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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)
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In studies of the genetic predisposition of refractive error, there is a correlation between environmental factors and the risk of developing myopia. Myopia has been observed in individuals with visually intensive occupations. Reading has also been found to be a predictor of myopia in children. It has been reported that children with myopia spent significantly more time reading than non-myopic children who spent more time playing outdoors. Socioeconomic status and higher levels of education have also been reported to be a risk factor for myopia.
A determination of the prevalence of anisometropia has several difficulties. First of all, the measurement of refractive error may vary from one measurement to the next. Secondly, different criteria have been employed to define anisometropia, and the boundary between anisometropia and isometropia depend on their definition.
Several studies have found that anisometropia occurs more frequently and tends to be more severe for persons with high ametropia, and that this is particularly true for myopes. Anisometropia follows a U-shape distribution according to age: it is frequent in infants aged only a few weeks, is more rare in young children, comparatively more frequent in teenagers and young adults, and more prevalent after presbyopia sets in, progressively increasing into old age.
One study estimated that 6% of those between the ages of 6 and 18 have anisometropia.
Notwithstanding research performed on the biomechanical, structural and optical characteristics of anisometropic eyes, the underlying reasons for anisometropia are still poorly understood.
Anisometropic persons who have strabismus are mostly far-sighted, and almost all of these have (or have had) esotropia. However, there are indications that anisometropia influences the long-term outcome of a surgical correction of an inward squint, and vice versa. More specifically, for patients with esotropia who undergo strabismus surgery, anisometropia may be one of the risk factors for developing consecutive exotropia and poor binocular function may be a risk factor for anisometropia to develop or increase.
The yearly cost of correcting refractive errors is estimated at 3.9 to 7.2 billion dollars in the United States.
In one study, heredity was an important factor associated with juvenile myopia, with smaller contributions from more near work, higher school achievement, and less time in sports activity.
Long hours of exposure to daylight appears to be a protective factor. Lack of outdoor play could be linked to myopia.
Other personal characteristics, such as value systems, school achievements, time spent in reading for pleasure, language abilities, and time spent in sport activities all correlated to the occurrence of myopia in studies.
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.
Strabismus can be seen in Down syndrome, Loeys-Dietz syndrome, cerebral palsy, and Edwards syndrome. The risk is increased among those with a family history of the condition.
Hypertropia may be either congenital or acquired, and misalignment is due to imbalance in extraocular muscle function. The superior rectus, inferior rectus, superior oblique, and inferior oblique muscles affect the vertical movement of the eyes. These muscles may be either paretic, restrictive (fibrosis) or overactive effect of the muscles. Congenital cases may have developmental abnormality due to abnormal muscle structure, usually muscle atrophy / hypertrophy or rarely, absence of the muscle and incorrect placement.
Specific & common causes include:
- Superior oblique Palsy / Congenital fourth nerve palsy
- Inferior oblique overaction
- Brown's syndrome
- Duane's retraction syndrome
- Double elevator palsy
- Fibrosis of rectus muscle in Graves Disease (most commonly inferior rectus is involved)
- Surgical trauma to the vertical muscles (e.g. during scleral buckling surgery or cataract surgery causing iatrogenic trauma to the vertical muscles).
Sudden onset hypertropia in a middle aged or elderly adult may be due to compression of the trochlear nerve and mass effect from a tumor, requiring urgent brain imaging using MRI to localise any space occupying lesion. It could also be due to infarction of blood vessels supplying the nerve, due to diabetes and atherosclerosis. In other instances it may be due to an abnormality of neuromuscular transmission, i.e., Myasthenia Gravis.
Far-sightedness, also known as hyperopia, is a condition of the eye in which light is focused behind, instead of on, the retina. This results in close objects appearing blurry, while far objects may appear normal. As the condition worsens, objects at all distances may be blurry. Other symptoms may include headaches and eye strain. People may also experience accommodative dysfunction, binocular dysfunction, amblyopia, and strabismus.
