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Retinal detachment in an infant with the ring chromosome 13 syndrome
1Department of Pediatric Ophthalmology, 2nd Medical Faculty, Charles University, Prague, Czech Republic.
Insights
Retinal detachment can occur in infants with ring chromosome 13, mimicking retinoblastoma. This finding highlights the importance of considering retinal detachment in the differential diagnosis for such cases.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Ring chromosome 13 is a rare chromosomal abnormality associated with various congenital anomalies.
- Retinoblastoma, a common intraocular tumor in children, is linked to deletions in the 13q14 region.
Observation:
- A case report of an infant with multiple congenital anomalies and a ring chromosome 13 is presented.
- The infant developed leukocoria, an intraocular mass, and suspected retinoblastoma.
- Ocular examination revealed a detached retina, not a tumor, upon histopathological analysis.
Findings:
- Histopathology confirmed retinal detachment with reactive gliosis and neovascularization, ruling out retinoblastoma.
- This case suggests retinal detachment may be an underrecognized feature of ring chromosome 13 syndrome.
Implications:
- Retinal detachment should be considered in the differential diagnosis of intraocular masses in infants with ring chromosome 13.
- Further research into chromosomal breakpoints associated with ring 13 chromosome is needed to assess retinoblastoma risk accurately.
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 non-specific intraocular mass. The assessment of chromosomal breakpoints in children with this aberration would enable clinicians to determine the real risk of retinoblastoma.