Ординатура / Офтальмология / Английские материалы / Pediatric Ophthalmology for Primary Care 3rd edition_Wright, Farzavandi_2008

Figure 17 6.

Congenital entropion demonstrating in-turning of the lower lid margin. The tarsal plate is not in an upright position.

correction is warranted. Surgery can be delayed as long as the corneal find ings are not severe. In contrast to epiblepharon, the surgical correction of entropion is complex.

Ectropion

Ectropion is a condition that results in the eyelids turning out (Figure 17 7). Childhood ectropion is rare, with the most common causes being congeni tal or cicatricial. Congenital ectropion due to insufficient eyelid skin causes the eyelid margin to pull out away from the eyeball. Cicatricial ectropion is secondary to scarring or loss of the skin after trauma, radiation, or prior sur gery. A special form of ectropion, called euryblepharon, is a drooping of the lower lid and eversion so the inferior tarsal conjunctival pulls away from the globe (see Euryblepharon later in this chapter).

Figure 17 7.

Patient with esotropia and congenital ectropion of all 4 eyelids. This resulted in corneal ulcerations of the left eye.

Treatment of ectropion consists of release of the traction by placement of a skin graft, flap, or skin and muscle flap. Because congenital ectropion occurs with many other findings (eg, euryblepharon, eyelid tumors, blepha rophimosis syndrome), other surgery often needs to be performed at the same time.

Eyelid Colobomas

A coloboma is an embryologic cleft with abnormal closure (Figure 17 8). Eyelid colobomas occur from delayed or incomplete union of the meso dermal sheaths of the frontonasal and maxillary processes. They are often associated with other ocular, periorbital, or facial defects. Eyelid colobomas can occur in the upper or lower eyelid. Upper eyelid colobomas are often full thickness and triangular in shape (occasionally quadrilateral or irregular). They are most often found medially, and the size ranges from a tiny indenta tion to the full length of the eyelid. They can be unilateral or bilateral. Upper eyelid colobomas often cause corneal exposure problems, especially if the defect is greater than one third the width of the eyelid.

In contrast, lower eyelid colobomas are usually partial thickness (with some remnants of orbicularis, tarsal remnants, cilia, or granular structures) and rounded. They are found most often laterally, and the length ranges from a tiny indentation to the full length of the eyelid. These also are found unilaterally or bilaterally. Lower eyelid colobomas can also cause corneal exposure problems and often cause trichiasis.

Treatment of eyelid colobomas depends on the status of the cornea. If there is minimal corneal exposure, medical treatment with drops or oint ments is indicated, with elective surgery during the first 4 years of life. If

Figure 17 8.

Patient with left lower lid coloboma and associated left upper lid ptosis.

moderate damage is present, medical treatment with drops and ointments is indicated with possible use of soft contact lenses and close follow up. If the eye responds to treatment, elective surgery can be performed during the first 4 years of life. If the corneal problems persist, reconstructive surgery should be done sooner. Finally, if severe corneal damage is present, the previously described temporizing measures should take place until surgery can be per formed. Because surgery is easier to perform when the patient is older due to increased laxity of the surrounding tissues, surgery should be delayed until it is necessary or there is enough laxity of the surrounding tissues.

Blepharophimosis Syndrome

Blepharophimosis syndrome is an autosomal dominant syndrome with near 100% penetrance. It is found in males more often than females. The most common findings with blepharophimosis syndrome include ptosis, blepharophimosis, epicanthus inversus (abnormal slant of epicanthus), and telecanthus (wide intercanthal distance and normal interpupillary distance) (Figure 17 9). Other findings can include ectropion, trichiasis, punctal or canalicular malformations, broad and flat nasal bridge, bone deficiency at the supraorbital rim, strabismus, nystagmus, and optic disc colobomas.

Treatment of the blepharophimosis syndrome depends on the specific problems. The ptosis is repaired as described earlier in this chapter. The blepharophimosis, epicanthus inversus, and telecanthus can be repaired if the parents so desire.

Figure 17 9.

Patient with blepharophimosis syndrome. Note the ptosis, phimosis, telecanthus, and epicanthus inversus.

Euryblepharon

Euryblepharon is a type of ectropion associated with excess horizontal eyelid length and decreased vertical eyelid skin (Figure 17 10). As a result, the eye lids are pulled away from the eyeball and give an appearance of ectropion.

