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The most extensive epidemiological survey on this congenital malformation has been carried out by Dharmasena et al and using English National Hospital Episode Statistics, they calculated the annual incidence of anophthalmia, microphthalmia and congenital malformations of orbit/lacrimal apparatus from 1999 to 2011. According to this study the annual incidence of congenital microphthalmia in the United Kingdom was 10.8 (8.2 to 13.5) in 1999 and 10.0 (7.6 to 12.4) in 2011.
Untreated glaucoma leads to total blindness. Surgical treatment is required. Presently-utilized surgical procedures include goniotomy, trabeculotomy, or trabeculectomy.
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.
Treatment of lagopthalmos can include both supportive care methods as well as surgical. If unable to receive surgery, artificial tears should be administered at least four times a day to the cornea to preserve the tear film. Leading up to a surgery, a patient can undergo a tarsorrhaphy which partially sews the eye shut temporarily to further protect the cornea as the patient waits for care. Multiple surgical treatments exist for Lagopthalmos but the most prevalent method includes weighing the upper eyelid down by surgically inserting a gold plate. Due to possible complications in conjunction with both the upper and lower eyelid, it might also be required to undergo a second surgery to tighten and elevate the lower eyelid to ensure both the upper and lower eyelids can fully close and protect the cornea.
Congenital cystic eye (also known as "CCE" or "cystic eyeball") is an extremely rare ocular malformation where the eye fails to develop correctly "in utero" and is replaced by benign, fluid-filled tissue. Its incidence is unknown, due to the very small number of cases reported. An audit by Duke-Elder of the medical literature from 1880 to 1963 discovered only 28 cases. The term was coined in 1937 by the renowned ophthalmologist Ida Mann.
Embryologically, the defect is thought to occur around day 35 of gestation, when the vesicle fails to invaginate. Dysgenesis of the vesicle later in development may result in coloboma, a separate and less severe malformation of the ocular structures.
CCE is almost always unilateral, but at least 2 cases of bilateral involvement have been described. Patients may also present with skin appendages attached to the skin surrounding the eyes. Association with intracranial anomalies has been reported.
Treatment of CCE is usually by enucleation, followed by insertion of an ocular implant and prosthesis.
Cases of lymphangioma are diagnosed by histopathologic inspection. In prenatal cases, cystic lymphangioma is diagnosed using an ultrasound; when confirmed amniocentesis may be recommended to check for associated genetic disorders.
Nocturnal lagophthalmos is the inability to close the eyelids during sleep. It may reduce the quality of sleep, cause exposure-related symptoms or, if severe, cause corneal damage (exposure keratopathy). The degree of lagophthalmos can be minor (obscure lagophthalmos), or quite obvious.
It is often caused by an anomaly of the eyelid that prevents full closure. Treatment may involve surgery to correct the malposition of the eyelid(s). Punctal plugs may be used to increase the amount of lubrication on the surface of the eyeball by blocking some of the tear drainage ducts. Eye drops may also be used to provide additional lubrication or encourage the eyes to increase tear production.
The condition is not widely understood; in at least one instance a passenger was removed from a US Airways flight because of it.
Lymphatic malformations may be detected in the human fetus by ultrasound if they are of sufficient size. Detection of a cystic malformation may prompt further investigation, such as amniocentesis, in order to evaluate for genetic abnormalities in the fetus. Lymphatic malformations may be discovered postnatally or in older children/adults, and most commonly present as a mass or as an incidental finding during medical imaging.
Verification of the diagnosis may require more testing, as there are multiple cystic masses that arise in children. Imaging, such as ultrasound or MRI, may provide more information as to the size and extent of the lesion.
Infantile glaucoma, which often produces the clinical sign of buphthalmos, can be caused when an abnormally narrow angle between the cornea and iris blocks the outflow of aqueous humor; this causes increased intraocular pressure and eventual enlargement of the globe (eyeball). Angle closure can be caused by developmental abnormalities of the eye as well as the presence of abnormal structures within the vitreous.
Most people with the disease need laser repairs to the retina, and about 60 per cent need further surgery.
A symblepharon is a partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. It results either from disease (conjunctival sequelae of trachoma) or trauma. Cicatricial pemphigoid and, in severe cases, rosacea may cause symblepharon. It is rarely congenital. and its treament
1 ocular movements restricted
2 diplopia
3 lagophthalmos
4 cosmetic cause
types.
Anterior, adhesion in Anterior part
Posterior, adhesion in only fornices
total, adhesion involves whole lens
Complications.
prophylaxis, 1 sweeping a glass rod around fornices several times a day
2 therapeutic soft contact lens
curative treatment t, 1 mobilising surrounding cornea, 2 conjunctival or buccal mucosa graft, 3 amniotic membrane transplant
Mild conjunctivochalasis can be asymptomatic and in such cases does not require treatment. Lubricating eye drops can be tried but do not often work.
If discomfort persists after standard dry eye treatment and anti-inflammatory therapy, surgery can be undertaken to remove the conjunctival folds and restore a smooth tear film. This conjunctivoplasty surgery to correct conjunctivochalasis typically involves resection of an ellipse-shaped segment of conjunctiva just inferior to the lower lid margin, and is usually followed either by suturing or amniotic membrane graft transplantation to close the wound.
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.
