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Figure 1 | BMC Ophthalmology

Figure 1

From: Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)

Figure 1

Photographs of the 3-year-old patient with Kabuki syndrome. (A) The external photograph shows arched eyebrows, epicanthus, ptosis, prominent eyelashes, long palpebral fissures, eversion of the lateral portion of the lower eyelids in both eyes, and depressed nasal tip. (B) The fundus photograph of the right eye shows coloboma of the retina, choroid and disc. (C) The fundus photograph of the left eye shows coloboma of the retina and choroid and an elevated optic disc without central cupping. (D) Computed tomography of the orbit reveals microphthalmia of the right eye and an isodense retrobulbar bulging cystic mass in both eyes. The defect is likely to be related to the colobomatous defect presented in the fundus photograph. No orbital fractures or intraorbital haemorrhages were found.

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