Introduction

Glaucoma in infants and children is rarely encountered by the pediatrician in routine office practice. However, the pediatrician and primary care provider are often the first physicians to encounter the child with the early presenting signs of this vision-threatening process. Recent genetic, pharmacologic, and surgical advances in the management of this complex disease have improved the prognosis for affected patients. Therefore, familiarity with the clinical features of this disease is important in determining the need for timely intervention and treatment for affected children.

Diagnosis of pediatric glaucoma

In the typical adult patient, glaucoma presents as an occult disease process, potentially affecting vision with little or no warning if left untreated. In contrast, glaucoma presenting in the pediatric population often presents with

specific signs, symptoms, and clues readily apparent to the nonophthalmic specialist, in many cases requiring no special diagnostic examination equipment aside from what is routinely available.

It is useful to divide the childhood glaucomas into those of primary and secondary origin. Primary glaucoma is caused by a defect in the aqueous outflow mechanism of the developing eye and is often of genetic origin. Multiple associations with systemic and ocular abnormalities are noted in Table 12. Secondary glaucoma results from systemic disease, injury, drugs, or otherwise unrelated ocular disease. The causes of secondary glaucoma are numerous and will not all be considered in detail in this chapter.

The elevation of intraocular pressure (IOP) is axiomatic in making the diagnosis of glaucoma in children, but the manifestions of elevated IOP vary greatly depending on the age at presentation and upon the rapidity of pressure rise (Table 13). Infants and very young children often present to the pediatrician because the caregivers have noted that something is wrong

I.Primary glaucomas

11.Oculodentodigital dysplasia

12.Open-angle glaucoma associated with microcornea and absence of frontal sinuses

13.Mucopolysaccharidosis

14.Trisomy 13

15.Caudal regression syndrome

16.Trisomy 21 (Down syndrome)

17.Cutis marmorata telangiectasia congenita

18.Warburg syndrome

19.Kniest syndrome (skeletal dysplasia)

20.Michel syndrome

21.Nonprogressive hemiatrophy

22.PHACE syndrome

23.Sotos syndrome

24.Linear scleroderma

25.GAPO syndrome

26.Roberts pseudothalidomide syndrome

27.Wolf–Hirschhorn (4p) syndrome

28.Rabinow syndrome

29.Nail-patella syndrome

30.Proteus syndrome

31.Fetal hydantoin syndrome

32.Cranio-cerebello-cardiac (3C) syndrome

33.Brachmann–de Lange syndrome E. Associated with ocular abnormalities

1.Primary

2.Aniridia

a.Congenital glaucoma

b.Acquired glaucoma

3.Congenital ocular melanosis

4.Sclerocornea

5.Congenital iris ectropion syndrome

6.Peters anomaly

7.Iridotrabeculodysgenesis (iris hypoplasia)

8.Posterior polymorphous dystrophy

9.Idiopathic or familial elevated episcleral venous pressure

10.Anterior corneal staphyloma

11.Congenital microcornea with myopia

12.Congenital hereditary endothelial dystrophy

13.Iridocorneal endothelial syndrome (ICE)

