J Korean Ophthalmol Soc.  1992 Dec;33(12):1233-1237.

Chromosomal Translocation Occuring Congenital Coloboma in Both Eyes

Affiliations
  • 1Department of Ophthalmology, St. Mary's Hospital, Catholic University Medica] ColJege, Seoul, Korea.

Abstract

The congenital coloboma represents failure in closure of fetal fissure, which may involve iris, ciliary body, choroid, retina or optic nerve. It is classified into typical and atypical type. The authors have experienced a case of typical coloboma of the occuring on the iris, choroid, and optic disc of both eyes which have chromosomal abnormality, 46, XY, t(4, 13)(p;q), and the literatures relating to this disease were briefly reviewed.

Keyword

Chromosomal abnormality; Congenital coloboma; t(4, 13)(p;q)

MeSH Terms

Choroid
Chromosome Aberrations
Ciliary Body
Coloboma*
Iris
Optic Nerve
Retina
Translocation, Genetic*
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