Physical Address

304 North Cardinal St.
Dorchester Center, MA 02124

Childhood cataracts


For videos accompanying this chapter see ExpertConsult.com . See inside cover for access details.

Cataracts, which are opacities of the crystalline lens, are an important problem in children worldwide. The incidence varies, but in the UK the adjusted cumulative incidence at age 1 year is 2.49/10,000, increasing to 3.46/10,000 by age 15 years. Bilateral cataracts are more common than unilateral.

Detection

Because of visual deprivation with both unilateral and bilateral cataracts, successful management requires early detection and referral for treatment. The red reflex should be assessed by direct ophthalmoscopy in the newborn nursery and at well-child check-ups. If an abnormality is detected, referral should be made to an ophthalmologist. Pupillary dilation may be necessary to detect incomplete cataracts.

Children with visually significant unilateral cataracts often present with strabismus and dense amblyopia. However, visual behavior will usually be unaffected by a unilateral cataract, and for this reason the parents may not be aware of it. In contrast, dense bilateral cataracts are usually associated with impaired visual behavior ( Fig. 35.1 ). If nystagmus develops, the visual prognosis is worse, although it may be reversed by prompt treatment.

Fig. 35.1, Nuclear cataracts. This 4-month-old child presented with nystagmus and bilateral nuclear cataracts. His parents had noted that he would stare at room lights. After bilateral lensectomies and contact lens correction, his nystagmus improved. After long-term follow-up, his best-corrected visual acuity is 20/25 when both eyes are tested together, but 20/50 when each of his eyes is tested separately due to latent nystagmus.

Morphology

The morphology of cataracts offers important clues to their age of onset and visual prognosis. In addition, it provides insights into the etiology of a cataract. When possible, a slit-lamp examination is invaluable in identifying the morphology. Refinements in the morphology can be obtained intraoperatively. The morphology is largely determined by the timing and nature of the insult and the anatomy of the lens ( Box 35.1 ).

Box 35.1
Morphological classification of infantile cataract

Anterior polar Central opacity on anterior capsule.

Nuclear Opaque lens material between anterior and posterior “Y” suture that may spread into the surrounding (especially posterior) cortex and often associated with posterior capsule plaque.

Lamellar Anterior and/or posterior cortical opacity not involving the nucleus.

Persistent fetal vasculature Combination of one or more of the following: retrolental membrane with or without visible vessels, patent or non-patent persistent hyaloid vessel, or stretched ciliary processes.

Posterior polar Opacity of the posterior capsule often with opacification of the adjacent cortex.

Posterior lentiglobus Posterior bowing of the posterior capsule with or without a pre-existing posterior capsule defect.

Total Entire lens is white.

Some types of cataracts have a better prognosis than others. For example, anterior polar ( Figs. 35.2–35.4 ), lamellar ( Fig. 35.5 ), and posterior lentiglobus ( Figs. 35.6 and 35.7 ) cataracts are associated with the best visual prognoses, whereas nuclear (see Fig. 35.1 ) and posterior polar ( Fig. 35.8 ) cataracts have poorer visual prognoses. Acquired cataracts generally have a more favorable visual prognosis than congenital cataracts ( Fig. 35.9 ).

Fig. 35.2, Anterior polar cataract. A small anterior polar cataract generally results in minimal visual deprivation, but may be associated with anisometropic amblyopia.

Fig. 35.3, Anterior polar cataracts in the right (A) and left (B) eyes. The child's mother, sister, and brother also had bilateral anterior polar cataracts.

Fig. 35.4, Anterior polar cataract. At birth, this child was noted to have a 1 mm anterior polar cataract. The cataract gradually increased in size until it was removed at 5 months of age.

Fig. 35.5, Lamellar cataract.

Fig. 35.6, Posterior lentiglobus.

Fig. 35.7, Bilateral posterior lentiglobus. This 8-month-old child presented with lentiglobus in both eyes. (A) There is a dense cataract overlying the lentiglobus in the left eye. (B) The lens cortex is still clear over the lentiglobus in the right eye.

Fig. 35.8, Posterior polar cataract. At birth the child was noted to have a small cataract. Part-time patching of the fellow eye was initiated. She was followed closely for progression of the cataract. At age 12 months the cataract was noted to have increased in size and she started to object to patching of the fellow eye so a lensectomy was performed.

Fig. 35.9, Total cataract in an 8-year-old with Coats disease following multiple intravitreal injections of anti-VEGF inhibitors and corticosteroids.

Certain types of cataracts are frequently associated with other ocular abnormalities. For example, nuclear cataracts are often associated with microphthalmos (see Fig. 35.1 ) while anterior polar cataracts (see Figs. 35.2–35.4 ) are more commonly associated with astigmatism. Partially reabsorbed (membranous) cataracts in an infant boy are suggestive of Lowe syndrome or Hallermann–Streiff–François syndrome ( Fig. 35.10 ). Wedge-shaped or sectional cataracts ( Fig. 35.11 ) may occur with Stickler syndrome and Conradi syndrome and may be due to Lyonization. Anterior lenticonus is suggestive of Alport syndrome whereas posterior subcapsular cataracts commonly occur with neurofibromatosis type II.

