SR24 | StoneRounds

JavaScript is disabled.

Without JavaScript enabled, this site will not function properly.
Please follow these instructions in order to enable JavaScript in your browser.

SR24

Retinoblastoma (IIID2)

Female

Female

SR24

Retinoblastoma (IIID2)

Female

Female

Highlighted Images

OD	OS
Age at visit: 4 months
CSM	UCSUM

Pedigree

Age at visit: 4 months

OD		OS
CSM		UCSUM

OD		OS
CSM		UCSUM

Age at visit: 4 months (Visit 2)

		OS
		-*

*Acuities for this visit are inferred from other visits in this case.

Age at visit: 8 months (Visit 3)

OD
Fixed and Focused*

*Acuities for this visit are inferred from other visits in this case.

Age at visit: 9 months (Visit 4)

OD
Fixed and Focused*

*Acuities for this visit are inferred from other visits in this case.

Age at visit: 10 months (Visit 5)

OD
Fixed and Focused*

*Acuities for this visit are inferred from other visits in this case.

Age at visit: 11 months (Visit 6)

OD
Fixed and Focused*

*Acuities for this visit are inferred from other visits in this case.

Age at visit: 19 months

OD
20/32 sc*

*Acuities for this visit are inferred from other visits in this case.

Age at visit: 4 years

OD
20/20 sc*

*Acuities for this visit are inferred from other visits in this case.

Age at visit: 9 years

OD
20/20

Diagnosis & molecular findings

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

Disease:

Gene:

Allele 1:

Cys489Tyr TGC>TAC

Allele 2:

Inheritance:

AD

Cite this case