The cause is an imperfection of the eyes. Often it occurs when the eyeball is too short, or the lens or cornea is misshapen. Risk factors include a family history of the condition, diabetes, certain medications, and tumors around the eye. It is a type of refractive error. Diagnosis is based on an eye exam.
Management can occur with eyeglasses, contact lenses, or surgery. Glasses are easiest while contact lenses can provide a wider field of vision. Surgery works by changing the shape of the cornea. Far-sightedness primarily affects young children, with rates of 8% at 6 years and 1% at 15 years. It then becomes more common again after the age of 40, affecting about half of people.
As hyperopia is the result of the visual image being focused behind the retina, it has two main causes:
- Low converging power of eye lens because of weak action of ciliary muscles
- Abnormal shape of the cornea
Far-sightedness is often present from birth, but children have a very flexible eye lens, which helps to compensate. In rare instances hyperopia can be due to diabetes, and problems with the blood vessels in the retina.
Many people with near-sightedness can read comfortably without eyeglasses or contact lenses even after age forty. However, their myopia does not disappear and the long-distance visual challenges remain. Myopes considering refractive surgery are advised that surgically correcting their nearsightedness may be a disadvantage after age forty, when the eyes become presbyopic and lose their ability to accommodate or change focus, because they will then need to use glasses for reading. Myopes with astigmatism find near vision better, though not perfect, without glasses or contact lenses when presbyopia sets in, but the more astigmatism, the poorer the uncorrected near vision.
A surgical technique offered is to create a "reading eye" and a "distance vision eye," a technique commonly used in contact lens practice, known as monovision. Monovision can be created with contact lenses, so candidates for this procedure can determine if they are prepared to have their corneas reshaped by surgery to cause this effect permanently.
Refractive errors such as hyperopia and Anisometropia may be associated abnormalities found in patients with vertical strabismus.
The vertical miscoordination between the two eyes may lead to
- Strabismic amblyopia, (due to deprivation / suppression of the deviating eye)
- cosmetic defect (most noticed by parents of a young child and in photographs)
- Face turn, depending on presence of binocular vision in a particular gaze
- diplopia or double vision - more seen in adults (maturity / plasticity of neural pathways) and suppression mechanisms of the brain in sorting out the images from the two eyes.
- cyclotropia, a cyclotorsional deviation of the eyes (rotation around the visual axis), particularly when the root cause is an oblique muscle paresis causing the hypertropia.
Presbyopia is a condition associated with aging of the eye that results in progressively worsening ability to focus clearly on close objects. Symptoms include difficulty reading small print, having to hold reading material farther away, headaches, and eyestrain. Different people will have different degrees of problems. Other types of refractive errors may exist at the same time as presbyopia.
Presbyopia is a natural part of the aging process. It is due to hardening of the lens of the eye causing the eye to focus light behind rather than on the retina when looking at close objects. It is a type of refractive error along with nearsightedness, farsightedness, and astigmatism. Diagnosis is by an eye examination.
Treatment is typically with eye glasses. The eyeglasses used have higher focusing power in the lower portion of the lens. Off the shelf reading glasses may be sufficient for some.
People over 35 are at risk for developing presbyopia and all people become affected to some degree. The condition was mentioned as early as the writings of Aristotle in the 4th century BC. Glass lenses first came into use for the problem in the late 13th century.
Refractive surgery causes only minimal size differences, similar to contact lenses. In a study performed on 53 children who had amblyopia due to anisometropia, surgical correction of the anisometropia followed by strabismus surgery if required led to improved visual acuity and even to stereopsis in many of the children ("see:" Refractive surgery#Children).
People of all ages who have noticeable strabismus may experience psychosocial difficulties. Attention has also been drawn to potential socioeconomic impact resulting from cases of detectable strabismus. A socioeconomic consideration exists as well in the context of decisions regarding strabismus treatment, including efforts to re-establish binocular vision and the possibility of stereopsis recovery.
