A 2 month-old male came to his well-child care appointment. His mother did not have any concerns but had noted that his eyes were “dancing” for the past two days.
She says that his eyes would “roll-around” like a clock, and also would move up and down. He had been otherwise well so she decided to just wait for this appointment.
With further questioning, she had noticed that his eyes were cloudy since around birth and that he did not look at faces or objects.
The past medical history was negative except for a mild runny nose at 6 weeks of age. He was the first child and was born full term without complications.
He went home on time. By 10 days of age he had regained his birth weight and was doing well. Newborn and hearing screens were normal. He wasn’t taking any medications.
The family history revealed maternal asthma, a child cousin with cancer, and a maternal grandfather with cataracts as an older man. Some family members wear glasses as they age.
There are no other family members with cataracts, retinoblastoma, birth defects, mental retardation or learning problems.
The review of systems was normal including no tearing, or eye redness.
The pertinent physical exam showed a healthy appearing male with all growth parameters at 90% for age
Head was atraumatic, normocephalic with open anterior fontanelle and closed posterior fontanelle.
Eyes had cloudy-appearing lenses. The anterior chamber appeared normal. No red reflexes were seen. Sclera and palpebral conjunctiva were normal.
Skin and neurological examinations waere negative.
The differential diagnosis of bilateral cataracts and glaucoma were considered as was retinoblastoma.
He was referred to ophthalmology, who confirmed the diagnosis of bilateral congenital cataracts. He underwent bilateral lensectomies and vitrectomies. A genetics evaluation was negative also.
The patient’s clinical course showed that at 6 months of age, he needed bilateral strabismus surgery for esotropia. At 2 years of age, he needed contact lenses and glasses for severe visual correction but the ophthalmologist was happy with his progress to date.
His developmental milestones were appropriate for his age at that time, and he was receiving special education services to assist and monitor his progress.
Children should be screened for visual problems from birth onwards. Asking the parent whether they have any vision concerns may elicit the first clue to uncovering an abnormality.
From birth until 2 years infants and toddler should have the following eye evaluation:
- Examination of the eyelids, conjunctiva, sclera, cornea and iris, pupils, and eyelids.
- Corneal light reflexes can evaluate muscle balance, ocular motility, and acuity. The symmetry of the corneal light reflexes on the pupil when the eye is fixed and when the eyes are in motion are noted. The light reflex should be symmetrical at all times; if it is not, then a referral to ophthalmology should be made.
- Unilateral cover test – must be performed with the eyes fixated on an object. The first eye is then covered while the object continues to move; the movement of the uncovered eye should be symmetric and follow the object.
The test is then done on the second eye. If the child will not follow the object or tries to move the head to be able to see with the other eye, this may be a sign of a visual problem and a referral should be made.
- Red reflex testing is performed to look for opacities in the visual axis and in the back of the eye. The red reflexes should be viewer from 12-18 inches away and should be symmetrical. Dark or white spots, or any unilateral differences should be referred to ophthalmology.
As the children become older, examination of the retina by ophthalmoscope becomes easier as does vision testing using picture cards, tumbling E or HOTV letter screening. Vision testing is recommended to begin at age 3 years.
Cataracts are the most common cause of blindness in the developing world. In the developed world, bilateral congenital cataracts are the most common cause of treatable childhood blindness; they also account for 5-20% of childhood blindness worldwide. It usually has an idiopathic cause (~50%) in the developed world, but may be associated with various systemic diseases.
The differential diagnosis of congenital cataracts includes:
- Metabolic disorders
- Diabetes mellitus
- Fabrys disease
- Galactokinase deficiency
- Lysosomal disorders
- Mitochondrial respiratory chain disorders
- Organic acidurias
- Peroxisomal disorders
- Refsum disease
- Zellweger syndrome
- Chondrodysplasia puncta
- Craniofacial dysostosis – Apert syndrome, Crouzon syndrome
- Trisomy 13, 18, 21
- Turners’ syndrome
- Specific chromosomal abnormalities – chromosome 3, chromosome 17, translocations, deletions, and rings
- Systemic syndromes – e.g. Alport syndrome, Conradi syndrome, Lowe syndrome, Marfan syndrome
- Vitamin D, excess
- Retinopathy of prematurity
- Trauma – amniocentesis with penetration of globe
- Intrauterine infections
- Human Immunodeficiency Virus
- Ocular abnormalities
- Ectopic lentis
- Coloboma of the iris
- Coloboma of the lens
- Mittendorf dot
- Persistent hyperplastic primary vitreous
- Persistent pupillary membrane
- Retinal dysplasia
- Ocular diseases
- Congenital glaucoma
- Juvenile retinoschisis
- Norrie disease
- Retinal detachment
Unilateral congenital cataracts usually have an idiopathic cause and are rarely inherited.
Treatment depends on age of patient, cataract type, size and location. Treatment seeks to decrease visual loss and amblyopia.
Treatment may include lensectomy, vitrectomy, implantation of an artificial lens, and visual rehabilitation (including occlusion of the eye(s)). Complications can occur including infection, inflammation, and opacification of the visual axis; complications may need additional treatment and affect visual outcomes.
Overall outcome depends on many factors including age of patient, time of presentation, cataract type, size and location, preexisting ocular problems, and complications of treatment. Surgery is currently recommended at 6-12 weeks of age.
Questions for Further Discussion
1. What is the differential diagnosis of leukocoria?
2. What is the role of special education for a child with visual defects?
3. In what groups of children is photoscreening helpful?
To Learn More
To view pediatric review articles on this topic from the past year check PubMed.
Information prescriptions for patients can be found at MedlinePlus for this topic: Cataract.
To view current news articles on this topic check Google News.
To view images related to this topic check Google Images.
American Academy of Pediatrics Committee on Practice and Ambulatory Medicine, Section on Ophthalmology. Eye Examination and Vision Screening in Infants, Children and Young Adults.
Pediatrics. 1996:98;153-157. Available from the Internet at http://aappolicy.aappublications.org/cgi/reprint/pediatrics;98/1/153.pdf (rev. 7/1/1996, cited 10/16/2007).
Rudolph CD, et.al. Rudolph’s Pediatrics. 21st edit. McGraw-Hill, New York, NY. 2003:2388-89.
Zetterstrom C, Lundvall A, Kugelberg M. Cataracts in children.
J Cataract Refract Surg. 2005 Apr;31(4):824-40.
Long V, Chen S, Hatt S. Surgical interventions for bilateral congenital cataract. Cochrane Database Syst Rev. 2006 Jul 19;3:CD003171.
Available from the Internet at http://www.mrw.interscience.wiley.com/cochrane/clsysrev/articles/CD003171/frame.html.
World Health Organization. Magnitude and causes of visual impairment.
Available from the Internet at http://www.who.int/mediacentre/factsheets/fs282/en/ (rev. 11/2004, cited 10/19/2007).
ACGME Competencies Highlighted by Case
1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
2. Essential and accurate information about the patients’ is gathered.
3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
4. Patient management plans are developed and carried out.
5. Patients and their families are counseled and educated.
7. All medical and invasive procedures considered essential for the area of practice are competently performed.
8. Health care services aimed at preventing health problems or maintaining health are provided.
9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.
10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.
13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.
16. Learning of students and other health care professionals is facilitated.
25. Quality patient care and assisting patients in dealing with system complexities is advocated.
26. Partnering with health care managers and health care providers to assess, coordinate, and improve health care and how these activities can affect system performance are known.
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa Children’s Hospital
November 26, 2007