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Colobomas of the iris may be treated in a number of ways. A simple cosmetic solution is a specialized cosmetic contact lens with an artificial pupil aperture. Surgical repair of the iris defect is also possible. Surgeons can close the defect by stitching in some cases. More recently artificial iris prosthetic devices such as the Human Optics artificial iris have been used successfully by specialist surgeons. This device cannot be used if the natural lens is in place and is not suitable for children. Suture repair is a better option where the lens is still present.
Vision can be improved with glasses, contact lenses or even laser eye surgery but may be limited if the retina is affected or there is amblyopia.
In general, strabismus can be approached and treated with a variety of procedures. Depending on the individual case, treatment options include:
- Correction of refractive errors by glasses
- Prism therapy (if tolerated, to manage diplopia)
- Patching (mainly to manage amblyopia in children and diplopia in adults)
- Botulinum toxin injection
- Surgical correction
Surgical correction of the hypertropia is desired to achieve binocularity, manage diplopia and/or correct the cosmetic defect. Steps to achieve the same depend on mechanism of the hypertropia and identification of the offending muscles causing the misalignment. Various surgical procedures have been described and should be offered after careful examination of eyes, including a detailed orthoptic examination focussing on the disturbances in ocular motility and visual status. Specialty fellowship trained pediatric ophthalmologists and strabismus surgeons are best equipped to deal with these complex procedures.
There is no cure for ONH; however, many therapeutic interventions exist for the care of its symptoms. These may include hormone replacement therapy for hypopituitarism, occupational, physical, and/or speech therapy for other issues, and services of a teacher of students with blindness/visually impairment. Special attention should be paid to early development of oral motor skills and acclimation to textured foods for children with texture aversion, or who are otherwise resistant to eating.
Sleep dysfunction can be ameliorated using melatonin in the evening in order to adjust a child's circadian clock.
Treatment for strabismus may include patching of the better eye, which may result in improved vision in the worse eye; however, this should be reserved for cases in which the potential for vision improvement in both eyes is felt to be good. Surgery to align the eyes can be performed once children with strabismus develop equal visual acuity in both eyes, most often after the age of three. Generally surgery results in improved appearance only and not in improved visual function.
Cherry eye, if caught early, can be resolved with a downward diagonal-toward-snout closed-eye massage of the affected eye or occasionally self-corrects alone or with antibiotics and steroids. Sometimes the prolapse will correct itself with no interference, or with slight physical manual massage manipulation as often as necessary coupled with medication.
Untreated glaucoma leads to total blindness. Surgical treatment is required. Presently-utilized surgical procedures include goniotomy, trabeculotomy, or trabeculectomy.
Postoperative treatment includes antibiotic eye ointment three times daily for two weeks. With newer procedures, the rate of prolapse recurrence is minimal. Most techniques have a reprolapse rate of approximately zero to four percent. Occasionally, additional or duplicate surgery is required. With treatment, it is possible for animals to live a normal life.
A punctal plug may be inserted into the tear duct by an optometrist or ophthalmologist, decreasing the removal of natural tears from the affected eye.
The use of contact lenses may help prevent the abrasion during blinking lifting off the surface layer and uses thin lenses that are gas permeable to minimise reduced oxygenation. However they need to be used for between 8–26 weeks and such persistent use both incurs frequent follow-up visits and may increase the risk of infections.
Alternatively, under local anaesthetic, the corneal layer may be gently removed with a fine needle, cauterised (heat or laser) or 'spot welding' attempted (again with lasers). The procedures are not guaranteed to work, and in a minority may exacerbate the problem.
Anterior Stromal Puncture with a 20-25 gauge needle is an effective and simple treatment.
An option for minimally invasive and long-term effective therapy is laser phototherapeutic keratectomy. Laser PTK involves the surgical laser treatment of the cornea to selectively ablate cells on the surface layer of the cornea. It is thought that the natural regrowth of cells in the following days are better able to attach to the basement membrane to prevent recurrence of the condition. Laser PTK has been found to be most effective after epithelial debridement for the partial ablation of Bowman's lamella, which performed prior to PTK in the surgical procedure. This is meant to smoothen out the corneal area that the laser PTK will then treat. In some cases, small-spot PTK, which only treats certain areas of the cornea may also be an acceptable alternative.
Usually the hemangioma requires medical therapy. The child may need other therapies, depending on what other organs or structures are involved.
Treatment is usually confined to such surgical intervention as may be necessary to help the child to develop e.g. jaw distraction/bone grafts, ocular dermoid debulking (see below), repairing cleft palate/lip, repairing heart malformations or spinal surgery. Some patients with Goldenhar syndrome will require assistance as they grow by means of hearing aids or glasses.