One study has shown that strabismic children commonly exhibit behaviors marked by higher degrees of inhibition, anxiety, and emotional distress, often leading to outright emotional disorders. These disorders are often related to a negative perception of the child by peers. This is due not only to an altered aesthetic appearance, but also because of the inherent symbolic nature of the eye and gaze, and the vitally important role they play in an individual's life as social components. For some, these issues improved dramatically following strabismus surgery. Notably, strabismus interferes with normal eye contact, often causing embarrassment, anger, and feelings of awkwardness, thereby affecting social communication in a fundamental way, with a possible negative effect on self esteem.
Children with strabismus, particularly those with exotropia (an outward turn), may be more likely to develop a mental health disorder than normal-sighted children. Researchers have theorized that esotropia (an inward turn) was not found to be linked to a higher propensity for mental illness due to the age range of the participants, as well as the shorter follow-up time period; esotropic children were monitored to a mean age of 15.8 years, compared with 20.3 years for the exotropic group. A subsequent study with participants from the same area monitored congenital esotropia patients for a longer time period; results indicated that esotropic patients "were" also more likely to develop mental illness of some sort upon reaching early adulthood, similar to those with constant exotropia, intermittent exotropia, or convergence insufficiency. The likelihood was 2.6 times that of controls. No apparent association with premature birth was observed, and no evidence was found linking later onset of mental illness to psychosocial stressors frequently encountered by those with strabismus.
Investigations have highlighted the impact that strabismus may typically have on quality of life. Studies in which subjects were shown images of strabismic and non-strabismic persons showed a strong negative bias towards those visibly displaying the condition, clearly demonstrating the potential for future socioeconomic implications with regard to employability, as well as other psychosocial effects related to an individual's overall happiness.
Adult and child observers perceived a right heterotropia as more disturbing than a left heterotropia, and child observers perceived an esotropia as "worse" than an exotropia. Successful surgical correction of strabismus—for adult patients as well as children—has been shown to have a significantly positive effect on psychological well-being.
Very little research exists regarding coping strategies employed by adult strabismics. One study categorized coping methods into three subcategories: avoidance (refraining from participation an activity), distraction (deflecting attention from the condition), and adjustment (approaching an activity differently). The authors of the study suggested that individuals with strabismus may benefit from psychosocial support such as interpersonal skills training.
No studies have evaluated whether psychosocial interventions have had any benefits on individuals undergoing strabismus surgery.
"Congenital esotropia," or "infantile esotropia," is a specific sub-type of primary concomitant esotropia. It is a constant esotropia of large and consistent size with onset between birth and six months of age. It is not associated with hyperopia, so the exertion of accommodative effort will not significantly affect the angle of deviation. It is, however, associated with other ocular dysfunctions including oblique muscle over-actions, Dissociated Vertical Deviation (DVD,) Manifest Latent Nystagmus, and defective abduction, which develops as a consequence of the tendency of those with infantile esotropia to 'cross fixate.' Cross fixation involves the use of the right eye to look to the left and the left eye to look to the right; a visual pattern that will be 'natural' for the person with the large angle esotropia whose eye is already deviated towards the opposing side.
The origin of the condition is unknown, and its early onset means that the affected individual's potential for developing binocular vision is limited. The appropriate treatment approach remains a matter of some debate. Some ophthalmologists favour an early surgical approach as offering the best prospect of binocularity whilst others remain unconvinced that the prospects of achieving this result are good enough to justify the increased complexity and risk associated with operating on those under the age of one year.
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.
Incomitant esotropias are conditions in which the esotropia varies in size with direction of gaze. They can occur in both childhood and adulthood, and arise as a result of neurological, mechanical or myogenic problems. These problems may directly affect the extra-ocular muscles themselves, and may also result from conditions affecting the nerve or blood supply to these muscles or the bony orbital structures surrounding them. Examples of conditions giving rise to an esotropia might include a VIth cranial nerve (or Abducens) palsy, Duane's syndrome or orbital injury.
The eye, like any other optical system, suffers from a number of specific optical aberrations. The optical quality of the eye is limited by optical aberrations, diffraction and scatter. Correction of spherocylindrical refractive errors has been possible for nearly two centuries following Airy's development of methods to measure and correct ocular astigmatism. It has only recently become possible to measure the aberrations of the eye and with the advent of refractive surgery it might be possible to correct certain types of irregular astigmatism.
