Ординатура / Офтальмология / Английские материалы / Handbook of Pediatric Eye and Systemic Disease_Wright, Spiegel, Thompson_2006

TABLE 6-10. Ocular Manifestations of Sturge–Weber Syndrome (SWS).

1.Orbital General

Exophthalmos Lids

Ptosis

Port-wine stain of eyelid

2.Extraocular

Sclera

Nevoid marks or vascular dilation of the episclera

Telangiectasia of the episclera

Large, anomalous vessels in the conjunctiva

Oculocutaneous melanosis

3.Intraocular Anterior segment

Increased corneal diameter Reduced corneal reflex Iris discoloration

Telangiectasia of the iris with heterochromia Dilation and tortuosity of iris vessels Sluggish pupils

Anisocoria or other disturbances in pupil reaction Coloboma of the iris

Deep anterior chamber angle Buphthalmos

Media

Ectopia lentis

Spontaneous dislocation of the lenses Choroid

Choroidal angiomata Choroidal hemangioma

Retina

Dilation and tortuosity of retinal vessels Retinal arteriovenous aneurysm Varicosity of retinal veins

Retinitis pigmentosa Glioma

Retinal detachment

Central retinal vein occlusion Optic nerve

Arteriovenous angiomas Papilledema

Optic atrophy Optic nerve cupping

Optic nerve coloboma Optic nerve drusen

4.Other

Strabismus

Nystagmus

Loss of vision (any degree)

Cortical blindness

Abnormal visual field caused by lesion in optic tract

Hemianopia

Secondary glaucoma (late)

Anisometropia

FIGURE 6-8. A child with Sturge–Weber syndrome (SWS) has nevus flammeus and glaucoma on left side of the face and eye.

ocular symptoms with the diffuse hemangioma (7.6 years) is earlier than with the solitary type (38.7 years).

Fluorescein angiography may illustrate early filling with late staining. Diffuse hemangiomas may be difficult to detect. Sometimes the color change at the change at the border of the lesion may be visualized. The appearance of an optic nerve buried in a sea of “tomato catsup” is the pathognomonic picture in a child with SWS.104 As one alternately views the fundi of the involved and the normal eye, the primary finding is simply one of the dramatic color differences in the two fundi. The involved eye has a bright red fundus reflex compared to the normal eye. Fluorescein angiography may illustrate early filling with late

FIGURE 6-9. A 17-year-old patient with bilateral nevus flammeus and bilateral episcleral vessels OU.

staining. Other vascular anomalies of the eye include telangectasias of the conjunctiva, episclera, or iris, which may result in heterochromia.

Glaucoma occurs in approximately 71% of patients and is more common when the cutaneous hemangioma involves the eyelid and when prominent conjunctival or episcleral hemangiomas are present.103 In a large retrospective study, SWS glaucoma had a bimodal onset, beginning before 2 years of age or after 5 years.103 The early-onset group has trabeculodysgenesis with a flat, anterior iris insertion. Their presentation resembles that of primary infantile glaucoma (Fig. 6-10). Later-onset glaucoma is secondary to elevated episcleral venous pressure, although anomalous angle structures may play a role as well.17,103

were present in 98% and extracranial ones in 52%. The prevalence of glaucoma was 60%, with an age of onset from 0 to 41 years. Seizures were present in 83% (onset, 0–23 years), and neurological deficit occurred in 65%. A younger age of onset of seizures was associated with a worse prognosis.102

Treatment and Prognosis

There is some tendency for the facial angioma to become darker and more nodular with increasing age. Past treatments aimed at disguising the lesions were entirely unsatisfactory. In adolescents with well-controlled seizures and normal intelligence, the facial nevus flammeus is a great problem. Prior treatment with dermabrasion or surgical resection with split-thickness skin grafting often resulted in unacceptable scarring. Tunable dye laser therapy is the current preferred modality for treating nevus flammeus.

Worsening seizures and progressive intellectual deterioration present the major neurological problem in SWS. Most authorities favor drug therapy for management of the epilepsy, reserving neurosurgical procedures (hemispherectomy, lobectomy) for patients refractory to medical management.55,81 Management of the choroidal hemangiomas brings similar therapeutic dilemmas for treating ophthalmologists. Prominent episcleral or choroidal hemangiomas increase the risk of choroidal effusion and expulsive hemorrhage at surgery. Most of these vascular malformations can cause exudative retinal detachment, leading to intractable secondary glaucoma. Treatment with laser photocoagulation has produced favorable results when initiated before the development of significant exudation, but the ultimate success rate is low. Low-dose external beam radiotherapy or plaque radiotherapy over the area of the tumor are effective in reducing or eliminating associated exudative retinal detachment.

Management of glaucoma is tailored to the individual case. Initial management of glaucoma is usually with aqueous suppressants. Lantanoprost has not been useful in SWS patients with glaucoma.1 Goniotomy or trabeculectomy may be safe, initial alternatives to conventional filtration surgery. Preventive measures such as preplaced scleral sutures to allow rapid wound closure and prophylactic posterior sclerostomies are advocated by some. Multiple procedures including placement of drainage devices and cycloablation may be necessary to adequately control intraocular pressure.

