Abstract

Turner syndrome (TS) is caused by haploinsufficiency or structural anomaly of the X-chromosome in females. The chromosomal anomaly may affect all cells or some of them, as a form of mosaicism. The most common eye disorders detected in this syndrome include strabismus, ptosis, epicanthal folds, red–green color deficiency, nystagmus, keratoconus, anterior chamber dysgenesis, or bilateral eyelid edema related to lymphatic circulation disorders. Patients with TS may also experience the formation of drusen at the fundus of the eye, vascular lesions, or retinal detachment. We report the case of a girl with unilateral morning glory disc anomaly who had karyotype consistent with TS mosaicism.

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