The Case of the Blue/Brown-Eyed Girl

Sudip D. Thakar, BSc; Kimberly G. Yen, MD


May 24, 2016

Clinical Presentation

A 2-year-old girl was brought to clinic by her mother owing to concern that her eyes may not be developing appropriately. Her mother noticed unusual pigmentation of the child's eyes lasting for a year, but she believed it would improve as the child grew.

On further questioning, the mother voiced concern that it was sometimes difficult to get her child's attention if she wasn't directly in front of her. She would either have to talk loudly or stand within the child's direct vision. The mother stated that the child was unable to make two-word sentences; when questioned, she also stated that the child did not have a vocabulary of 200 words.

Developmentally, the child was able to climb stairs and made appropriate eye contact at home. The mother was not aware of any family history of eye or hearing problems.

Upon examination, it was noted that the child had a small crop of white hair.

Visual examination showed that she was able to fix and follow with each eye equally. The slit-lamp examination showed the irises to be flat and the pupils to be round and reactive, with no afferent pupillary defect. Extraocular movements and alignment were normal. Complete heterochromia iridis was present. The right iris was a brilliant blue, and the left iris was brown (Figure). No segmental heterochromia was present.

There was no significant refractive error. The funduscopic examination was normal, with sharp discs and no vascular changes.

Figure. Heterochromia iridis.


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