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DOI: 10.1055/s-0035-1565266
A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18
Publication History
24 February 2015
01 April 2015
Publication Date:
14 October 2015 (online)
Abstract
Trisomy 18 (or Edwards syndrome) has an incidence of 1 in 6,000 to 8,000 live births, making it the second most common trisomy after trisomy 21. Ophthalmologic anomalies include epicanthal folds, hypertelorism, and hypoplastic supraorbital ridges, whereas corneal opacities, microcornea, congenital glaucoma, cataract, retinal depigmentation, retinal vascular tortuosity, colobomatous microphthalmia, and cyclopia are thought to be less common; iridolenticular adhesions have not been previously reported. Our patient was a female with confirmed trisomy 18 with ophthalmologic examination revealing corneal opacities and iridolenticular adhesions. Insofar as corneal opacities are a known entity in trisomy 18 and have been considered by some to be of clinical importance, iridolenticular adhesions may also be a noteworthy manifestation of the disease's anterior segment dysgenesis.
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References
- 1 Traboulsi EI. Genetic Diseases of the Eye. 2nd ed. New York, NY: Oxford University Press; 2012: xv , 923
- 2 Jones KL, Smith DW. Smith's Recognizable Patterns of Human Malformation. 6th ed. Philadelphia, PA: Elsevier Saunders; 2006: xviii , 954
- 3 Mansour AM, Bitar FF, Traboulsi EI , et al. Ocular pathology in congenital heart disease. Eye (Lond) 2005; 19 (1) 29-34
- 4 François J, Berger R, Saraux H. Société française d'ophtalmologie. Chromosomal aberrations in ophthalmology. Assen, The Netherlands: Van Gorcum; 1975: xvi , 504
- 5 Velzeboer CM, van der Harten JJ, Koole FD. Ocular pathology in trisomy 18. A histopathological report of three cases. Ophthalmic Paediatr Genet 1989; 10 (4) 263-269