Cryptophthalmos is a rare congenital anomaly in which the skin is continuous over the eyeball with absence of eyelids. It is classified into three types: complete, incomplete and abortive. Failure of eyelid separation can be associated with maldevelopment of the underlying cornea and microphthalmia. Cryptophthalmos usually occurs on both sides and occurs in association with other multiple malformations collectively referred to as Fraser syndrome.
The prognosis for lymphangioma circumscriptum and cavernous lymphangioma is generally excellent. This condition is associated with minor bleeding, recurrent cellulitis, and lymph fluid leakage. Two cases of lymphangiosarcoma arising from lymphangioma circumscriptum have been reported; however, in both of the patients, the preexisting lesion was exposed to extensive radiation therapy.
In cystic hygroma, large cysts can cause dysphagia, respiratory problems, and serious infection if they involve the neck. Patients with cystic hygroma should receive cytogenetic analysis to determine if they have chromosomal abnormalities, and parents should receive genetic counseling because this condition can recur in subsequent pregnancies.
Complications after surgical removal of cystic hygroma include damage to the structures in the neck, infection, and return of the cystic hygroma.
Because the disorder often occurs in people with typical dry eye symptoms, it can be difficult to distinguish readily the discomfort caused by the dry eye from that directly related to the redundant conjunctiva.
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.
CPAMs are often identified during routine prenatal ultrasonography. Identifying characteristics on the sonogram include: an echogenic (bright) mass appearing in the chest of the fetus, displacement of the heart from its normal position, a flat or everted (pushed downward) diaphragm, or the absence of visible lung tissue.
CPAMs are classified into three different types based largely on their gross appearance. Type I has a large (>2 cm) multiloculated cysts. Type II has smaller uniform cysts. Type III is not grossly cystic, referred to as the "adenomatoid" type. Microscopically, the lesions are not true cysts, but communicate with the surrounding parenchyma. Some lesions have an abnormal connection to a blood vessel from an aorta and are referred to as "hybrid lesions."
The earliest point at which a CPAM can be detected is by prenatal ultrasound. The classic description is of an echogenic lung mass that gradually disappears over subsequent ultrasounds. The disappearance is due to the malformation becoming filled with fluid over the course of the gestation, allowing the ultrasound waves to penetrate it more easily and rendering it invisible on sonographic imaging. When a CPAM is rapidly growing, either solid or with a dominant cyst, they have a higher incidence of developing venous outflow obstruction, cardiac failure and ultimately "hydrops fetalis". If "hydrops" is not present, the fetus has a 95% chance of survival. When hydrops is present, risk of fetal demise is much greater without "in utero" surgery to correct the pathophysiology. The greatest period of growth is during the end of the second trimester, between 20–26 weeks.
A measure of mass volume divided by head circumference, termed cystic adenomatoid malformation volume ratio (CVR) has been developed to predict the risk of "hydrops". The lung mass volume is determined using the formula (length × width × anteroposterior diameter ÷ 2), divided by head circumference. With a CVR greater than 1.6 being considered high risk. Fetuses with a CVR less than 1.6 and without a dominant cyst have less than a 3% risk of hydrops. After delivery, if the patient is symptomatic, resection is mandated. If the infant is asymptomatic, the need for resection is a subject of debate, though it is usually recommended. Development of recurrent infections, rhabdomyosarcoma, adenocarcinomas "in situ" within the lung malformation have been reported.
Enophthalmos is the posterior displacement of the eyeball within the orbit due to changes in the volume of the orbit (bone) relative to its contents (the eyeball and orbital fat), or loss of function of the orbitalis muscle. It should not be confused with its opposite, exophthalmos, which is the anterior displacement of the eye.
It may be a congenital anomaly, or be acquired as a result of trauma (such as in a blowout fracture of the orbit), Horner's syndrome (apparent enophthalmos due to ptosis), Marfan syndrome, Duane's syndrome, silent sinus syndrome or phthisis bulbi.
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.
A baby with a prenatally diagnosed cystic hygroma should be delivered in a major medical center equipped to deal with neonatal complications, such as a neonatal intensive care unit. An obstetrician usually decides the method of delivery. If the cystic hygroma is large, a cesarean section may be performed. After birth, infants with a persistent cystic hygroma must be monitored for airway obstruction. A thin needle may be used to reduce the volume of the cystic hygroma to prevent facial deformities and airway obstruction. Close observation of the baby by a neonatologist after birth is recommended. If resolution of the cystic hygroma does not occur before birth, a pediatric surgeon should be consulted.
Cystic hygromas that develop in the third trimester, after thirty weeks gestation, or in the postnatal period are usually not associated with chromosome abnormalities. There is a chance of recurrence after surgical removal of the cystic hygroma. The chance of recurrence depends on the extent of the cystic hygroma and whether its wall was able to be completely removed.
Treatments for removal of cystic hygroma are surgery or sclerosing agents which include:
- Bleomycin
- Doxycycline
- Ethanol (pure)
- Picibanil (OK-432)
- Sodium tetradecyl sulfate
The standard treatment of COC is enucleation and curettage (E&C). Recurrence following E&C is rare.
A staphyloma is an abnormal protrusion of the uveal tissue through a weak point in the eyeball. The protrusion is generally black in colour, due to the inner layers of the eye. It occurs due to weakening of outer layer of eye (cornea or sclera) by an inflammatory or degenerative condition.
It may be of 5 types, depending on the location on the eyeball ("bulbus oculi").