Ocular Manifestations of Chromosome 14 Terminal Deletion

Chung, Ida; Chawla, Radhika; FitzGerald, David E.
March 2006
Journal of Pediatric Ophthalmology & Strabismus;Mar/Apr2006, Vol. 43 Issue 2, p104
Academic Journal
A boy with chromosome 14 terminal (14q32.3) deletion presented with typical facial dysmorphism, mental retardation, and hypotonia. Ocular examination revealed esotropia, jerk nystagmus, microcornea, and retinal-choroidal colobomas. We report the first case of microcorneas and colobomas in association with chromosome 14 terminal deletion to help further define this clinical syndrome.


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