Abstract
Purpose: To report the lethal course of malignant transformation of retinoma in an adult. Methods: Case report. A 40-year-old patient presented with retinoma in his right eye and retinoblastoma in his left eye. Enucleation was recommended but refused and the patient received whole eye radiotherapy elsewhere. Five years later he presented again, with temporal hemianopsia of the left eye secondary to chiasmatic invasion. Results: Diagnosis of retinoblastoma infiltration was confirmed by stereotactic biopsy of the chiasmatic lesion. Treatment with intravenous and intrathecal chemotherapy led to partial remission, and was followed by stereotactic irradiation of the chiasmatic mass and right optic nerve. The left eye was enucleated. Death occurred one year later due to cerebrospinal fluid metastases. Conclusion: Extraocular extension of retinoblastoma diagnosed in adulthood has never, to our knowledge, been reported. This case stresses the importance of lifelong retinoma monitoring and the necessity for radical treatment in the event of malignant transformation.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 155-158 |
| Number of pages | 4 |
| Journal | Ophthalmic Genetics |
| Volume | 33 |
| Issue number | 3 |
| DOIs | |
| State | Published - Sep 2012 |
Funding
the clinical findings. This diagnosis was supported by the identification of a K615X germline mutation within exon 19 of the RB1 gene in DNA extracted from peripheral lymphocytes, the presence of typical retinoma foci in the right eye (Figure 1a), and the association of multiple lipomas.3Staging according to the UICC-AJCC TNM staging was T2NXMX.4
Keywords
- Adult
- Malignant transformation
- Retinoblastoma
- Retinocytoma
- Retinoma
ASJC Scopus subject areas
- Genetics(clinical)
- Ophthalmology
- Pediatrics, Perinatology, and Child Health