It is most apparent in the lower eyelids; however, the upper eyelids can be involved. The cause of congenital euryblepharon is not known. It may be associated with other eyelid anomalies, including ptosis and telecanthus.

Associated findings of nystagmus and esotropia have also been reported. It may be inherited, and an autosomal dominant variety has been reported.

Treatment of euryblepharon consists of reformation of the lateral canthal angle, removal of excess horizontal eyelid tissue, and replacing the deficient eyelid skin with skin grafts or flaps. Timing of the surgery will depend on the status of the cornea as described in Eyelid Colobomas earlier in this chapter.

Cryptophthalmos

Cryptophthalmos is a condition that results in failure of eyelid formation (Figure 17 11) and is often bilateral and symmetric. Autosomal recessive and autosomal dominant inheritance have been reported. The globe is often abnormal, resulting in poor visual prognosis. Cryptophthalmos is divided into 3 types: the complete variety, the incomplete variety, and the symbleph aron variety.

In the complete variety, the eyelids do not form and the eyelid skin grows continuously from the forehead to the cheek, covering the underlying globe. The globe is usually abnormal. The incomplete variety presents with facial skin fusing to the medial aspect of the globe, with no eyelid struc tures in that area. The lateral eyelid is present and normal. The congenital symblepharon variety presents with fusion of the upper eyelid skin to the

Figure 17 10.

Patient with congenital euryblepharon.

Figure 18 1.

Photograph of a subluxated lens associated with Marfan syndrome. Classically, the lens is displaced up and out (superior-temporally), but in this case, the lens is down and in (inferior-nasally).

Echocardiography reveals dilation of the aortic root that is characteristic of this syndrome. Arachnodactyly is the most common skeletal feature in

Marfan syndrome and is present in 88% of patients. Patients tend to be very tall, and their upper body segment is much shorter by comparison with their arms and legs. Scoliosis may occur, generally worsening during the adoles cent growth spurt, and can be a deforming complication. Pectus excavatum and joint laxity are also present.

Useful clinical clues to the diagnosis can be elicited via the thumb and wrist signs. The thumb sign is considered positive when the thumb projects beyond the ulnar border when making a fist (thumb wrapped under the fin gers). The wrist sign is considered positive when the distal phalanges of the first and fifth digit overlap when wrapped around the opposite wrist.

Management of Marfan Syndrome

A patient suspected of having Marfan syndrome must have a cardiologic and ophthalmologic examination and be closely followed with yearly examinations. The ocular examination should include a cycloplegic refrac tion (with drops), intraocular pressure measurement, and a dilated fundus examination.

Ocular Treatment for Ectopia Lentis in Marfan Syndrome

A mild subluxation with most of the pupil covered by the lens is compat ible with excellent visual acuity and does not necessarily need treatment. A subluxated lens can cause astigmatism and distort vision if the edge of the

lens bisects the pupil. The first line of management is to prescribe glasses and contact lenses. Surgery consists of lensectomy (removing the lens); this should be reserved for cases with significant visual loss where spectacles and contact lenses are not effective.

The following are indications for lens extraction of a subluxated lens:

1.Lens positioning such that the lens edge bisects the pupil, making optical correction of either the aphakic or phakic part of the lens impossible

2.Displacement of the lens anteriorly, causing secondary glaucoma

Weill Marchesani Syndrome (spherophakia/brachymorphic)

Weill Marchesani syndrome is usually inherited as an autosomal recessive trait and consists of ocular and skeletal abnormalities (Table 18 3). The skeletal abnormalities are the reverse of Marfan syndrome, as patients with Weill Marchesani syndrome show brachymorphia and short stubby fingers and are of relatively short stature with hypoflexibility of the joints.

Ocular manifestations include microspherophakia (small round lens) and subluxation in virtually all patients. Subluxation is progressive, with the lens eventually becoming completely dislocated. Dislocation into the anterior chamber is common. Secondary pupillary block glaucoma is an important consideration in Weill Marchesani syndrome. Some authors have suggested a prophylactic laser peripheral iridotomy (surgical opening in the

iris) in all patients with Weill Marchesani syndrome as a preventive measure

Table 18-3. Findings in Weill-Marchesani Syndrome

From Wright KW, Chrousos GA. Weill-Marchesani syndrome with bilateral angle-closure glaucoma.

J Pediatr Ophthalmol Strabismus. 1985;22:129–132