Photo Quiz: Making the Rounds: Round 1

January 1, 2007

This toddler has had abnormal-looking eyes since birth.What is this condition--and how common is it? Might this ocular malformation be associated with any other findings?

Case 1:

This toddler has had abnormal-looking eyes since birth.

What is this condition--and how common is it? Might this ocular malformation be associated with any other findings?

Case 1: These are uveal colobomas. The term "coloboma" describes a wide variety of ocular and periocular malformations that resemble a notch, gap, keyhole, or fissure in any ocular structure--whether acquired or congenital.1 A uveal coloboma is caused by the incomplete closure of the optic fissure during the fifth to seventh weeks of fetal life. The iris, ciliary body, retina, choroid, and/or optic nerve may be involved.

The reported prevalence of coloboma varies among different populations. In the United States, it occurs in 2.6/10,000 live births.2 Although relatively rare in the general population, coloboma contributes significantly to blindness: between 2% and 10% of children have colobomatous malformations. Colobomas are largely genetic, but some environmental causes have been cited--specifically deficiencies in vitamin A and selenium.3

Colobomas can affect one or both eyes; the involvement can be continuous or discontinuous. If both eyes are affected, the level of involvement can be asymmetric. Vision in the colobomatous eye can range from normal to complete light blindness. The visual prognosis for patients with a coloboma depends primarily on whether the optic nerve, macula, and papulomacular bundle are involved.4

Most cases of isolated coloboma are sporadic and--as in this patient's case--there is no recognizable pattern or family history of malformation. However, numerous genetic syndromes or chromosomal aberrations have been identified and reported to be associated with coloboma. The most common associated syndrome (seen in 15% to 30% of those with coloboma) is CHARGE syndrome. This is a constellation of coloboma, heart defects, choanal atresia, retarded growth, genital anomalies, and ear anomalies and deafness. Most cases of CHARGE syndrome are sporadic, but familial cases and cases in affected concordant monozygotic twins have been reported. In 2004, mutations in the CHD7 gene were identified in 65% of cases.5

Refractive errors commonly develop in children with a coloboma. Affected children should therefore be referred initially to an ophthalmologist and subsequently followed up with appropriate vision screening. These children also need to be closely examined by their pediatrician for any possible associated syndromes.

Case 2:

Are these lesions likely to cause problems--and what should be done to treat them?

Case 2: Hemangiomas are extremely common birthmarks; they occur in more than 5% of infants by age 1 year.1 Hemangiomas are an overgrowth or tumor of blood vessels in the skin. They are generally benign, but complications may develop if the lesion is very large or occurs in certain anatomic areas that may affect organ function (eg, the eye or trachea). Their appearance on the skin reflects the density and depth of blood vessel growth.

Hemangiomas can be categorized by appearance or morphology (Table). Most hemangiomas are not present at birth but rapidly develop in the first few weeks to months of life. Hemangiomas are more common in premature infants. Girls are affected 3 times more often than boys. Hemangiomas are usually localized and occur on the face (Figure A).2 The trunk is may be affected (Figure B).

Generally, management involves watching and waiting. Most hemangiomas involute by a child's 10th birthday. Unfortunately, some hemangiomas are more likely to require treatment, including those that involve:

•Significant bleeding, ulceration, or infection--especially around such areas as the lip, nose, and groin.

•Specific organs (eg, eye, ear, or trachea) where they disrupt function.

•Exuberant blood vessel growth, which creates a deformity of the surrounding tissue (see Figure A).

Active treatment options include:

Corticosteroids: These agents are injected at the lesion site or are given orally in high doses to stimulate involution or to slow rapid growth.

Pulsed dye laser therapy: Such treatment is usually used to improve the cosmetic appearance of superficial hemangiomas (especially port-wine stains).

Alpha interferon or cyclophosphamide: Either can be administered if corticosteroids are ineffective or if adverse effects preclude their use. Therapy with alpha interferon and cyclophosphamide is limited to life-threatening hemangiomas (such as hemangio-endotheliomas).3

Surgical removal: Excision is being done with increasing frequency, especially when the hemangioma is not likely to resolve spontaneously (ie, the non-involuting type) or when there is significant tissue distortion with likelihood of deformity.4




Hornby SJ, Adolph S, Gilbert CE, et al. Visual acuity in children with coloboma: clinical features and a new phenotypic classification system.




Porges Y, Gershoni-Baruch R, Leibu R, et al. Hereditary microphthalmia with colobomatous cyst.

Am J Ophthalmol.



Hornby SJ, Gilbert CE, Rahi JK, et al. Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma.

Ophthalmic Epidemiol.



Onwochei BC, Simon JW, Bateman JB, et al. Ocular colobomata.

Surv Ophthalmol.



Vissers LE, van Ravenswaaij CM, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Nat Genet.


REFERENCES:1. Astner S, Anderson RR. Treating vascular lesions. Dermatol Ther. 2005;18: 267-281.
2. Haggstrom AN, Drolet BA, Baselga E, et al. Prospective study of infantile hemangiomas: clinical characteristics predicting complications and treatment. Pediatrics. 2006;118:882-887.
3. Walsh R, Harrington J, Beneck D, Ozkaynak F. Congenital infantile hepatic hemangioendothelioma type II treated with orthotopic liver transplant. J Pediatr Hematol Oncol. 2004;26:121-123.
4. Weinstein JM, Chamlin SL. Quality of life in vascular anomalies. Lymphat Res Biol. 2005;3:256-259.