Buphthalmos

This baby boy was born to a healthy mother at term via normal spontaneous vaginal delivery. There was no family history of ocular abnormalities. Prenatal care was appropriate and unremarkable. Examination at birth revealed an enlarged, bluish-grey, slightly proptotic left eye. The cornea was extremely thin. Because of the opacity of the cornea, the pupil and iris were not seen. Tonometry of the eye revealed an intraocular pressure (IOP) of 15 mm Hg. The right eye and remaining physical findings were normal. A pediatric ophthalmologist who examined the newborn stated that an IOP of 15 mm Hg, although normal in a healthy child, is actually elevated given the very thin cornea.

Buphthalmos, meaning ox eye, is a rare ocular disorder characterized by eye enlargement that results from elevated IOP, which is often caused by primary congenital glaucoma—as was the case in this infant. The estimated frequency is thought to be 1 in 30,000 births.¹ Bilateral disease is more common.¹ Although an autosomal recessive trait has been reported, most cases are sporadic.² In addition to primary congenital glaucoma, other conditions associated with buphthalmos include trisomy 13,³ cerebral hepatorenal syndrome, Hurler syndrome, and neurofibromatosis type 1.⁴ Buphthalmos has been reported in an adult with Marfan syndrome⁵ and in the setting of persistent hyperplastic primary vitreous cataract.⁶

Buphthalmos is rarely present at birth presumably because even the abnormal drainage system can handle the minute amounts of aqueous humor that are produced in the infant eye during the first several months of life. Presence of the anomaly at birth indicates development early in gestation and more severe disease. Buphthalmos as a result of primary congenital glaucoma that develops within months after birth can be suspected by the classic triad of photophobia, tearing, and blepharospasm in bright light. Milder degrees of congenital glaucoma with slower onset of megalocornea may be surgically correctible.¹

This infant’s nursery stay was otherwise uneventful; he was discharged 3 days after birth. Two weeks later, an ultrasonogram of the left eye revealed absence of retinal structures, which were replaced by an intra-ocular cyst. The eye was completely nonfunctional. The infant was subsequently transferred to the pediatric ophthalmology service at a nearby children’s hospital, where he underwent enucleation.

REFERENCES:

1. Maassen J, Kwon YK. Primary congenital glaucoma (infantile glaucoma): 3 year-old female referred for evaluation of increased eye size, OS. EyeRounds.org. June 20, 2005. Available at: http://webeye.ophth.uiowa.edu/eyeforum/cases/42-Primary-Congenital-Glaucoma-Infantile-Glaucoma.htm. Accessed June 15, 2011.

2. McKusick VA. Mendelian Inheritance in Man. 12th ed. Vol 3. Baltimore: John Hopkins University Press; 1998:2265.

3. Bunting R, Leitch J. Buphthalmos in trisomy 13. Eye (Lond). 2005;19:487-488.

4. Roy FH. Ocular Syndromes and Systemic Diseases. 3rd ed. Philadelphia: Lippincott Williams & Wilkins; 2002:409-410.

5. Alme AM, Ingvoldstad DD, Hejkal TW, Margalit E. Adult onset buphthalmos in a patient with Marfan syndrome. J Glaucoma. 2008;17:567-568.

6. Khan AO. Buphthalmos in the setting of persistent hyperplastic primary vitreous cataract. Am J Ophthamol. 136:945-947.