Retinal detachment in an infant with the ring chromosome 13 syndrome

Abstract

Purpose: To inform about retinal detachment in an infant with the ring chromosome 13 as a possible new feature of this syndrome. The finding is able to imitate retinoblastoma, which is closely connected to the deletion of 13q14. Methods: We report on a girl with many congenital anomalies including hypoplasia of both optic discs and chorioretinal coloboma of the right eye. Chromosomal analysis revealed karyotype 46 XX with a ring chromosome 13. The patient was examined again at 15 months of age, where leukocoria was disclosed in the left eye, emerging from a retrolental greyish-white mass. Even though neither sonography nor CT showed a typical picture for retinoblastoma, this tumor could not be ruled out. Enucleation of the left eye was performed. The globe was then investigated histopathologically. Results: No tumor was found in the removed eye. Microscopic examination showed a detached retina with reactive gliosis and neovascularisation. Conclusions: The possibility of retinal detachment should be included into differential diagnoses in infants with ring 13 chromosome in cases with a nonspecific intraocular mass. The assessment of chromosomal breakpoints in children with this aberration would enable clinicians to determine the real risk of retinoblastoma.