A review of syndromes associated with blue sclera, with inclusion of malformations of the head and neck

Publication date: Available online 31 May 2018
Source:Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Author(s): John K. Brooks
Blue sclera is attributed to a diversity of mechanisms, mostly arising in genetic syndromes and to lesser extents to nongenetic disorders and from medication intake. A literature search was conducted to establish a database of blue scleral associations. This article represents the most comprehensive assemblage of etiopathologies coincident with blue sclera, comprising 66 genetic syndromes, 8 disorders, and 4 pharmacologically-induced pigmentations. To increase the knowledge of the clinical significance of blue sclera, a summary of the systemic and oral maxillofacial comorbidities is provided. Recognition of the presence of blue sclera is important as it could prompt a timelier and more thorough diagnostic evaluation of possible systemic and dental malformations and may lead to improved clinical outcomes.



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