II.Secondary glaucomas

b.Iris bombe with pupillary block

c.Trabecular endothelialization

D.Lens-induced glaucoma

1.Subluxation-dislocation and pupillary block

a.Marfan syndrome

b.Homocystinuria

c.Weill–Marchesani syndrome

2.Spherophakia and pupillary block

3.Phacolytic glaucoma

E.Following surgery for congenital cataract

1.Lens tissue trabecular obstruction

2.Pupillary block

3.Chronic open-angle glaucoma associated with angle abnormalities

F.Steroid-induced glaucoma

G.Secondary to rubeosis

1.Retinoblastoma

2.Coats disease

3.Medulloepithelioma

4.Familial exudative vitreoretinopathy

5.Chronic retinal detachment

H.Secondary angle-closure glaucoma

1.Retinopathy of prematurity

2.Microphthalmos

3.Nanophthalmos

4.Retinoblastoma

5.Persistent fetal vasculature

6.Congenital pupillary iris-lens membrane

7.Topiramate

8.Central retinal vein occlusion

9.Ciliary body cysts

I.Malignant glaucoma

J.Glaucoma associated with increased venous pressure

1.Cavernous or dural-venous fistula

2.Orbital disease

K.Secondary to maternal rubella

L.Secondary to intraocular infection

1.Acute recurrent toxoplasmosis

2.Acute herpetic iritis

3.Endogenous endophthalmitis

137

137 This patient with unilateral congenital glaucoma was referred by her mother’s obstetrician because the left eye‘didn’t look right’.Note left corneal enlargement with mild clouding. Tearing and photophobia were prominent symptoms.IOP was controlled following two goniotomies but cupping persists with poor vision in the left eye despite patching and spectacles.Right eye remains normal.

138

138 Severe bilateral corneal enlargement in congenital glaucoma.Corneas measured 15 mm right eye and 16 mm left eye at 10 months of age when referred for treatment (normal adult cornea measures 12 mm).Multiple surgeries have been required including diode laser treatment. Patient is now on topical and systemic glaucoma medication with borderline control 11 years later.Refraction is −9.50 + 1.00 × 180 right eye and −12.00 left eye.

with the eyes. Corneal clouding and ocular enlargement are hard signs not to be overlooked by the primary care provider, but the classic triad of epiphora, photophobia, and blepharospasm is often present in early childhood (137). These changes occur due to progressive corneal enlargement leading eventually to breaks in Descemet’s membrane and can be progressive over months to even years if left untreated. In contradistinction to glaucoma in the adult patient, progressive corneal enlargement can occur during the first 2 years of life up to 18 mm in extreme cases (138) creating severe myopia (nearsightedness), optic disc cupping, and even ocular rupture resulting from minor trauma.

Optic disc cupping (139) can be seen with the direct ophthalmoscope in the office setting. It can be reversible if the glaucoma is treated early and successfully. In contrast, once optic atrophy is noted the changes are irreversible and the vision is damaged permanently. Glaucoma presenting in older children often does so without the classic signs and symptoms noted above. Decreased vision, increasing myopia (especially asymmetric) and associated ocular disease (especially trauma) assume importance in suspecting the diagnosis.

Loss of vision from childhood glaucoma generally results from pathologic changes in the cornea and optic nerve and also from the development of unilateral and bilateral refractive errors resulting in amblyopia. This amblyopia can often be successfully treated if diagnosed early in the course of the disease.

Ocular examination

The eye examination of the infant or child in the pediatric office can be challenging, but it can also be a brief and directed affair for the primary care provider. Historical details, such as aversion to lights (even indoors) and tearing are commonly noted (140, 141). The presence of a family history of related eye problems is important to record. Trauma history (including forceps-related birth trauma, 142, 143), medications, systemic abnormalities, and ocular abnormalities are also important to review in some detail

140

140 Corneal clouding and photophobia in congenital glaucoma.Patient presented at

10 months of age unable to open his eyes when outside or with the room lights turned on. The mother was concerned because‘he always looks down’.

(see Table 12). If vision can be obtained, is it normal and equal in both eyes? Has there been a rapid and/or asymmetric myopic shift? Observation of the child is important: does he/she fixate and follow appropriately, is he/she uncomfortable with lights on in the exam room, or does he/she only open their eyes when the room lights are turned off? Utilizing the direct ophthalmoscope, is the cornea clear and the red reflex sharp? Are iris details easily seen and is the lens clear? These can all be assessed in seconds by the astute examiner.

141

141 Photograph of patient in Figure 140 taken in total darkness demonstrating bilateral corneal enlargement and corneal opacification.IOP was in the mid-30s (infant IOP normal range

10–12 mmHg) during examination under anesthesia.

142

142 Perinatal forceps injury with vertical corneal opacity in right eye.IOP was normal but corneal scarring persisted with astigmatism resulting in poor vision despite patching and spectacles.Left eye was normal.

143

143 Vertical corneal scar resulting from perinatal forceps injury.In this case astigmatism was mild and vision recovered to the 20/30 level with spectacles and patching.