SR43 | StoneRounds

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SR43

SECORD (IA2b)

Female

Female

SR43

SECORD (IA2b)

Female

Female

Highlighted Images

OD	OS
Age at visit: 8 years
10/100 -2 sc	10/125 -1 sc

Pedigree

Age at visit: 21 months

OD		OS
20/150 +1		20/250

Age at visit: 2 years

OD		OS
20/125 sc		20/125 sc

OD		OS
20/125 sc		20/125 sc

Age at visit: 5 years

OD		OS
20/200 OCT Stack		20/200 OCT Stack

OD		OS
20/200		20/200

Age at visit: 6 years

OD		OS
10/100 -1 sc OCT Stack		10/125 -1 sc OCT Stack

OD		OS
10/100 -1 sc		10/125 -1 sc

Age at visit: 7 years

OD		OS
10/100 -1 sc		10/125 -1 sc

OD		OS
10/100 -1 sc OCT Stack		10/125 -1 sc OCT Stack

OD		OS
10/100 -1 sc		10/125 -1 sc

Age at visit: 8 years

OD		OS
10/100 -2 sc		10/125 -1 sc

OD		OS
10/100 -2 sc		10/125 -1 sc

OD		OS
10/100 -2 sc OCT Stack		10/125 -1 sc OCT Stack

OD		OS
10/100 -2 sc		10/125 -1 sc

Age at visit: 9 years

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

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

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

Age at visit: 11 years

OD		OS
10/100 -1		10/200

OD		OS
10/100 -1 OCT Stack		10/200 OCT Stack

OD		OS
10/100 -1		10/200

Age at visit: 14 years

OD		OS
5/160		5/200

OD		OS
5/160 OCT Stack		5/200 OCT Stack

OD		OS
5/160		5/200

OD		OS
5/160		5/200

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
SECORD	RDH12	Ala269 del5tgcGCCCT	Ala269 del5tgcGCCCT	AR

Disease:

Gene:

Allele 1:

Ala269 del5tgcGCCCT

Allele 2:

Ala269 del5tgcGCCCT

Inheritance:

AR

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