KLIPPEL–TRENAUNAY SYNDROME

Klippel–Trenaunay syndrome (KTS) consists of a cutaneous hemangioma involving an extremity, along with varicosities and hypertrophy of the bone and soft tissue of the affected limb.

Historical Perspective

In 1869, Trelat-Monod recognized the association between limb hypertrophy and vascular dilation. Klippel and Trenaunay, in 1900, reported the triad of cutaneous hemangiomata, hemihypertrophy, and varicosities, calling it “naevus variqueux osteohypertrophique.”53

Incidence

The incidence of KT syndrome is not established.

Etiology

The etiology of KTS is unknown.

Ophthalmic Manifestations

Most of the ocular findings result from vascular malformations through the eye and orbit. The affected eye is generally ipsilateral to the affected limb. Vascular malformations include orbital varices and retinal varicosities. Glaucoma, cataracts, heterochromia, and Marcus-Gunn pupil and have been reported.60,92 Ocular manifestations of KTS are listed in Table 6-11.

Clinical Assessment

In addition to clinical examination, laboratory evaluation utilizes color duplex ultrasonography, MRI, lymphoscintigraphy, and plain radiography.

Systemic Associations

Patients with KT syndrome may have cutaneous capillary malformations, abnormal development of the deep and superficial veins, and mixed vascular malformations including capillary, venous, arteriolar, and lymphatic systems. Cutis marmorata

TABLE 6-11. Ocular Manifestations of Klippel–Trenaunay Syndrome (KTS).

1.Orbital/external General

Venous angioma (congenital varix) Exophthalmos

Enophthalmos

Regional hypertrophy of orbital contents Lids

Ptosis

2.Extraocular

Conjunctiva

Telangiectasias

Angioma

Sclera

Angioma

Melanosis

3.Intraocular Anterior segment

Anomalous angle structures Iris coloboma Heterochromic irides

Lens Cataracts

Central nuclear opacity Choroid

Choroidal angioma Chorioretinal scar

Retina

Retinal varicosities Tortuosity of retinal vessels Central retinal vein occlusion Retinal holes

Retinal dysplasia

Astrocytic proliferations of the retinal NFL Optic nerve

Optic nerve enlargement Optic nerve hypoplasia Optic nerve variant

Tilted disc with telangiectatic vessels

4.Other

Glaucoma

POAG (primary open angle)

Congenital

Strabismus

Exotropia

Esotropia

if the patient develops Kasabach–Merritt syndrome with high output cardiac failure.15 Some children may undergo resection of varicose veins.

WYBURN-MASON SYNDROME

Wyburn-Mason syndrome (WMS) is considered a neurocutaneous syndrome by many authors. It is characterized by arteriovenous malformations (AVM) of the brain, especially the midbrain, in conjunction with an AVM of the ipsilateral retina.

History

In the English literature, the association of the typical AVMs of the brain and central nervous system is attributed to WyburnMason after his 1943 article.114 However, 6 years earlier, Bonnet, Dechaume, and Blanc had reported the association of retinal vascular malformations with ipsilateral cerebral AVMS and facial nevi.7

Incidence

The incidence is unknown.

Etiology

WMS is a rare, sporadic syndrome with ophthalmologic and cerebral manifestations.

Ophthalmologic Features

The ocular manifestations of WMS are the most important clue to diagnosis (Table 6-12). However, retinal involvement is not essential for the diagnosis of WMS.11 In Wyburn-Mason’s original series, only 14 of 20 patients had both intracranial AVMs and retinal AVMs. The retinal lesion consists of a markedly dilated and torturous arteriole contiguous with a similar-appearing vein; there is no intervening capillary bed (Fig. 6-12). Many prefer the designation of racemose hemangioma instead of AVM, noting that a definite communication cannot always be demonstrated.33 On fluorescein angiography there is a rapid transit of dye through the arteriolar and venous communication, typically

without leakage. Thus, this condition is often asymptomatic and nonprogressive. If symptoms develop, they usually appear before age 30.

Vision may be normal or severely reduced depending on the location of the retinal lesions. Peripheral lesions usually cause little or no problem, in contrast to those situated near the posterior pole.33 Children with posterior lesions may present with strabismus.

TABLE 6-12. Ocular Manifestations of Wyburn-Mason Syndrome (WMS).

1.Orbital General

Pulsating proptosis Exophthalmos

Intraorbital arteriovenous malformation (AVM) Enlarged optic foramen

Proptosis Lids

Ptosis

2.Extraocular

Conjunctiva

Congestion bulbar conjunctiva

Abnormally dilated conjunctival vessels

3.Intraocular Anterior segment

Reduced corneal reflex/corneal opacities

Pupillary abnormalities (anisocoria, sluggish pupils, or other disturbances of pupil reaction)

Abnormally dilated iris vessels Retina

Retinal arteriovenous aneurysm Varicosity of retinal veins Tortuosity of retinal veins

Optic nerve

Optic nerve arteriovenous angioma Optociliary shunt vessels Papilledema

Optic atrophy

4.Other

Strabismus

Esotropia

Exotropia

Nystagmus

Loss of vision (any degree)

Homonymous hemianopia

External ophthalmoplegia

Ocular ischemia

Neovascular glaucoma