected.
People with aphakia have relatively small pupils and their pupils dilate to a lesser degree.
Without the focusing power of the lens, the eye becomes very farsighted. This can be corrected by wearing glasses, contact lenses, or by implant of an artificial lens. Artificial lenses are described as "pseudophakic." Also, since the lens is responsible for adjusting the focus of vision to different lengths, patients with aphakia have a total loss of accommodation.
Some individuals have said that they perceive ultraviolet light, invisible to those with a lens, as whitish blue or whitish-violet.
Telecanthus is often associated with many congenital disorders. Congenital disorders such as Down syndrome, fetal alcohol syndrome, Cri du Chat syndrome, Klinefelter syndrome, Turner syndrome, Ehlers-Danlos syndrome, Waardenburg syndrome often present with prominent epicanthal fold and if these folds are nasal (most commonly are) they will cause telecanthus.
Fig of the used terms
Telecanthus (from the Greek word "tele" (τῆλε) meaning far, and the Latin word canthus, meaning either corner of the eye, where the eyelids meet) refers to increased distance between the medial canthi of the eyes, while the inter-pupillary distance is normal. This is in contrast to hypertelorism, where the inter-pupillary distance is increased.
The distance between the inner corner of the left eye and the inner corner of the right eye, is called intercanthal distance. In most people, the intercanthal distance is equal to the distance between the inner corner and the outer corner of each eye, that is, the width of the eye. The average interpupillary distance is 60–62 millimeters (mm), which corresponds to an intercanthal distance of approximately 30–31 mm. The situation, where intercanthal distance is intensely bigger than the width of the eye, is called telecanthus (tele= Greek τηλε = far, and Greek ακανθα = thorn). This can be an ethnic index or an indication for hypertelorism or hypotelorism, if it is combined with abnormal relation to the interpupillary distance (A D STEAS).
"Traumatic Telecanthus" refers to telcanthus resulting from traumatic injury to the nasal-orbital-ethmoid (NOE) complex. The diagnosis of traumatic telecanthus requires a measurement in excess of those normative values. The pathology can be either unilateral or bilateral, with the former more difficult to measure.
Epicanthic folds appear in East Asians, Southeast Asians, Central Asians, North Asians, some South Asians, Polynesians, Micronesians, Indigenous Americans (as well as Mestizos), the Khoisan, Malagasy, occasionally Europeans (e.g., Scandinavians, Hungarians, Samis, Irish and Poles) and among Nilotes.
Anthropologist Carleton S. Coon states that the "median fold" occurs in Finnic and Slavic populations, while the "true inner or mongoloid fold" appears in populations of the east and the far north.
The epicanthic fold is the skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. One of the primary facial features that are often closely associated with the epicanthic fold is elevation of the nasal bridge. There are various factors that influence whether epicanthic folds are formed, including ancestry, age, and certain medical conditions.
Knobloch syndrome is a rare genetic disorder presenting severe eyesight problems and often a defect in the skull. It was named after W.H. Knobloch, who first described the syndrome in 1971. A usual occurrence is a degeneration of the vitreous humour and the retina, two components of the eye. This breakdown often results in the separation of the retina (the light-sensitive tissue at the back of the eye) from the eye, called retinal detachment, which can be recurrent. Extreme myopia (near-sightedness) is a common feature. The limited evidence available from electroretinography suggests a cone-rod pattern of dysfunction is also a feature.
Knobloch syndrome is caused by mutations in an autosomal recessive inherited gene. These mutations have been found in the COL18A1 gene that instructs for the formation of a protein that builds collagen XVIII. This type of collagen is found in the basement membranes of various body tissues. Its deficiency in the eye is thought to be responsible for affecting normal eye development. There are two types of Knobloch syndrome and the case has been made for a third.
When caused by mutations in the COL18A1 gene it is called Knobloch syndrome type 1. The genes causing types II and III have yet to be identified.
Knobloch syndrome is also characterised by cataracts, dislocated lens with skull defects such as occipital encephalocele and occipital aplasia. Encephalocele is a neural tube defect where the skull has not completely closed and sac-like protrusions of the brain can push through the skull; (it can also result from other causes).
In Knobloch’s syndrome this is usually seen in the occipital region, and aplasia is the underdevelopment of tissue again in this reference in the occipital area.
A combination of medical tests are used to diagnosis kniest dysplasia. These tests can include:
- Computer Tomography Scan(CT scan) - This test uses multiple images taken at different angles to produce a cross-sectional image of the body.
- Magnetic Resonance Imaging (MRI) - This technique proves detailed images of the body by using magnetic fields and radio waves.
- EOS Imaging - EOS imaging provides information on how musculoskeletal system interacts with the joints. The 3D image is scanned while the patient is standing and allows the physician to view the natural, weight-bearing posture.
- X-rays - X-ray images will allow the physician to have a closer look on whether or not the bones are growing abnormally.
The images taken will help to identify any bone anomalies. Two key features to look for in a patient with kniest dysplasia is the presence of dumb-bell shaped femur bones and coronal clefts in the vertebrae. Other features to look for include:
- Platyspondyly (flat vertebral bodies)
- Kyphoscoliosis (abnormal rounding of the back and lateral curvature of the spine)
- Abnormal growth of epiphyses, metaphyses, and diaphysis
- Short tubular bones
- Narrowed joint spaces
Genetic Testing - A genetic sample may be taken in order to closely look at the patient's DNA. Finding an error in the COL2A1 gene will help identify the condition as a type II chondroldysplasia.
