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StoneRounds Disease Atlas SR2287

SR2287

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Retinoblastoma (IIID2)

Male

Male

SR2287

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Retinoblastoma (IIID2)

Male

Male

Highlighted Images

Age at visit: 4 years
OD OS
20/40 +1 sc*
20/30 sc*

Pedigree

Age at visit: 4 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 4 years (Visit 2)
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 4 years (Visit 3)
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 5 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 5 years (Visit 2)
Age at visit: 11 years
Age at visit: 12 years
Age at visit: 13 years
Age at visit: 14 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Retinoblastoma RB1 Cys489Tyr TGC>TAC   AD
Disease:
Retinoblastoma
Gene:
RB1
Allele 1:
Cys489Tyr TGC>TAC
Allele 2:
 
Inheritance:
AD
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