The appearance of visual complaints such as halos, glare and monocular diplopia after corneal refractive surgery has long been correlated with the induction of optical aberrations. Several mechanisms may explain the increase in the amount of higher-order aberrations with conventional eximer laser refractive procedures: a change in corneal shape toward oblateness or prolateness (after myopic and hyperopic ablations respectively), insufficient optical zone size and imperfect centration. These adverse effects are particularly noticeable when the pupil is large.
Quantitative comparisons between different eyes and conditions are usually made using RMS (root mean square). To measure RMS for each type of aberration involves squaring the difference between the aberration and mean value and averaging it across the pupil area. Different kinds of aberrations may have equal RMS across the pupil but have different effects on vision, therefore, RMS error is unrelated to visual performance. The majority of eyes have total RMS values less than 0.3 µm.
The most common method of classifying the shapes of aberration maps is to consider each map as the sum of fundamental shapes or basis functions. One popular set of basis functions are the Zernike polynomials. Each aberration may be positive or negative in value and induces predictable alterations in the image quality.
Because there is no limit to the number of terms that may be used by Zernike polynomials, vision scientists use the first 15 polynomials, based on the fact that they are enough to obtain a highly accurate description of the most common aberrations found in human eye. Among these the most important Zernike coefficients affecting visual quality are coma, spherical aberration, and trefoil.
Zernike polynomials are usually expressed in terms of polar coordinates (ρ,θ), where ρ is radial coordinate and θ is the angle. The advantage of expressing the aberrations in terms of these polynomials includes the fact that the polynomials are independent of one another. For each polynomial the mean value of the aberration across the pupil is zero and the value of the coefficient gives the RMS error for that particular aberration (i.e. the coefficients show the relative contribution of each Zernike mode to the total wavefront error in the eye). However these polynomials have the disadvantage that their coefficients are only valid for the particular pupil diameter they are determined for.
In each Zernike polynomial formula_1, the subscript n is the order of aberration, all the Zernike polynomials in which n=3 are called third-order aberrations and all the polynomials with n=4, fourth order aberrations and so on. formula_2 and formula_3 are usually called secondary Astigmatism and should not cause confusion. The superscript m is called the angular frequency and denotes the number of times the Wavefront pattern repeats itself.
List of Zernike modes and their common names:
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.
Optic disc drusen are found clinically in about 1% of the population but this increases to 3.4% in individuals with a family history of ODD. About two thirds to three quarters of clinical cases are bilateral. A necropsy study of 737 cases showed a 2.4% incidence with 2 out of 15 (13%) bilateral, perhaps indicating the insidious nature of many cases. An autosomal dominant inheritance pattern with incomplete penetrance and associated inherited dysplasia of the optic disc and its blood supply is suspected. Males and females are affected at equal rates. Caucasians are the most susceptible ethnic group. Certain conditions have been associated with disc drusen such as retinitis pigmentosa, angioid streaks, Usher syndrome, Noonan syndrome and Alagille syndrome. Optic disc drusen are not related to Bruch membrane drusen of the retina which have been associated with age-related macular degeneration.
Retinitis pigmentosa is the leading cause of inherited blindness, with approximately 1/4,000 individuals experiencing the non-syndromic form of their disease within their lifetime. It is estimated that 1.5 million people worldwide are currently affected. Early onset RP occurs within the first few years of life and is typically associated with syndromic disease forms, while late onset RP emerges from early to mid-adulthood.
Autosomal dominant and recessive forms of retinitis pigmentosa affect both male and female populations equally; however, the less frequent X-linked form of the disease affects male recipients of the X-linked mutation, while females usually remain unaffected carriers of the RP trait. The X-linked forms of the disease are considered severe, and typically lead to complete blindness during later stages. In rare occasions, a dominant form of the X-linked gene mutation will affect both males and females equally.
