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
In the developed world, retinoblastoma has one of the best cure rates of all childhood cancers (95-98%), with more than nine out of every ten sufferers surviving into adulthood. In the UK, around 40 to 50 new cases are diagnosed each year.
Good prognosis depends upon early presentation of the child in health facility. Late presentation of the child in hospital is associated with poor prognosis.
Survivors of hereditary retinoblastoma have a higher risk of developing other cancers later in life.
Somatic amplification of the MYCN oncogene is responsible for some cases of non-hereditary, early-onset, aggressive, unilateral retinoblastoma. Although MYCN amplification accounted for only 1.4% of retinoblastoma cases, researchers identified it in 18% of infants diagnosed at less than 6 months of age. Median age at diagnosis for MYCN retinoblastoma was 4.5 months, compared with 24 months for those who had non-familial unilateral disease with two RB1 gene mutations.
Many environmental conditions have also been known to cause anophthalmia. The strongest support for environmental causes has been studies where children have had gestational-acquired infections. These infections are typically viral. A few known pathogens that can cause anophthalmia are Toxoplasma, rubella, and certain strains of the influenza virus. Other known environmental conditions that have led to anophthalmia are maternal vitamin A deficiency, exposure to X-rays during gestation, solvent abuse, and exposure to thalidomide.
An interstitial deletion of chromosome 14 has been known to occasionally be the source of anophthalmia. The deletion of this region of chromosome has also been associated with patients having a small tongue, and high arched palate, developmental and growth retardation, undescended testes with a micropenis, and hypothyroidism. The region that has been deleted is region q22.1-q22.3. This confirms that region 22 on chromosome 14 influences the development of the eye.
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.
Vitamin A supplementation plays an important role, specifically vitamin A deficiency is a top causes of preventable childhood blindness. Though in measles cases, the administration of the vitamin to offset visual impairment has not been proven effective, as of yet.
is a program launched by the International Agency for the Prevention of Blindness (IAPB) and is supported by the WHO in 1999 that has made controlling blindness in children a high priority.
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.
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.
Enucleation (surgical removal of the eye) is the treatment of choice for large ciliary body melanomas. Small or medium sized tumors may be treated by an "iridocyclectomy". Radiotherapy may be appropriate in selected cases.
Exophthalmos is commonly found in dogs. It is seen in brachycephalic (short-nosed) dog breeds because of the shallow orbit. However, it can lead to keratitis secondary to exposure of the cornea. Exophthalmos is commonly seen in the Pug, Boston Terrier, Pekingese, and Shih Tzu.
It is a common result of head trauma and pressure exerted on the front of the neck too hard in dogs. In cats, eye proptosis is uncommon and is often accompanied by facial fractures.
About 40% of proptosed eyes retain vision after being replaced in the orbit, but in cats very few retain vision. Replacement of the eye requires general anesthesia. The eyelids are pulled outward, and the eye is gently pushed back into place. The eyelids are sewn together in a procedure known as tarsorrhaphy for about five days to keep the eye in place. Replaced eyes have a higher rate of keratoconjunctivitis sicca and keratitis and often require lifelong treatment. If the damage is severe, the eye is removed in a relatively simple surgery known as enucleation of the eye.
The prognosis for a replaced eye is determined by the extent of damage to the cornea and sclera, the presence or absence of a pupillary light reflex, and the presence of ruptured rectus muscles. The rectus muscles normally help hold the eye in place and direct eye movement. Rupture of more than two rectus muscles usually requires the eye to be removed, because significant blood vessel and nerve damage also usually occurs. Compared to brachycephalic breeds, dochilocephalic (long-nosed) breeds usually have more trauma to the eye and its surrounding structures, so the prognosis is worse .
Ciliary Body Melanoma is a type of cancer arising from the coloured part (uvea) of the eye.
About 12% of uveal melanoma arise from the ciliary body.
Leukocoria (also leukokoria or white pupillary reflex) is an abnormal white reflection from the retina of the eye. Leukocoria resembles eyeshine, but leukocoria can occur in humans and other animals that lack eyeshine because their retina lacks a "tapetum lucidum".
Leukocoria is a medical sign for a number of conditions, including Coats disease, congenital cataract, corneal scarring, melanoma of the ciliary body, Norrie disease, ocular toxocariasis, persistence of the tunica vasculosa lentis (PFV/PHPV), retinoblastoma, and retrolental fibroplasia.
Because of the potentially life-threatening nature of retinoblastoma, a cancer, that condition is usually considered in the evaluation of leukocoria. In some rare cases (1%) the leukocoria is caused by Coats' disease (leaking retinal vessels).
Most optic nerve tumors (65 percent) are gliomas that occur somewhere along the anterior visual pathway.
An optic nerve melanocytoma is a tumor made up of melanocytes and melanin. These tumors are typically a benign; they can grow, but rarely transform into a malignancy. Even so, local growth can affect adjacent tissues.
