Definition
A congenital defect, characterized by the absence of normal retina, retinal pigment epithelium, and choroid.
Etiology
Congenital ocular colobomata are caused by impaired embryogenesis. During embryogenesis, at around day 30 of gestation, the ventral surface of the optic vesicle and stalk invaginates leading to the formation of a double-layered optic cup. This invagination gives rise to the optic fissure, allowing blood vessels from the vascular mesoderm to enter the developing eye. Fusion of the edges of this fissure starts centrally around day 33 of gestation and proceeds anteriorly toward the rim of the optic cup and posteriorly along the optic stalk, with completion by 7 weeks. Failure of part of the fetal fissure to close results in the clinical entity recognized as coloboma which may affect one or more areas of the eye including the eyelid,...
References
Barnard S (2012) Bilateral chorioretinal coloboma discovered with ultra-wide field retinal imaging. J Optom 5(3):150–154
Gregory-Evans CY et al (2004) Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet 41(12):881–891
Olsen TW (1997) Visual acuity in children with colobomatous defects. Curr Opin Ophthalmol 8:63–67
Regillo C (ed) (2012) Fundamentals and principles of ophthalmology, basic and clinical science course. American Academy of Ophthalmology, San Francisco, pp 123, 141–142, 166
Schubert HD et al (2005) Structural organization of choroidal colobomas of young and adult patients and mechanism of retinal detachment. Trans Am Ophthalmol Soc 103:457–472
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Soudry, S., Mimouni, M. (2014). Ectasia, Retinal. In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35951-4_1009-1
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DOI: https://doi.org/10.1007/978-3-642-35951-4_1009-1
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