Due to the genetic inheritance patterns of RP, many isolate populations exhibit higher disease frequencies or increased prevalence of a specific RP mutation. Pre-existing or emerging mutations that contribute to rod photoreceptor degeneration in retinitis pigmentosa are passed down through familial lines; thus, allowing certain RP cases to be concentrated to specific geographical regions with an ancestral history of the disease. Several hereditary studies have been performed to determine the varying prevalence rates in Maine (USA), Birmingham (England), Switzerland (affects 1/7000), Denmark (affects 1/2500), and Norway. Navajo Indians display an elevated rate of RP inheritance as well, which is estimated as affecting 1 in 1878 individuals. Despite the increased frequency of RP within specific familial lines, the disease is considered non-discriminatory and tends to equally affect all world populations.
A spasm of accommodation (also known as a ciliary spasm, an accommodation, or accommodative spasm) is a condition in which the ciliary muscle of the eye remains in a constant state of contraction. Normal accommodation allows the eye to "accommodate" for near-vision. However in a state of perpetual contraction, the ciliary muscle cannot relax when viewing distant objects. This causes vision to blur when attempting to view objects from a distance. This may cause pseudomyopia or latent hyperopia.
Although antimuscarinic drops (homoatropine 5%) can be applied topically to relax the muscle, this leaves the individual without any accommodation and, depending on refractive error, unable to see well at near distances. Also, excessive pupil dilation may occur as an unwanted side effect. This dilation may pose a problem since a larger pupil is less efficient at focusing light (see pupil, aperture, and optical aberration for more.)
Patients who have accommodative spasm may benefit from being given glasses or contacts that account for the problem or by using vision therapy techniques to regain control of the accommodative system..
Possible clinical findings include:
Normal Amplitude of accommodation and Near point of convergence
Reduced Negative relative accommodation
Difficulty clearing plus on facility testing
Patients with optic disc drusen should be monitored periodically for ophthalmoscopy, Snellen acuity, contrast sensitivity, color vision, intraocular pressure and threshold visual fields. For those with visual field defects optical coherence tomography has been recommended for follow up of nerve fiber layer thickness. Associated conditions such as angioid streaks and retinitis pigmentosa should be screened for. Both the severity of optic disc drusen and the degree of intraocular pressure elevation have been associated with visual field loss. There is no widely accepted treatment for ODD, although some clinicians will prescribe eye drops designed to decrease the intra-ocular pressure and theoretically relieve mechanical stress on fibers of the optic disc. Rarely choroidal neovascular membranes may develop adjacent to the optic disc threatening bleeding and retinal scarring. Laser treatment or photodynamic therapy or other evolving therapies may prevent this complication.
RP may be:
(1) Non-syndromic, that is, it occurs alone, without any other clinical findings,
(2) Syndromic, with other neurosensory disorders, developmental abnormalities, or complex clinical findings, or
(3) Secondary to other systemic diseases.
- RP combined with deafness (congenital or progressive) is called Usher syndrome.
- Alport's syndrome is associated with RP and an abnormal glomerular-basement membrane leading nephrotic syndrome and inherited as X-linked dominant.
- RP combined with ophthalmoplegia, dysphagia, ataxia, and cardiac conduction defects is seen in the mitochondrial DNA disorder Kearns-Sayre syndrome (also known as Ragged Red Fiber Myopathy)
- RP combined with retardation, peripheral neuropathy, acanthotic (spiked) RBCs, ataxia, steatorrhea, is absence of VLDL is seen in abetalipoproteinemia.
- RP is seen clinically in association with several other rare genetic disorders (including muscular dystrophy and chronic granulomatous disease) as part of McLeod syndrome. This is an X-linked recessive phenotype characterized by a complete absence of XK cell surface proteins, and therefore markedly reduced expression of all Kell red blood cell antigens. For transfusion purposes these patients are considered completely incompatible with all normal and K0/K0 donors.
- RP associated with hypogonadism, and developmental delay with an autosomal recessive inheritance pattern is seen with Bardet-Biedl syndrome
Other conditions include neurosyphilis, toxoplasmosis and Refsum's disease.