Management and outcome of unilateral retinoblastoma.
BACKGROUND
Two-thirds of retinoblastoma cases are unilateral, with most presenting with an advanced stage of disease. Primary enucleation is usually the preferred treatment. Conservative therapy may save less involved eyes.


METHODS
We retrospectively reviewed the presentation, age at diagnosis, classification, genetic status, treatment, and long-term outcome of 130 patients with unilateral retinoblastoma (1988-2008).


RESULTS
The mean age at presentation was 26 months. Based on retinoblastoma gene (RB1) status in tumors, germ-line status was defined in 92% of patients; 13% had a germ-line mutation. The primary treatment of 106 patients was enucleation. Severe disease at presentation (International Intraocular Retinoblastoma Classification [IIRC] group E) was significantly (p < 0.001) associated with adverse histopathological risk factors. Of the 16 patients who underwent eye-conserving therapy, treatment was successful in 9 (IIRC group A, 1; B, 5; C, 3). Two patients with a pertinent family history were diagnosed early and were treated solely with focal therapy. Three patients retained vision of 6/18 or better in the treated eye (median follow-up, 33 months; range, 2-120 months). Seven patients (IIRC group: B, 2; C, 4; D, 1) eventually underwent enucleation. One patient died of metastases following delayed parental consent for enucleation and refusal of prophylactic chemotherapy for high-risk histopathologic features.


CONCLUSIONS
Chemotherapy/focal therapy can save selected eyes, but primary enucleation is preferred for advanced unilateral retinoblastoma. "Conservative" treatment is an option when there is good potential for useful vision without prolonged, costly therapy with potential side effects. Simple enucleation reduces the risk of masking high-risk pathology and promotes early return to normal life.
Mallipatna
Ashwin C
AC
Department of Ophthalmology and Visual Sciences, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Sutherland
Joanne E
JE
Gallie
Brenda L
BL
Chan
Helen
H
Héon
Elise
E
D000970:Antineoplastic Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D015353:Eye Enucleation; D007839:Functional Laterality; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D017075:Laser Coagulation; D019572:Retinal Neoplasms / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D012175:Retinoblastoma / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D016160:Retinoblastoma Protein / Q000235:genetics; D012189:Retrospective Studies; D016896:Treatment Outcome; D014792:Visual Acuity / Q000502:physiology
D000970:Antineoplastic Agents; D016160:Retinoblastoma Protein