BabyScreen+ newborn screening

Gene: RB1

Green List (high evidence)

Well established gene-disease association.

Rated as 'strong actionability' in paediatric patients by ClinGen.

Rb is a is life- and vision-threatening childhood cancer. Roughly 60% of affected individuals have a unilateral Rb (if one eye is affected), which is usually unifocal. Roughly 40% have bilateral Rb (if both eyes are affected). Some cases are trilateral where bilateral Rb (or rarely unilateral) and a pinealoblastoma co-occur.

Individuals with unilateral and bilateral Rb have a mean diagnosis ages of 24 and 15 months, respectively. The majority of Rb cases are detected before 5 years. If left untreated, Rb is fatal. With timely screening, diagnosis, referral, treatment, and follow-up delivered in a systematic way by a multidisciplinary team, 95 – 98% of children with Rb are cured, many with useful vision. Ocular survival rate is significantly lower when the presenting sign is leukocoria (8.5% over 5 years), rather than strabismus (17% over 5 years). Prognosis of trilateral Rb remains poor, with most patients dying from progressive disease within 2 years of diagnosis.

Clinical screening, including examination by an ophthalmologist with experience in Rb, begins at birth and is lifelong. Screening is initiated with examination by an ophthalmologist with experience in Rb beginning at birth and going to 5 years of age, by way of the red reflex test and the Hirschberg test. If these tests yield abnormal results, it is recommended that a pediatric anesthetist provide frequent examinations under anesthesia (EUAs). Early diagnosis, when tumors are small, maximizes survival and vision outcomes and reduces the need for chemotherapy, enucleation, and radiotherapy.

Created: 15 Dec 2022, 1:30 a.m. | Last Modified: 15 Dec 2022, 1:30 a.m.

Panel Version: 0.1479

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinoblastoma, MIM# 180200