Ocular Abnormality in a 7-Day-Old Child

Scott C. Cardone, MD; Kimberly Yen, MDSeries Editor: David K. Coats, MD


August 16, 2005

Clinical Presentation

A 7-day-old female presented for evaluation of an abnormally shaped left eye. Her parents were concerned that the eye appeared smaller and more hazy than her right one. This feature had been present since birth, with no associated photophobia or tearing. Pregnancy was unremarkable, with no history of infections, alcohol, tobacco, or drug abuse; the patient was delivered by cesarean section at 38 weeks. There was no history of consanguinity or ocular disease in the family.

On examination, the patient did not respond to light in either eye. The external and anterior segment exam of the right eye was normal, but the left eye was microphthalmic. The left cornea had a diffuse stromal haze with a horizontal diameter of 7 mm and vertical diameter of 5 mm. Intraocular pressure in both eyes was normal. The posterior exam of the right eye was significant for a complete absence of the retinal vasculature, nerve fiber layer, and optic nerve head. There appeared to be a small area of lucency in the fundus where the optic nerve is usually present (Figure 1). Since there was no view of the fundus of the left eye due to the corneal haze, an ultrasound was performed -- and it showed absence of the optic nerve. Cycloplegic refraction was -5.00 in the right eye. An MRI was also performed; it showed absence of both optic nerves and chiasm, along with microphthalmia on the right side. No other abnormalities were noted.

Fundus photo of the right eye showing complete absence of the optic disk, nerve fiber layer, and retinal vasculature.

What other abnormalities might be anticipated in this patient?

  1. Central nervous system (CNS) developmental abnormalities

  2. Nystagmus

  3. Polyductaly

  4. Coloboma

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