SR2254

Retinoblastoma (IIID2)

Male

Male

SR2254

Retinoblastoma (IIID2)

Male

Male

Highlighted Images

Age at visit: 2 weeks
OD OS

Pedigree

Age at visit: 2 weeks
Age at visit: 5 weeks (Visit 2)
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 2 months (Visit 3)
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 2 months (Visit 4)
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 6 months (Visit 5)
Age at visit: 8 years
Age at visit: 10 years
Age at visit: 11 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Retinoblastoma RB1 Arg556Stop CGA>TGA   AD
Disease:
Gene:
Allele 1:
Arg556Stop CGA>TGA
Allele 2:
 
Inheritance:
AD
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