Retinoblastoma
Che cos’è il retinoblastoma?
Il retinoblastoma è un tumore oculare maligno che si sviluppa dalle cellule della retina. E’ un tumore raro con un’ incidenza di circa 1: 20.000 nati, ma è il principale tumore infantile intraoculare della retina. La diagnosi di retinoblastoma viene effettuata intorno ai 12 mesi di età, raramente >5 anni. Circa il 60% dei retinoblastoma sono sporadici (e unilaterali) mentre il 40% è familiare (e bilaterale). Nel 1971 Knudson scoprì che il retinoblastoma è causato da due eventi mutazionali:
- una mutazione ereditata per via germinale;
- la seconda avviene nelle cellule somatiche.
Nella forma non ereditaria entrambe le mutazioni avvengono nelle cellule somatiche.
Il tumore si definisce:
- endofitico se la massa tumorale si accresce verso l’interno della cavità oculare;
- esofitico se si estende verso la porzione esterna della retina.
Sintomi
I sintomi principali sono:
- una massa bianca nel campo pupillare (leucocoria)
- strabismo
- glaucoma
- dilatazione della pupilla
- nistagmo
Diagnosi
L’iter diagnostico prevede:
- esame oculare con fundus oculi
- ecografia oculare
- Tc e/o RMN (Risonanza Magnetica Nucleare)
Terapia
La terapia è efficace in oltre il 90% dei casi senza metastasi e consiste in:
- chemioterapia (chemioriduzione) seguita da radioterapia, crioterapia o laser
- radioterapia o enucleazione.
Nei tumori bilaterali. si procede all’escissione dell’occhio in cui il tumore appare più sviluppato, mentre nell’altro occhio la malformazione viene curato con fotocoagulazione laser.
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