SR2287

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

Age at visit: 4 years

OD		OS
20/40 +1 sc*		20/30 sc*

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

Age at visit: 4 years (Visit 2)

OD		OS
20/25*		20/25*

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

Age at visit: 4 years (Visit 3)

OD		OS
20/25*		20/25*

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

Age at visit: 5 years

OD		OS
20/40 sc*		Light Perception*

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

Age at visit: 5 years (Visit 2)

OD		OS
20/50		No Light Perception

OD		OS
20/50		No Light Perception

Age at visit: 11 years

OD		OS
20/25 -1		No Light Perception

OD		OS
20/25 -1		No Light Perception

Age at visit: 12 years

OD		OS
20/50 -1		No Light Perception

OD		OS
20/50 -1		No Light Perception

Age at visit: 13 years

OD		OS
20/50 +2		No Light Perception

OD		OS
20/50 +2		No Light Perception

Age at visit: 14 years

OD		OS
20/30 +2		No Light Perception

OD		OS
20/30 +2		No Light Perception

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

Disease

Gene

Allele 1 variant(s)

Allele 2 variant(s)

Inheritance mode

Retinoblastoma

RB1

Cys489Tyr TGC>TAC

Case

Student Mode

Retinoblastoma (IIID2)

Male

Male

Hidden

SR2287

Student Mode

Retinoblastoma (IIID2)

Male

Male

Highlighted Images

Pedigree

Diagnosis & molecular findings

Case

SR2287

Student Mode

Retinoblastoma (IIID2)

Male

Male

Hidden

SR2287

Student Mode

Retinoblastoma (IIID2)

Male

Male

Highlighted Images

Pedigree Collapse

Diagnosis & molecular findings

Pedigree