A full-term infant is delivered vaginally after a pregnancy that was uncomplicated. On initial examination it is noted that the baby has cloudiness of both lenses, which obscures the red reflex. The family history is significant for the father having had eye surgery at a young age. The physical examination otherwise is unremarkable.
What is the most likely diagnosis?
What is the next step?
ANSWERS TO CASE 55: Congenital Cataracts
Summary: A healthy full-term infant with bilateral lens cloudiness and a family history of ophthalmologic condition requiring surgery.
• Most likely diagnosis: Congenital cataracts.
• Next step: Ophthalmologic evaluation and complete evaluation for possible associated hereditary, metabolic, or infectious causes.
1. Understand the conditions associated with congenital cataracts.
2. Understand the development of amblyopia.
This newborn presents with an isolated eye finding consistent with cataracts and a positive family history of eye disease. It is important to assess the infant for common chromosomal, metabolic, and infectious entities associated with congenital cataracts.
Cataract: Opacity of the lens. Depending on the size and location, the cataract may affect vision.
Aphakia: Absence of the lens.
Amblyopia: Loss of vision caused by underuse of one eye.
Congenital cataracts occur in approximately 2 of 10,000 births. They are an isolated condition in 50% to 60% of cases and part of a syndrome in 20% to 25% of cases. Many of the cases of isolated congenital cataracts are hereditary in origin, with most being transmitted through autosomal dominance. Developmental cataracts may result from prenatal infections, such as toxoplasmosis, cytomegalovirus, syphilis, rubella, and herpes simplex virus, or secondary to metabolic diseases such as galactosemia, homocysteinemia, galactokinase deficiency, abetalipoproteinemia, Fabry, Hurlers, Nieman-Pick, Refsum, and Wilson. Intraocular abnormalities including retinopathy of prematurity, retinitis pigmentosa, uveitis, and retinal detachment may lead to the development of cataracts. Chromosomal anomalies associated with cataracts include trisomies 13, 18, and 21; Turner syndrome; and various depletion and duplication syndromes.
Evaluation of infants presenting with congenital cataracts includes physical examination, assessment of TORCH titers, evaluation for galactosemia (part of the newborn metabolic screening test), a full ophthalmologic examination, and ocular ultrasound in cases with completely opaque lenses. Parents should also have full dilated ophthalmologic evaluation including slit lamp examination.
If visual disturbance is significant, surgical removal of lens is performed. Surgery may occur as early as 2 to 4 weeks after birth. The infant is then fitted with refraction contact lens; intraocular lens placement is used in older children and has recently been used in children under 2 years of age. Infants with unilateral cataracts without surgery may need patching of their good eye to prevent the development of deprivation amblyopia.
In addition to deprivation amblyopia (opacity in the visual axis), other forms of amblyopia include strabismic (poorly formed image due to deviated eye), ametropic (high refractive error in both eyes), and anisometropic (unequal vision between the eyes). For all of these lesions, the common cause of pathology for the child is interference with the development of clear images during the critical period of eye development in infancy and early childhood. Amblyopia is usually asymmetric and is diagnosed when an ophthalmologic examination demonstrates reduced acuity otherwise not explained by an organic etiology. Early detection of this condition is key since recovery of eye function is more likely the younger the child.
Treatment for amblyopia must first include removal of any opacity and then ensuring well-focused retinal images are being produced in each eye; glasses may be necessary. Strengthening of the “weak” eye is accomplished by covering the “good” eye (occlusion therapy) or using eye drops in the “good” eye (penalization therapy). Close monitoring by a pediatric ophthalmologist will ensure that the treatment maximizes the benefits to the amblyoptic eye while not causing amblyopia to develop in the nonaffected eye.
55.1 A full-term, small for gestational age newborn girl presents with cataracts, petechiae, and a continuous machine-like murmur. Which of the following statements is accurate?
A. This infant needs an audiology evaluation as sensorineural hearing loss is a common association.
B. This infant needs a renal ultrasound as she is likely to have renal abnormalities.
C. Treatment of her condition includes 14 days of intravenous penicillin after evaluation of her cerebrospinal fluid.
D. The infant’s condition is likely to have occurred due to a maternal illness during the third trimester.
E. Intravenous antiviral therapy should be initiated and viral cultures should be obtained.
55.2 A healthy 2-week-old girl has yellow discharge from her left eye. Her mother had early prenatal care, the baby was delivered vaginally, and she was discharged at 48 hours of life. Within the first few days of life, the mother noted that the baby had increased tear production in her left eye, which now has yellow discharge. She has red reflexes bilaterally, her pupils are equal and reactive to light, and she has no scleral injection. She has left-sided mucous ocular discharge. The next step is to:
A. Administer intravenous antibiotic therapy.
B. Begin a course of oral antimicrobial treatment.
C. Begin a course of topical antimicrobial treatment and nasolacrimal massage and warm water cleansing.
D. Incise and drain the area.
E. Refer the child for an outpatient ophthalmologic evaluation.
55.3 A 4-month-old infant has excessive right-sided tearing. His mother states he becomes irritable in bright light and calms in a darkened room. On examination, he has eye asymmetry, with the right eye appearing to be larger than the left. Which of the following statements is accurate?
A. Warm compresses and gentle massage are first-line therapy.
B. In most cases, treatment is nonsurgical.
C. The infant has the classic features of Down syndrome.
D. Immediate systemic antibiotic therapy will reduce complications.
E. Immediate referral to a pediatric ophthalmologist is warranted.
55.1 A. This infant has the classic features of congenital rubella syndrome including low birth weight, heart defect (patent ductus arteriosus), and congenital cataracts. Other clinical findings associated with congenital rubella syndrome include purpura, hepatosplenomegaly, jaundice, retinopathy, glaucoma, pulmonary artery stenosis, meningoencephalitis, thrombocytopenia, and hemolytic anemia. Long-term sequelae of congenital rubella include sensorineural hearing loss, neurodevelopmental abnormalities, endocrine disease, and hypogammaglobulinemia. Maternal infection may or may not be clinically apparent, and infection during the first month is most likely to result in fetal infection with the involvement of multiple organs.
55.2 C. This infant had excessive tear production that later became a mucopurulent discharge but had an otherwise normal ophthalmologic examination. Of note, the conjunctiva is not inflamed and the cornea is not involved. Initial treatment includes topical antibiotic therapy and nasolacrimal duct massage two to three times daily with warm water eyelid cleansing.
55.3 E. A history of excessive tearing and photophobia and examination findings of corneal enlargement suggest an immediate evaluation for congenital glaucoma is indicated as treatment is surgical. Infantile glaucoma occurs in 1 in 100,000 births with a classic triad of tearing, photophobia, and blepharospasm. It may be isolated or occur with various conditions, including congenital rubella, neurofibromatosis type 1, mucopolysaccharidosis I, Lowe oculocerebrorenal syndrome, Sturge-Weber syndrome, Marfan syndrome, and several chromosomal abnormalities. The increased intraocular pressure can lead to expansion of the globe and corneal damage.
Galactosemia is associated with cataracts.
Workup of an infant with congenital cataract includes TORCH titers.
Amblyopia must be diagnosed at an early period so that occlusive or penalization therapy may be instituted on the unaffected eye to maximize improvement to the vision on the affected eye.
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