# Retinoblastoma unilateral

> Página oficial: https://raras.org/doenca/retinoblastoma-unilateral
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 357034 — https://www.orpha.net/en/disease/detail/357034
- **CID-10**: C69.2
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Retinoblastoma unilateral é um câncer ocular raro que afeta apenas um olho, sem histórico familiar. Geralmente surge de mutações somáticas nos genes RB1 e MYCN, não sendo herdado.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Not applicable

## Genes associados (2)

- **RB1** — Retinoblastoma-associated protein [Disease-causing somatic mutation(s) in]
  - Função: Tumor suppressor that is a key regulator of the G1/S transition of the cell cycle (PubMed:10499802). The hypophosphorylated form binds transcription regulators of the E2F family, preventing transcript
- **MYCN** — N-myc proto-oncogene protein [Candidate gene tested in]
  - Função: Positively regulates the transcription of MYCNOS in neuroblastoma cells

## Ensaios clínicos ativos (6)

- **NCT06725173** [RECRUITING]: Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis. — https://clinicaltrials.gov/study/NCT06725173
- **NCT05504291** [RECRUITING]: A Study to Give Treatment Inside the Eye to Treat Retinoblastoma — https://clinicaltrials.gov/study/NCT05504291
- **NCT03932786** [RECRUITING]: Studying Health Outcomes After Treatment in Patients With Retinoblastoma — https://clinicaltrials.gov/study/NCT03932786
- **NCT04959097** [RECRUITING]: RB Liquid Biopsy Biorepository — https://clinicaltrials.gov/study/NCT04959097
- **NCT03662776** [ENROLLING_BY_INVITATION]: Effect of Treatment Modality on Psychosocial Functioning of Survivors of Unilateral Retinoblastoma — https://clinicaltrials.gov/study/NCT03662776
- **NCT02870907** [ACTIVE_NOT_RECRUITING]: Adjuvant Treatment in Extensive Unilateral Retinoblastoma Primary Enucleated (RB SFCE 2009) — https://clinicaltrials.gov/study/NCT02870907
- **NCT03475121** [COMPLETED]: Treatment Protocol for Non-Metastatic Unilateral Retinoblastoma — https://clinicaltrials.gov/study/NCT03475121
- **NCT02097134** [COMPLETED]: Intra-arterial Melphalan in Treating Younger Patients With Unilateral Retinoblastoma — https://clinicaltrials.gov/study/NCT02097134
- **NCT00432445** [TERMINATED]: Proton Beam Radiation Therapy for Intraocular and Periocular Retinoblastoma — https://clinicaltrials.gov/study/NCT00432445
- **NCT00360750** [UNKNOWN]: Chemotherapy With or Without Radiation Therapy or Observation in Treating Young Patients With Advanced Retinoblastoma Who Have Undergone Surgery to Remove the Eye — https://clinicaltrials.gov/study/NCT00360750

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — Retinoblastoma unilateral. Disponível em: https://raras.org/doenca/retinoblastoma-unilateral
**Formato HTML**: https://raras.org/doenca/retinoblastoma-unilateral
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=357034