Fig. 35.10, Membranous cataract. Partially reabsorbed membranous cataract in a child with Hallermann–Streiff–François syndrome.

Fig. 35.11, Wedge-shaped cataracts. Peripheral wedge-shaped cataracts in a child with autism. Similar appearing cataracts occur in children with Stickler syndrome.

Persistent Fetal Vasculature

The term “persistent fetal vasculature” (PFV) describes a broad spectrum of ocular anomalies that may include a retrolental plaque ( Fig. 35.12 ) in a microphthalmic eye with prominent blood vessels on the iris and lens capsule, a shallow anterior chamber, and elongated ciliary processes ( , ). Less commonly, these patients may present with a vascularized pupillary membrane, microcoria, and an anterior capsular cataract ( Fig. 35.13 ). PFV is almost always unilateral. Over time, the lens may undergo spontaneous absorption or become swollen with loss of the anterior chamber and glaucoma. Usually the posterior pole is normal, but fibrous tissue from the hyaloid remnants may contract, causing peripapillary distortion or tractional retinal detachment. In some cases, the retrolental plaque may be adherent to the peripheral retina and a retinotomy may be required to extricate the retina from the retrolental plaque.

Fig. 35.12, Persistent fetal vasculature (PFV). (A) Mild PFV with hyaloid vessels attached to retrolenticular plaque. (B) Mild PFV with prominent iridohyaloid vessels and a large retrolenticular plaque. (C) PFV with a dense cataract and hairpin loops. (D) Severe PFV with stretching of the ciliary processes nasally and a dense cataract.

Fig. 35.13, Anterior persistent fetal vasculature. Vascularized pupillary membrane and prominent iridohyaloid vessels in an infant with microcoria.

Etiology

Bilateral

An etiology can be established in about 70% of children with bilateral congenital cataracts. The most common etiology in Europe and the United States are mutations in genes for lens proteins. Less frequently, cataracts can be associated with aniridia ( Fig. 35.14 ), trisomy 21 ( Figs. 35.15 and 35.16 ), Lowe syndrome ( Fig. 35.17 ), Hallermann–Streiff–François syndrome (see Fig. 35.10 and Fig. 35.18 ), or a variety of other ocular disorders and syndromes ( Box 35.2 ). Congenital rubella syndrome is a common cause of cataracts where rubella immunization rates are low.

Fig. 35.14, Aniridia. Polar cataracts in a child with aniridia. Macular hypoplasia is the limiting factor for vision in this eye rather than cataract.

Fig. 35.15, Trisomy 21. Nuclear cataracts in right (A) and left (B) eyes of an infant with trisomy 21.

Fig. 35.16, Trisomy 21. Cerulean cataract in a teenager with trisomy 21. A similar cataract was present in the fellow eye. Visual acuity was normal.

Fig. 35.17, Lowe syndrome. (A) “Chubby” cheeks and rounded forehead. Dense nuclear cataracts in right (B) and left (C) eyes.

Fig. 35.18, Hallermann–Streiff–François syndrome. Note the receding hairline and the small, red, upturned nose.

Box 35.2
Etiology of cataracts in childhood

Chromosomal

Trisomy 21

Turner syndrome

Trisomy 13

Trisomy 18

Cri du chat syndrome

Craniofacial syndromes

Cerebro-oculofacial skeletal syndrome

Lowe syndrome

Alport syndrome

Hallermann–Streiff–François syndrome

Drug-induced

Corticosteroids

Chlorpromazine

Inherited

Autosomal dominant

Autosomal recessive

X-linked

Inherited with systemic abnormalities

Dermatological

Crystalline cataract and uncombable hair

Cockayne syndrome

Rothmund–Thomson syndrome

Atopic dermatitis

Incontinentia pigmenti

Congenital ichthyosis

Ectodermal dysplasia

Werner syndrome

Muscular disease

Myotonic dystrophy

Neurometabolic disease

Zellweger syndrome

Meckel–Gruber syndrome

Marinesco–Sjögren syndrome

Infantile neuronal ceroid-lipofuscinosis

Skeletal disease

Smith–Lemli–Opitz syndrome

Conradi syndrome

Weill–Marchesani syndrome

Stickler syndrome

Bardet–Biedl syndrome

Rubinstein–Taybi syndrome

Noonan syndrome

Intrauterine infection

Rubella

Varicella

Toxoplasmosis

Herpes simplex

Toxocara canis

You're Reading a Preview

Become a Clinical Tree membership for Full access and enjoy Unlimited articles

Become membership

If you are a member. Log in here