Ординатура / Офтальмология / Английские материалы / Handbook of Pediatric Retinal Disease_Wright, Spiegel, Thompson_2006

from most other entities and are discussed at length in Chapter 11.

The second half of the chapter reviews some of the same disorders from another point of view. Many of the retinal diseases seen in children are part of a larger metabolic or morphological syndrome with physical stigmata. The second section presents categories of disease or dysmorphism commonly associated with retinal disease. Any child presenting with a retinal disorder should have an evaluation by a pediatrician who has been appraised of the most likely associated findings; however, ophthalmologists, after all, are medical doctors and a brief preliminary physical examination in the office can evaluate skin, teeth, palate, fingers and toes. Similarly, a careful, directed history should be taken. Extra digits may have been removed at birth, and parents may not mention the hearing, renal, or neurological problems in other family members unless they are asked about them specifically. Recognition of these syndromes is important for appropriate counseling and general medical care. In several of these disorders, ophthalmologists, not pediatricians, are usually the first physicians with an opportunity to make the diagnosis. Some of these diseases are treatable if detected at an early stage. Even in those for which no treatment is available, prompt recognition may prevent parents from unknowingly having another affected child and, at the very least, may be useful in planning school and other activities for the child. In addition, most parents and children are much better able to accept and live with their disease if they have some knowledge and understanding of why things have occurred and what to expect.

In this chapter, categories and diseases are listed in the tables. All these lists are organized according to the incidence of the diseases in children; that is, the most common causes of a given clinical picture in children are listed first, whereas the least common or very rare causes are last. In some cases, disorders that are extremely common in adults are rare in children. These diseases are marked with an asterisk to indicate that in adolescents or older persons, the differential is notably different. A list of treatable disorders is also given, with a brief discussion in the text of some of the treatment options. Because new treatments may have become available after the writing of this chapter, this list should not be considered all inclusive.

TABLE 13-1. Patterns of Retinal Disease in Children.

1.Cherry-red spot

a.Tay–Sachs disease (GM2 gangliosidosis type I)

b.Sandhoff Disease (GM2 gangliosidosis type II)

c.Niemann–Pick disease

d.Sialidosis

e.Farber’s lipogranulomatosis

f.Metachromatic leukodystrophy

g.GM1 gangliosidosis

h.Central retinal artery occlusion*

i.Trauma (retinal edema)

2.Vascular tortuosity

a.Retinopathy of prematurity

b.Fabry’s disease

c.Sickle cell disease

d.Respiratory insufficiency

e.Incontinentia pigmenti

f.Fucosidosis

g.Coats’ disease

h.Optociliary shunt vessels

i.Peripapillary vascular loops

j.Capillary hemangioma

k.Cavernous hemangioma

l.Diabetes mellitus*

m.Racemose hemangioma

n.Familial retinal arteriolar tortuosity

o.Eales’ disease*

3.Macular colobomas

a.Typical macular coloboma

b.Leber’s congenital amaurosis

c.North Carolina macular dystrophy

d.Toxoplasmosis

e.Aicardi’s syndrome

f.Idiopathic infantile hypercalcuria

g.Pathologic myopia

h.Down’s syndrome (trisomy 21)

i.Lymphocytic choriomeningitis virus

4.Foveal hypoplasia

a.Albinism

b.Aniridia

c.Prader–Willi syndrome

d.Isolated foveal hypoplasia

5.Retinal detachment

a.Retinoblastoma

b.Retinopathy of prematurity

c.Trauma*

d.Coats’ disease

e.Stickler’s syndrome

f.Norrie disease

g.Retinal dysplasia

h.Persistent hyperplastic primary vitreous (persistent fetal vasculature)

i.Incontinentia pigmenti

j.Familial exudative vitreoretinopathy

k.X-linked juvenile retinoschisis

l.Inflammatory/exudative

m.Optic nerve pit

n.Ehlers–Danlos VI

o.High myopia/lattice degeneration*

p.Spondyloepiphyseal dysplasia congenita

FIGURE 13-2. Cherry-red spot secondary to central retinal artery occlusion. The fellow eye was normal. Note the refractile emboli in several of the vessels. Emboli are not always seen.

cherry-red spot has been reported to disappear over time as the ganglion cells die and the material deposited there is released. Therefore, the absence of a cherry-red spot, especially in older children, does not rule out the presence of a suspected metabolic disorder.37 Aside from metabolic disorders, retinal edema is the other likely cause of a cherry-red spot. The most common etiology is a cilioretinal or central retinal artery occlusion (Fig. 13-2), which is extremely rare in children but more common in adults. Underlying causes of thrombotic diathesis, such as homocystinuria, Fabry’s disease,71,72 blood dyscrasias, oral contraceptives, or history of radiation therapy should be suspected. Retinal artery occlusion is usually unilateral, not bilateral as is the case in metabolic disease. Trauma with resulting retinal edema must also be ruled out.

