SR2695 | StoneRounds

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SR2695

AR Stargardt Disease (IIA)

Male

Male

SR2695

AR Stargardt Disease (IIA)

Male

Male

Highlighted Images

OD	OS
Age at visit: 10 years
20/50 +1 sc	20/40 -2 sc

Pedigree

Age at visit: 5 years

OD		OS
20/25 +1 sc OCT Stack		20/25 +1 sc OCT Stack

OD		OS
20/25 +1 sc		20/25 +1 sc

Age at visit: 7 years

OD		OS
20/25 OCT Stack		20/40 +2 OCT Stack

OD		OS
20/25		20/40 +2

Age at visit: 8 years

OD		OS
20/30 sc		20/40 +2 sc

OD		OS
20/30 sc OCT Stack		20/40 +2 sc OCT Stack

OD		OS
20/30 sc		20/40 +2 sc

Age at visit: 9 years

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

OD		OS
20/40 sc OCT Stack		20/40 +1 sc OCT Stack

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

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

Age at visit: 10 years

OD		OS
20/50 +1 sc		20/40 -2 sc

OD		OS
20/50 +1 sc OCT Stack		20/40 -2 sc OCT Stack

OD		OS
20/50 +1 sc		20/40 -2 sc

OD		OS
20/50 +1 sc		20/40 -2 sc

Age at visit: 11 years

OD		OS
20/40 -1		20/40 -2

OD		OS
20/40 -1 OCT Stack		20/40 -2 OCT Stack

OD		OS
20/40 -1		20/40 -2

Age at visit: 13 years

OD		OS
20/200 +2		20/160 -2

OD		OS
20/200 +2 OCT Stack		20/160 -2 OCT Stack

OD		OS
20/200 +2		20/160 -2

OD		OS
20/200 +2		20/160 -2

Age at visit: 14 years

OD		OS
10/100 -1 OCT Stack		10/100 +2 OCT Stack

OD		OS
10/100 -1		10/100 +2

OD		OS
10/100 -1		10/100 +2

Age at visit: 15 years

OD		OS
10/125 +1		10/125 -1

OD		OS
10/125 +1 OCT Stack		10/125 -1 OCT Stack

OD		OS
10/125 +1		10/125 -1

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
AR Stargardt Disease	ABCA4	IVS21-2 A>G	Pro1380Leu CCG>CTG	AR

Disease:

AR Stargardt Disease

Gene:

Allele 1:

IVS21-2 A>G

Allele 2:

Pro1380Leu CCG>CTG

Inheritance:

AR

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