This child has congenital heterochromia, which is usually inherited as an autosomal dominant trait but may be seen in mosaicism, or rarely in chimerism. Heterochromia of the iris is relatively uncommon and may be congenital or acquired. Both pupils dilate equally in the dark and constrict equally in response to light. Extraocular movements intact in all directions. Left iris is blue-gray at the periphery and hazelbrown centrally near the pupil. Iris architecture appears normal, although the iris crypts are less visible in the darker brown area of the right eye on close examination. Right iris has dark brown pigmentation except for the area between the 6 and 8 o’clock position, which is bluegray and sharply demarcated. Cornea is clear anterior chamber is deep and appears quiet. Conjunctiva is white, with no corkscrew vessels. Ocular examination reveals normal lids and lashes, with no ptosis, bruising, or port-wine stains. Physical findings and growth parameters essentially within normal limits for age. PHYSICAL EXAMINATION Happy infant with stable vital signs. Results of newborn hearing screen normal, no hearing problems subsequently reported. No history of prenatal maternal infections or perinatal trauma. Prenatal and postnatal histories uneventful, developmental milestones appropriate. Otherwise healthy infant with normal stools and no chronic diarrhea. No family members, including an older brother, have similar eye discoloration. They think the color of the eyes may have darkened slightly but have not noticed an unequal appearance to the pupils or drooping of either upper eyelid. The parents are concerned that the eye anomaly may be associated with an underlying condition after reading about eye disorders online. HISTORY A 6-month-old boy with different colored eyes since birth.
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