Novel RB1 germline mutation in a healthy man.
Eugenia M Ramos-DávilaLucas Antonio Garza GarzaRocío Villafuerte-de la CruzDione Aguilar-Y-MendezHéctor J Morales-GarzaManuel Garza-LeónRaul Eduardo Ruiz-LozanoDavid Arturo Ancona-LezamaPublished in: Ophthalmic genetics (2022)
This report describes a rare case of a novel low-penetrance RB1 germline mutation. Long-term follow-up of the father will include periodic evaluation of the eyes and orbits, and surveillance for systemic sarcoma and secondary malignancies. Implications for unaffected individuals need to be further studied.