Retinal detachment in an infant with the ring chromosome 13 syndrome.
OBJECTIVE
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 non-specific intraocular mass. The assessment of chromosomal breakpoints in children with this aberration would enable clinicians to determine the real risk of retinoblastoma.
Filous
A
A
Department of Pediatric Ophthalmology, 2nd Medical Faculty, Charles University, Prague, Czech Republic.
Rasková
D
D
Kodet
R
R
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002829:Choroid / Q000002:abnormalities / Q000473:pathology; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D003103:Coloboma / Q000235:genetics / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics / Q000473:pathology; D015353:Eye Enucleation; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009898:Optic Disk / Q000002:abnormalities / Q000473:pathology; D012160:Retina / Q000002:abnormalities / Q000473:pathology; D012163:Retinal Detachment / Q000235:genetics* / Q000473:pathology; D012303:Ring Chromosomes; D013577:Syndrome; D014057:Tomography, X-Ray Computed