There are various abnormalities of the pupils, iris, and lens in children. In most cases, timely diagnosis and management are critical. The assessment of visual acuity is the most integral facet of the ophthalmologic examination. More than half of the visual abnormalities in children are first discerned by their primary care physician. Many diagnoses, such as leukocoria, require prompt referral to an ophthalmologist. When in doubt, referral is a prudent approach in managing many of these diagnoses.

• Congenital cataracts are associated with intrauterine infections, such as congenital rubella and congenital varicella syndrome, and metabolic disorders. Congenital cataracts may be associated with Down, Edward, and Turner syndromes.

• One third of cataracts are hereditary, and nearly one third of cataracts in children have no identifiable etiology.

• Brushfield spots occur in up to 85% to 90% of children with Down syndrome, but they may be seen in normal children as well.

• Colobomas may occur in normal children or as part of genetic syndromes, such as CHARGE syndrome.

• Iritis and uveitis raise suspicion for conditions associated with systemic inflammation as in juvenile idiopathic arthritis (JIA).

• Hyphemas are often the result of blunt trauma to the globe.

• Small, centrally located cataracts are often clinically stable without an impact on vision.

• Leukocoria, or a white pupillary reflex, is an important clinical sign of intraocular tumors, such as retinoblastoma. Retinoblastoma is the leading malignant ocular tumor in children.

• Leukocoria is bilateral in 30% to 40% of cases.

• It is important to rule out scleral rupture or the presence of a foreign body when chemosis is present.

• Kaiser–Fleischer rings are rims of brown-green pigment in the cornea. Although occasionally visible to the naked eye, slit lamp examination is sometimes necessary to visualize these rings.

• Iritis is characterized by pain, tearing, photophobia, and decreased visual acuity. Symptoms may be acute and develop rapidly over 1 to 2 days. Iritis may be asymptomatic in children with rheumatologic disease such as JIA.

• Blunt traumatic injuries to the eye warrant an inspection of the anterior chamber, the space between cornea and iris, for hyphemas.

• Small hyphemas require slit lamp examination, whereas larger ones may be visible to the naked eye.

• When blood pools in the inferior portion of the eye from a hyphema, it often causes elevated intraocular pressure and decreased visual acuity.

Figure 15-1 Aniridia.

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