Retrospective, single-center analysis of genetic diagnostics in retinoblastoma: mapping systematic genotype–phenotype associations to enable model-based risk prediction and identify causal mechanisms.

Retrospective, single-center analysis of genetic diagnostics in retinoblastoma: mapping systematic genotype–phenotype associations to enable model-based risk prediction and identify causal mechanisms. - Rb-G-P

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00041035

Enrollment

3768

Registered

2026-07-20

Start date

2026-09-01

Completion date

Unknown

Last updated

2026-08-03

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

C69.2

Interventions

Group 1: Non-interventional: observational study / epidemiological study (retrospective cohort/registry analysis) Structured, case-by-case capture of the variables required for the analysis from the e

the variables were documented during the observation period (see below) in the course of routine clinical care. The variables to be captured are specified in the case report form (CRF) Rb-G-P-CRF v2.2

data on diagnosis, medical history and clinical course

genetic diagnosis. Observation period: February 1986 to June 2026.

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Availability of documented clinical and/or molecular genetic data from the specialist clinic (collected since 1986); diagnosis of retinoblastoma or RB1 pathogenic variant carrier status; where applicable, relatives with collected data.

Exclusion criteria

Exclusion criteria: none

Design outcomes

Primary

Measure	Time frame
Association between genotype (type/functional classification of the RB1 variant; somatic/constitutional; origin: germline/de novo/somatic/mosaic) and phenotype (disease status, age at diagnosis, number and laterality of tumors)	—

Secondary

Measure	Time frame
Secondary outcomes: improved assessment of the effects of RB1 variants on disease manifestation (penetrance/expressivity); parent-of-origin effects on penetrance/expressivity (epigenetic status). Exploratory/longer-term aim: development of a probabilistic model (based on a directed acyclic graph, DAG) integrating pathogenicity, epigenetics, and (age-dependent) penetrance/expressivity.	—

Countries

Germany

Contacts

Public ContactDietmar Lohmann

Forschergruppe Ophthalmologische Onkologie und Genetik

dietmar.lohmann@uk-essen.de+49 201 723 4562

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Aug 10, 2026