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Lens Anomalies

CONGENITAL AND DEVELOPMENTAL CATARACTS

Jonathan H. Salvin and Hillary Gordon  

Cataracts are an opacification of the lens of the eye, typically associated with age. Congenital cataracts may present at or soon after birth, whereas developmental cataracts present during childhood. They may be unilateral or bilateral and may result in decreased visual acuity or blindness from the opacification and subsequent amblyopia (Fig. 5-1).

Etiology

The prevalence is 1 to 15 per 10,000 children.

Idiopathic (60% bilateral cases, 80% ­unilateral cases)

Familial (30% cases)

Genetic and metabolic diseases associated with cataract

Galactosemia

Alport’s syndrome

Fabry’s disease

Myotonic dystrophy

Diabetes mellitus

Trisomy 21

Trisomy 18

Trisomy 13

Systemic illnesses associated with cataract include:

Juvenile idiopathic arthritis

Systemic lupus erythematosus

Malignancies

Ocular abnormalities associated with cataract include:

Aniridia

Persistent hyperplastic primary vitreous (PHPV)

Anterior segment dysgenesis

Maternal infection associated with cataract include:

Rubella

Cytomegalovirus

Varicella

Herpes simplex virus

Toxoplasmosis

Syphilis

Signs and Symptoms

Variable lens opacity from small white spots in pupils to complete leukocoria

Decreased visual acuity

Asymmetric, diminished, or absent red reflex

Nystagmus

Photophobia

Failure to meet developmental milestones

Poor visual development in infants

Diagnostic Evaluation

Detailed history with specific attention to family history, trauma, systemic steroid use, radiation exposure, maternal infection, systemic illness in child, and visual developmental milestones or visual changes

Physical examination includes complete ophthalmologic examination with pupillary dilation, retinoscopy, slit-lamp examination, and visual acuity testing and indirect ophthalmoscopy

B-scan ultrasonography

Infants may require general anesthesia for full examination.

Full physical examination with attention paid to growth and developmental milestones and appropriate referral for genetic, infectious, and metabolic testing

Treatment

Cataract >3 mm, dense nuclear cataract, and cataract preventing full refraction or associated with nystagmus or strabismus are indications for surgery with or without intraocular lens replacement.

In children younger than 7 years of age, treatment should be initiated within weeks after diagnosis to avoid the development of amblyopia.

Partial cataracts may require surgery or may be managed medically depending on the extent of the cataract and the surgical risks. If visual acuity can accurately be measured to better than 20/50, pupillary dilation can be attempted for management. If the visual acuity cannot be accurately measured or is measure to be 20/50 or worse, surgery should be considered.

Postoperative aphakic refractive correction (glasses or contact lenses) immediately after surgery

Amblyopia treatment after cataract extraction

Appropriate referral of patient for evaluation and treatment of any underlying disease

Prognosis

Depends on the age at development diagnosis, treatment of the cataract, the type of cataract, the laterality, and surgical complications

In young children, postoperative prognosis depends on adherence to amblyopia treatment.

REFERENCES

Amaya L, Taylor D, Russell-Eggitt I, et al. The morphology and natural history of childhood cataracts. Surv Ophthalmol. 2003;48:125–144.

Lim Z, Rubab S, Chan YH, et al. Pediatric cataract: the Toronto experience-etiology. Am J Ophthalmol. 2010; 149(6):887–892.

Lin AA, Buckley EG. Update on pediatric cataract surgery and intraocular lens implantation. Curr Opin Ophthalmol. 2010;21(1):55–59.

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