Diagnosis may be suspected on the basis of the clinical and radiologic findings, and can supported by molecular analysis of the SHOX, SHOXY and PAR1 genes.
May also be suspected by ultrasound during the second trimester of gestation.
There is no specific treatment for micro syndrome, but there are ways to help the disorders, and illnesses that come with it. Many individuals with Micro Syndrome need permanent assistance from their disorders and inabilities to move and support themselves. Seizures are not uncommon and patients should get therapy to help control them, and many patients also require wheelchairs to move, so an assistant would be needed at all times.
Those with micro syndrome are born appearing normal. At the age of one, mental and physical delays become apparent, along with some limb spasms. By the age of eight micro syndrome has already set in, and the patient will have joint contractures, Ocular Atrophy will become noticeable, the patient will most likely lose ability to walk, speak, and sometimes move at all.
Because kniest dysplasia can affect various body systems, treatments can vary between non-surgical and surgical treatment. Patients will be monitored over time, and treatments will be provided based on the complications that arise.
Diagnostic criteria of Marfan syndrome were agreed upon internationally in 1996. A diagnosis of Marfan syndrome is based on family history and a combination of major and minor indicators of the disorder, rare in the general population, that occur in one individualfor example: four skeletal signs with one or more signs in another body system such as ocular and cardiovascular in one individual. The following conditions may result from Marfan syndrome, but may also occur in people without any known underlying disorder.
- Aortic aneurysm or dilation
- Arachnodactyly
- GERD
- Bicuspid aortic valve
- Cysts
- Cystic medial necrosis
- Degenerative disk disease
- Deviated septum
- Dural ectasia
- Early cataracts
- Early glaucoma
- Early osteoarthritis
- Ectopia lentis
- Emphysema
- Eye iris coloboma
- Above-average height
- Heart palpitations
- Hernias
- High-arched palate
- Hypermobility of the joints
- Kyphosis (hunched back)
- Leaky heart valve
- Malocclusion
- Micrognathia (small lower jaw)
- Mitral valve prolapse
- Myopia (near sightedness)
- Obstructive lung disease
- Osteopenia (low bone density)
- Pectus carinatum or excavatum
- Pes planus (flat feet)
- Pneumothorax (collapsed lung)
- Retinal detachment
- Scoliosis
- Sleep apnea
- Stretch marks not from pregnancy or obesity
- Teeth crowded
- "Narrow, thin face"
- Temporomandibular joint dysfunction (TMD)
In 2010 the Ghent nosology was revised, and new diagnostic criteria superseded the previous agreement made in 1996. The seven new criteria can lead to a diagnosis:
In the absence of a family history of MFS:
1. Aortic root Z-score ≥ 2 AND ectopia lentis
2. Aortic root Z-score ≥ 2 AND an FBN1 mutation
3. Aortic root Z-score ≥ 2 AND a systemic score* > 7 points
4. Ectopia lentis AND an FBN1 mutation with known aortic pathology
In the presence of a family history of MFS (as defined above):
1. Ectopia lentis
2. Systemic score* ≥ 7
3. Aortic root Z-score ≥ 2
- Points for systemic score:
- Wrist AND thumb sign = 3 (wrist OR thumb sign = 1)
- Pectus carinatum deformity = 2 (pectus excavatum or chest asymmetry = 1)
- Hindfoot deformity = 2 (plain pes planus = 1)
- Dural ectasia = 2
- Protrusio acetabuli = 2
- pneumothorax = 2
- Reduced upper segment/lower segment ratio AND increased arm/height AND no severe scoliosis = 1
- Scoliosis or thoracolumbar kyphosis = 1
- Reduced elbow extension = 1
- Facial features (3/5) = 1 (dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia)
- Skin striae (stretch marks) = 1
- Myopia > 3 diopters = 1
- Mitral valve prolapse 1⁄4 1
The thumb sign (Steinberg's sign) is elicited by asking the patient to flex the thumb as far as possible and then close the fingers over it. A positive thumb sign is where the entire distal phalanx is visible beyond the ulnar border of the hand, caused by a combination of hypermobility of the thumb as well as a thumb which is longer than usual.
The wrist sign (Walker's sign) is elicited by asking the patient to curl the thumb and fingers of one hand around the other wrist. A positive wrist sign is where the little finger and the thumb overlap, caused by a combination of thin wrists and long fingers.
Micro syndrome can be identified in people several ways, one of the most common is ocular problems or other physical traits that don't appear natural. It is especially easy to identify micro syndrome in infants and in younger children. Intellectual or developmental disabilities can seriously affect a patient in the way they think and move. So far according to studies all patients have had serious intellectual or developmental disabilities, and hypotonia is found in all the patients during infancy.
A supernumerary nipple (also known as a third nipple, triple nipple, accessory nipple, polythelia or the related condition: polymastia) is an additional nipple occurring in mammals, including humans. Often mistaken for moles, supernumerary nipples are diagnosed in humans at a rate of approximately 1 in 18 people.
The nipples appear along the two vertical "milk lines," which start in the armpit on each side, run down through the typical nipples and end at the groin. They are classified into eight levels of completeness from a simple patch of hair to a milk-bearing breast in miniature.
"Polythelia" refers to the presence of an additional nipple alone while "polymastia" denotes the much rarer presence of additional mammary glands.
Although usually presenting on the milk line, pseudomamma can appear as far away as the foot.
A possible relationship with mitral valve prolapse has been proposed.