Bilateral optic nerve abnormalities associated with a 4-10 chromosomal translocation.
A neonate with ocular abnormalities and a chromosomal aberration is described. The patient demonstrates a typical choroidal coloboma involving the iris ciliary body and choroid of the right eye, bilateral optic pits-coloboma and a karyotype with a 4-10 chromosomal translocation. Although a random occurrence of the ocular phenomena and the chromosomal aberration cannot be ruled out, it is appealing to speculate about the possible association of the ocular colobomata and the chromosomal translocation harbored by this patient.
D002829:Choroid / Q000002:abnormalities; D002869:Chromosome Aberrations; D002905:Chromosomes, Human, 4-5; D002906:Chromosomes, Human, 6-12 and X; D002924:Ciliary Body / Q000002:abnormalities; D003103:Coloboma; D007839:Functional Laterality; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities*; D014178:Translocation, Genetic