Malformations of the Ocular Adnexae

Craig Lewis, Katrinka L. Heher, James A. Katowitz and Elias I. Traboulsi

in Genetic Diseases of the Eye, Second Edition

Second edition

Published on behalf of © Elias I. Traboulsi

Published in print January 2012 | ISBN: 9780195326147
Published online October 2012 | e-ISBN: 9780199975181 | DOI:

Series: Oxford Monographs on Medical Genetics

Malformations of the Ocular Adnexae

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This chapter begins with malformation of the orbit and central position, covering Orbital hypertelorism (an increased distance between the medial aspects of the two orbits), Telecanthus (an increased soft tissue distance between the inner canthi relative to inter-pupillary or interorbital distance), Dystopia canthorum (a specific feature of Waardenburg syndrome type 1 and referring to the combination of telecanthus with lateral displacement of the lacrimal puncta), and medial and lateral canthal dystopias. Major malformations of ocular structures are covered, including cryptophthalmos, microphthalmia and anophthalmia. Malformations of the eyelid are discussed, including Eyelid colobomas, Ankyloblepharon, Euryblepharon, Microblepharon, the four distinct types of epicanthus (epicanthus supraciliaris, epicanthus palpebralis, epicanthus tarsalis , and epicanthus inversus), blepharoptosis, ptosis and epicanthus inversus syndrome (BPES), Congenital entropion, Congenital ectropion, and congential eyelid retraction. The chapter also covers malformations of eyelashes, periocular skin and epibulbar surface, including Distichiasis, Epibulbar and orbital choristomas, and linear nevus sebaceous syndrome (also termed sebaceous nevus of Jadassohn, Schimmelpenning-Feuerstein-Mims syndrome, or organoid nevus syndrome). Finally the chapter deals with malformation of extraocular muscles: the disgenesis of the levator palpebrae superioris, and the agenensis of the superior oblique tendon, the inferior rectus muscle, the superior rectus muscle, the medial rectus muscle, and the lateral rectus muscle.

Chapter.  11488 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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