Diplopia has a diverse range of ophthalmologic, infectious, autoimmune, neurological, and neoplastic causes.
Sympathetic ophthalmia is rare, affecting 0.2% to 0.5% of non-surgical eye wounds, and less than 0.01% of surgical penetrating eye wounds. There are no gender or racial differences in incidence of SO.
Exophthalmos (also called exophthalmus, exophthalmia, proptosis, or exorbitism) is a bulging of the eye anteriorly out of the orbit. Exophthalmos can be either bilateral (as is often seen in Graves' disease) or unilateral (as is often seen in an orbital tumor). Complete or partial dislocation from the orbit is also possible from trauma or swelling of surrounding tissue resulting from trauma.
In the case of Graves' disease, the displacement of the eye is due to abnormal connective tissue deposition in the orbit and extraocular muscles which can be visualized by CT or MRI.
If left untreated, exophthalmos can cause the eyelids to fail to close during sleep leading to corneal dryness and damage. Another possible complication would be a form of redness or irritation called "Superior limbic keratoconjunctivitis", where the area above the cornea becomes inflamed as a result of increased friction when blinking. The process that is causing the displacement of the eye may also compress the optic nerve or ophthalmic artery, leading to blindness.
In the early stages, there are a few treatment options. Laser surgery or cryotherapy (freezing) can be used to destroy the abnormal blood vessels, thus halting progression of the disease. However, if the leaking blood vessels are clustered around the optic nerve, this treatment is not recommended as accidental damage to the nerve itself can result in permanent blindness. Although Coats' disease tends to progress to visual loss, it may stop progressing on its own, either temporarily or permanently. Cases have been documented in which the condition even reverses itself. However, once total retinal detachment occurs, sight loss is permanent in most cases. Removal of the eye (enucleation) is an option if pain or further complications arise.
Temporary binocular diplopia can be caused by alcohol intoxication or head injuries, such as concussion (if temporary double vision does not resolve quickly, one should see an optometrist or ophthalmologist immediately). It can also be a side effect of benzodiazepines or opioids, particularly if used in larger doses for recreation, the anti-epileptic drugs Phenytoin and Zonisamide, and the anti-convulsant drug Lamotrigine, as well as the hypnotic drug Zolpidem and the dissociative drugs Ketamine and Dextromethorphan. Temporary diplopia can also be caused by tired and/or strained eye muscles or voluntarily. If diplopia appears with other symptoms such as fatigue and acute or chronic pain, the patient should see an ophthalmologist immediately.
Coats' disease, (also known as exudative retinitis or retinal telangiectasis, sometimes spelled Coates' disease), is a rare congenital, nonhereditary eye disorder, causing full or partial blindness, characterized by abnormal development of blood vessels behind the retina. Coats' disease can also fall under glaucoma.
It can have a similar presentation to that of retinoblastoma.
Trilateral retinoblastoma (TRb) is a malignant midline primitive neuroectodermal tumor occurring in patients with inherited uni- or bilateral retinoblastoma. In most cases trilateral retinoblastoma presents itself as pineoblastoma (pineal TRb). In about a fourth of the cases the tumor develops in another intracranial region, most commonly supra- or parasellar (non-pineal TRb), but there are reported cases with non-pineal TRb in the 3rd ventricle. In most cases pineal TRb is diagnosed before the age of 5, but after the diagnosis of retinoblastoma. Non-pineal TRb, however, is often diagnosed simultaneous with retinoblastoma. Prognosis of patients with trilateral retinoblastoma is dismal, only a few patients have survived more than 5 years after diagnosis; all survivors were diagnosed with small tumors in a subclinical stage. Recent advances in (high-dose) chemotherapy treatment regimens and early detection have improved survival of patients with trilateral retinoblastoma.
Chronic progressive external ophthalmoplegia (CPEO), also known as progressive external ophthalmoplegia (PEO), is a type of eye disorder characterized by slowly progressive inability to move the eyes and eyebrows. It is often the only feature of mitochondrial disease, in which case the term CPEO may be given as the diagnosis. In other people suffering from mitochondrial disease, CPEO occurs as part of a syndrome involving more than one part of the body, such as Kearns-Sayre syndrome. Occasionally CPEO may be caused by conditions other than mitochondrial diseases.
While the vast majority of hyphemas resolve on their own without issue, sometimes complications occur. Traumatic hyphema may lead to increased intraocular pressure, peripheral anterior synechiae, atrophy of the optic nerve, staining of the cornea with blood, re-bleeding, and impaired accommodation.
Secondary hemorrhage, or rebleeding of the hyphema, is thought to worsen outcomes in terms of visual function. Rebleeding occurs in 4-35% of hyphema cases and is a risk factor for glaucoma.