Vascular Tortuosity

Tortuosity of retinal aterioles and venules, often associated with vascular dilatation, can be a congenital or acquired condition in children. Congenitally anomalous blood vessels are seen in

Coats’ disease (Fig. 13-3), racemose hemangioma, capillary and

even if the disease regresses, or vessels may be straightened and dragged. Children with chronic respiratory insufficiency from a variety of causes may have dilated, tortuous retinal vessels in the posterior pole;83 this may be similar in etiology to the vascular tortuosity seen in some adults with hypoxemia and hypercapnia from chronic obstructive pulmonary disease.77 Optociliary shunt vessels are engorged vessels on or near the disc that may occur with compressive lesions such as orbital meningiomas or gliomas and must be differentiated from benign peripapillary loops. Incontinentia pigmenti is a rare X-linked dominant disorder that may have peripheral vascular changes resembling ROP. Affected females may be mentally retarded and have characteristic skin changes. As in ROP, cryotherapy or laser treatment may prevent cicatricial disease and blindness.58 Enzyme replacement therapy may be beneficial in Fabry’s disease.66

Macular Coloboma

Macular colobomas are excavated, whitish lesions surrounded by normal retina. A typical coloboma (Fig. 13-5) is a developmental defect resulting from failure of closure of the fetal fissure in the embryonic optic cup. These colobomas may include the iris and lens as well as the retina and choroid; they are typically inferonasal and may involve the optic nerve as well as some or all of the macula. Although vision is often severely affected, it does not necessarily correlate with the severity of the lesion ophthalmoscopically. Predictions of level of vision are best delayed until the child is old enough for some form of acuity testing. Typical colobomas are often idiopathic, especially if unilateral, but they may be inherited as an autosomal dominant trait with variable expressivity, with or without other congenital anomalies.5 Typical colobomas, especially if bilateral, may be markers of chromosomal abnormalities, or syndromes such as the CHARGE86 association, or Goltz syndrome. Isolated colobomatous microphthalmia has been mapped to chromosome 15q12–q15.52 Atypical colobomas, which may be congenital or acquired, are not secondary to abnormal closure of the fetal fissure but have a white excavated appearance similar to typical colobomas. Pathological myopia (Fig. 13-6), intrauterine infections such as toxoplasmosis (Fig. 13-7), lymphocytic choriomeningitis virus (LCMV), or a retinal dystrophy such as North Carolina macular dystrophy are often

FIGURE 13-7. Toxoplasmosis may leave a colobomatous scar in the macular area. With time, these scars often develop characteristic hyperpigmentation.

the cause. Children with Aicardi’s syndrome, in which females have infantile spasms, an absent corpus callosum, and chorioretinal scars, may have coloboma-like lesions in the posterior pole. Patients with trisomy 21 (Down’s syndrome) may have coloboma-like lesions in the macula.91 Development of a macular coloboma in Leber’s congenital amaurosis is a poor prognostic sign for stability of vision.29

Foveal Hypoplasia

Foveal hypoplasia is recognized clinically as a dulled or absent foveal reflex in a child with poor vision and, usually, nystagmus. An idiopathic form has been described, which may be sporadic or autosomal dominant.54,55 This form is the exception, however, and an underlying ocular syndrome can often be found. The most common is one of the forms of ocular or oculocutaneous (OCA) albinism. This disorder should be suspected in any child or adult presenting with congenital nystagmus. The stigmata are present at birth, but the diagnosis is often not made until much later. The hallmarks are iris transillumination defects (Fig. 13- 8) and, in the oculocutaneous forms, diffuse hypopigmentation. In complete oculocutaneous albinisim, the diagnosis is obvious: the hair is white, the skin has no pigmentation, and the irides