Stem cell grafting (womb tissue grafting) has been successfully used to "reprogram" eye dermoids, effectively halting the regrowth of eye dermoids.
These tissues that grow on the eye are "mis-programmed" cells (sometimes tooth or nail cells instead of eye cells).
With the eye generally profusely watering, the type of tears being produced have little adhesive property. Water or saline eye drops tend therefore to be ineffective. Rather a 'better quality' of tear is required with higher 'wetting ability' (i.e. greater amount of glycoproteins) and so artificial tears (e.g. viscotears) are applied frequently. Also recommended is Muro 128 5% Ointment (Sodium Chloride Hypertonicity Ophthalmic Ointment, 5%) which is a great relief overnight, it lasts longer than most regular tears and provides protection for those with severe cases.
Nocturnal Lagophthalmos (where one’s eyelids don’t close enough to cover the eye completely during sleep) may be an exacerbating factor, in which case using surgical tape to keep the eye closed at night can help.
Whilst individual episodes may settle within a few hours or days, additional episodes (as the name suggests) will recur at intervals.
Where episodes frequently occur, or there is an underlying disorder, one medical, or three types of surgical curative procedures may be attempted:
use of therapeutic contact lens, controlled puncturing of the surface layer of the eye (Anterior Stromal Puncture) and laser phototherapeutic keratectomy (PTK). These all essentially try to allow the surface epithelium to reestablish with normal binding to the underlying basement membrane, the method chosen depends upon the location & size of the erosion.
Because newborns can breathe only through their nose, the main goal of postnatal treatment is to establish a proper airway. Primary surgical treatment of FND can already be performed at the age of 6 months, but most surgeons wait for the children to reach the age of 6 to 8 years. This decision is made because then the neurocranium and orbits have developed to 90% of their eventual form. Furthermore, the dental placement in the jaw has been finalized around this age.
Treatment for individuals with schizencephaly generally consists of physical therapy (KG-ZNS with Vojta Methode), occupational therapy (with specific emphasis on neuro-developmental therapy techniques), treatment for seizures, and, in cases that are complicated by hydrocephalus, a shunt.
Operations to correct the malformations of the skull should be performed within the first year of infancy in patients affected by Carpenter Syndrome. Performing surgery at a young age increases the likelihood of obtaining a greatly improved appearance of the head because modifying bone is much easier to do when the skull is still constantly growing and changing.
In surgery the doctor breaks the fused sutures to allow for brain growth. Doctors remove the cranial plates of the skull, reshape them and replace them back onto the skull in an attempt to reshape the head to appear more normal. Although the sutures are broken during surgery they will quickly refuse, and in some cases holes form in the plates allowing cerebral spinal fluid to escape into cyst like structures on the external surface of the head.
If an individual with Carpenter Syndrome has a serious heart defect they will require surgery to correct the malformation of the heart. Other elective surgeries may also be performed. Some parents opt to have their child’s webbed fingers or toes separated which improves their appearance but not necessarily the functionality of the digits. In order to address the occupational challenges of the disease, many children with Carpenter Syndrome go through speech and occupational therapy in order to achieve more independence in everyday tasks and activities (RN, 2007).
In order to address the vision problems that are associated with bicoronal craniosynostosis, the individual must seek consultation from an ophthalmologist. If the palate is severely affected dental consultation may be necessary to correct the malformation. Obesity is often associated with Carpenter Syndrome, so a lifelong diet plan is often utilized to maintain a healthy weight. In addition surgery must be performed if the testes fail to descend (Paul A. Johnson, 2002). If the procedure is not performed the individual will become infertile.
Currently, the only effective treatment for encephaloceles is reparative surgery, generally performed during infancy. The extent to which it can be corrected depends on the location and size of the encephaloceles; however, large protrusions can be removed without causing major disability. Surgery repositions the bulging area back into the skull, removes the protrusions, and corrects the deformities, typically relieving pressure that can delay normal brain development. Occasionally, shunts are placed to drain excess cerebrospinal fluid from the brain.
The goals of treatment include:
- closure of open skin defects to prevent infection and desiccation of brain tissue
- removal of nonfunctional extracranial cerebral tissue with water-tight closure of the dura
- total craniofacial reconstruction with particular emphasis on avoiding the long-nose deformity (nasal elongation that results from depression of the cribiform plate and nasal placode). Without proper management, the long-nose deformity can be more obvious after repair.
A coloboma (from the Greek "koloboma", meaning defect) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth (except for one case, where it developed within the first few months of the child's life) and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born.
