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Book

Eyelid Coloboma

In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
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Book

Eyelid Coloboma

Venkata M. Kanukollu et al.
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Excerpt

Columba is derived from the Greek word koloboma ("curtailed" or mutilated) and describes a hole or gap in ocular tissue present at birth. The abnormality usually results from incomplete development of the eye in embryonic development. An eyelid coloboma is a congenital full-thickness defect of the eyelid margin; structures that may be affected are the eyelid, iris, lens, ciliary body, choroid, retina, or optic nerve.

Congenital eyelid coloboma can be unilateral or bilateral, involving 1 or all 4 lids. The defect can range from a minor marginal notch to a complete full-thickness absence of the entire eyelid margin, affecting approximately one-third to half of the eyelid. Usually, the upper eyelid is primarily affected, and the most common site of involvement occurs at the junction between the medial and middle thirds of the upper eyelid. Eyelid coloboma is an incomplete form of cryptophthalmos, a congenital condition characterized by eyelid abnormalities due to a failure in differentiation.

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Conflict of interest statement

Disclosure: Venkata Kanukollu declares no relevant financial relationships with ineligible companies.

Disclosure: Kyle Blair declares no relevant financial relationships with ineligible companies.

Disclosure: Syed Shoeb Ahmad declares no relevant financial relationships with ineligible companies.

References

    1. Nouby G. Congenital upper eyelid coloboma and cryptophthalmos. Ophthalmic Plast Reconstr Surg. 2002 Sep;18(5):373-7. - PubMed
    1. Slavotinek AM, Tifft CJ. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet. 2002 Sep;39(9):623-33. - PMC - PubMed
    1. Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet. 2011 Jun;48(6):375-82. - PMC - PubMed
    1. Schmitzer S, Burcel M, Dăscălescu D, Popteanu IC. Goldenhar Syndrome - ophthalmologist's perspective. Rom J Ophthalmol. 2018 Apr-Jun;62(2):96-104. - PMC - PubMed
    1. Trainor PA, Andrews BT. Facial dysostoses: Etiology, pathogenesis and management. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):283-94. - PMC - PubMed

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