[Congenital cystic eye].
Report on 2 cases of congenital cystic eye. In the first case the unilateral defect was the only malformation, without any chromosomal aberration. The second patient presented with a congenital cystic eye, on the right and a severe microphthalmos of the left eye, as well as several other malformations. Genetic investigations revealed a gross defect of a chromosome 13 (13q- deletion syndrome; so-called Orbeli syndrome).
Küchle
H J
HJ
Normann
J
J
Lübbering
I
I
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D003560:Cysts / Q000235:genetics*; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008850:Microphthalmos / Q000235:genetics; D013577:Syndrome; D014057:Tomography, X-Ray Computed
Ein Beitrag zum kongenitalen Zystenauge.