The classical description in medical literature is of a key-hole shaped defect. A coloboma can occur in one eye (unilateral) or both eyes (bilateral). Most cases of coloboma affect only the iris. People with coloboma may have no vision problems or may be blind, depending on severity. It affects less than one in every 10,000 births.
Structural nasal deformities are corrected during or shortly after the facial bipartition surgery. In this procedure, bone grafts are used to reconstruct the nasal bridge. However, a second procedure is often needed after the development of the nose has been finalized (at the age of 14 years or even later).
Secondary rhinoplasty is based mainly on a nasal augmentation, since it has been proven better to add tissue to the nose than to remove tissue. This is caused by the minimal capacity of contraction of the nasal skin after surgery.
In rhinoplasty, the use of autografts (tissue from the same person as the surgery is performed on) is preferred. However, this is often made impossible by the relative damage done by previous surgery. In those cases, bone tissue from the skull or the ribs is used. However, this may give rise to serious complications such as fractures, resorption of the bone, or a flattened nasofacial angle.
To prevent these complications, an implant made out of alloplastic material could be considered. Implants take less surgery time, are limitlessly available and may have more favorable characteristics than autografts. However, possible risks are rejection, infection, migration of the implant, or unpredictable changes in the physical appearance in the long term.
At the age of skeletal maturity, orthognathic surgery may be needed because of the often hypoplastic maxilla. Skeletal maturity is usually reached around the age of 13 to 16. Orthognathic surgery engages in diagnosing and treating disorders of the face and teeth- and jaw position.
To treat the trigonocephaly, expanding the distance between orbits using springs seems to work. It allows enough space for the brain to grow and it creates a normal horizontal axis of the orbits and supraorbital bar. The endoscopic surgery started to become popular since the early 90's, but it has some technical limitations (only strip cranictomy is possible). There have been few attempts to go beyond the limits.
Aesthetic outcomes of metopic surgery have been good. Surgery does not have a perfect outcome because there will most likely be minor irregularities. Sometimes reoperations are needed for the severe cases. Trying to hollow out the temporal, and the hypoterlorism are very hard to correct. The hypotelorism usually stays not corrected and in order to correct the temporal hollowing, a second operation is most likely needed.
No specific treatment is available. Management is only supportive and preventive.
Those who are diagnosed with the disease often die within the first few months of life. Almost all children with the disease die by the age of three.
Microphthalmia (Greek: μικρός "micros" = small; ὀφθαλμός "ophthalmos" = eye), also referred as microphthalmos, is a developmental disorder of the eye in which one (unilateral microphthalmia) or both (bilateral microphthalmia) eyes are abnormally small and have anatomic malformations. It is different from nanophthalmos in which the eye is small in size but has no anatomical alterations.
The visual prognosis in optic nerve hypoplasia is quite variable. Occasionally, optic nerve hypoplasia may be compatible with near-normal vision; in other cases, one or both eyes may be functionally, or legally blind. Although most patients with only optic nerve involvement lead normally productive lives, those with accompanying endocrine dysfunction or other midline cerebral abnormalities are more at risk for on-going intellectual and other disabilities.
The only treatment for MWS is only symptomatic, with multidisciplinary management
The presence of a small eye within the orbit can be a normal incidental finding but in most cases it is abnormal and results in blindness. The incidence is 14 per 100,000 and the condition affects 3-11% of blind children.
Children with CHARGE syndrome may have a number of life-threatening medical conditions; with advances in medical care, these children can survive and can thrive with the support of a multidisciplinary team of medical professionals. Therapies and education must take into consideration hearing impairment, vision problems, and any others. Early intervention, such as occupational, speech-language, and physical therapy, to improve static posture, ambulation, and self-care skills is important. The intelligence of children with multiple health impairments, such as combined deafblindness, can be underestimated in the absence of early intervention.
Anisocoria is a condition characterized by an unequal size of the eyes' pupils. Affecting 20% of the population, it can be an entirely harmless condition or a symptom of more serious medical problems.
Aniridia is the absence of the iris, usually involving both eyes. It can be congenital or caused by a penetrant injury. Isolated aniridia is a congenital disorder which is not limited to a defect in iris development, but is a panocular condition with macular and optic nerve hypoplasia, cataract, and corneal changes. Vision may be severely compromised and the disorder is frequently associated with a number of ocular complications: nystagmus, amblyopia, buphthalmos, and cataract. Aniridia in some individuals occurs as part of a syndrome, such as WAGR syndrome (kidney nephroblastoma (Wilms tumour), genitourinary anomalies and intellectual disability), or Gillespie syndrome (cerebellar ataxia).