Microphthalmos with colobomatous orbital cyst in trisomy 13.
The authors describe a case of trisomy 13 with microphthalmos and colobomatous cyst of the optic nerve and of the chorioretina with orbital extension, in a six-month-old female patient. The colobomatous cyst has been studied by means of computerized axial tomography and ultrasonography in order to follow its evolution. The orbital cyst has not increased in size.
Magni
R
R
Scientific Institute H. S. Raffaele, University of Milan, Department of Ophthalmology, Italy.
Pierro
L
L
Brancato
R
R
D002675:Child, Preschool; D002882:Chromosomes, Human, Pair 13; D003103:Coloboma / Q000000981:diagnostic imaging*; D003560:Cysts / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D008850:Microphthalmos / Q000000981:diagnostic imaging*; D009915:Orbit / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed; D014314:Trisomy; D014463:Ultrasonography