SR43

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

History

This 8 year old girl has had subnormal acuity and poor vision in dim light since at least age 2. She does not have nystagmus.

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

Age at visit: 16 years

OD		OS
5/250		5/500

OD		OS
5/250		5/500

OD		OS
5/250 OCT Stack		5/500 OCT Stack

OD		OS
5/250		5/500

Age at visit: 19 years

OD		OS
Hand Motion 1'		Hand Motion 1'

OD		OS
Hand Motion 1' OCT Stack		Hand Motion 1' OCT Stack

OD		OS
Hand Motion 1'		Hand Motion 1'

SECORD (IA2b)

Female

Female

SR43

SECORD (IA2b)

Female

Female

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

SR43

SECORD (IA2b)

Female

Female

SR43

SECORD (IA2b)

Female

Female

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree