Retinocytoma: Clinical and Genetic Characteristics in 16 Pediatric and Adult Cases
The presentation of retinocytoma is most often asymptomatic. Thus, diagnosis may be delayed to far later ages than expected with Rb. Retinocytoma may be associated with germline pathogenic variants of the <i>RB1</i> gene, and follow-up is recommended due to rare but possible malignant transformation.
Authors
- Isabelle Aerts (ORCID: https://orcid.org/0000-0002-5213-3353)
- Denis Malaise (ORCID: https://orcid.org/0000-0001-7454-819X)
- Nathalie Cassoux (ORCID: https://orcid.org/0000-0002-5535-9649)
- Alexandre Matet (ORCID: https://orcid.org/0000-0002-9721-777X)
- François Doz (ORCID: https://orcid.org/0000-0001-9286-4831)
- Marion Gauthier‐Villars
- Livia Lumbroso-Le Rouic
- Chloé Widehen
Institutions
- Université Paris Cité (FR)
- Institut Curie (FR)
Publication Details
- Journal
- Ocular Oncology and Pathology
- Published
- 2025-10-18
- DOI
- https://doi.org/10.1159/000548389
- Primary Topic
- Ocular Oncology and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00