SR2389 | StoneRounds

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SR2389

Batten Disease (IB3)

Male

Male

SR2389

Batten Disease (IB3)

Male

Male

Highlighted Images

OD	OS
Age at visit: 9 years
10/200 sc	10/200 sc

Pedigree

Age at visit: 7 years

OD		OS
20/100 -1 sc		20/100 -2 sc

OD		OS
20/100 -1 sc		20/100 -2 sc

OD		OS
20/100 -1 sc OCT Stack		20/100 -2 sc OCT Stack

OD		OS
20/100 -1 sc		20/100 -2 sc

OD		OS
20/100 -1 sc		20/100 -2 sc

Age at visit: 8 years

OD		OS
20/125 +1 sc		20/125 -1 sc

OD		OS
20/125 +1 sc		20/125 -1 sc

OD		OS
20/125 +1 sc OCT Stack		20/125 -1 sc OCT Stack

OD		OS
20/125 +1 sc		20/125 -1 sc

Age at visit: 8 years (Visit 2)

OD		OS
20/200 +2		20/200 +2

OD		OS
20/200 +2 OCT Stack		20/200 +2 OCT Stack

OD		OS
20/200 +2		20/200 +2

Age at visit: 9 years

OD		OS
10/200 sc		10/200 sc

OD		OS
10/200 sc OCT Stack		10/200 sc OCT Stack

OD		OS
10/200 sc		10/200 sc

Age at visit: 9 years (Visit 2)

OD		OS
10/200 -2 sc		10/200 sc

OD		OS
10/200 -2 sc OCT Stack		10/200 sc OCT Stack

OD		OS
10/200 -2 sc		10/200 sc

Age at visit: 10 years

OD		OS
10/300 sc		10/300 sc

OD		OS
10/300 sc OCT Stack		10/300 sc OCT Stack

OD		OS
10/300 sc		10/300 sc

Age at visit: 10 years (Visit 2)

OD		OS
10/300 sc		10/300 sc

OD		OS
10/300 sc		10/300 sc

OD		OS
10/300 sc		10/300 sc

OD		OS
10/300 sc OCT Stack		10/300 sc OCT Stack

OD		OS
10/300 sc		10/300 sc

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
Batten Disease	CLN3	Deletion Exons 9-10	IVS6-23del4tCTCA	AR

Disease:

Gene:

Allele 1:

Deletion Exons 9-10

Allele 2:

IVS6-23del4tCTCA

Inheritance:

AR

Cite this case