SR729

Age at visit: 42 years
OD	OS
20/70 +1	20/60 +2

Age at visit: 42 years

History

This 42 year old woman was never correctable to 20/20. She sees much better at night than she does during the day and is quite uncomfortable in bright light. She is unable to identify any of the Ishihara color plates.

Pedigree

Age at visit: 41 years

OD		OS
20/60 -1		20/40 -2

OD		OS
20/60 -1		20/40 -2

Age at visit: 42 years

OD		OS
20/70 +1		20/60 +2

OD		OS
20/70 +1		20/60 +2

Age at visit: 44 years

OD		OS
20/60 -1		20/50 +1

Age at visit: 52 years

OD		OS
20/50 -2		20/60 +1

OD		OS
20/50 -2 OCT Stack		20/60 +1 OCT Stack

OD		OS
20/50 -2		20/60 +1

Age at visit: 55 years

OD		OS
20/50 OCT Stack		20/50 +1 OCT Stack

OD		OS
20/50		20/50 +1

Age at visit: 56 years

OD		OS
20/63 +2		20/63 -2

OD		OS
20/63 +2 OCT Stack		20/63 -2 OCT Stack

OD		OS
20/63 +2		20/63 -2

Age at visit: 58 years

OD		OS
20/100 -1		20/63 +2

OD		OS
20/100 -1 OCT Stack		20/63 +2 OCT Stack

OD		OS
20/100 -1		20/63 +2

Age at visit: 61 years

OD		OS
20/80 -1 OCT Stack		20/50 OCT Stack

OD		OS
20/80 -1		20/50

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
Achromatopsia	CNGB3	Thr383 del1aC	IVS13+1 G>A	AR

Disease

Gene

Allele 1 variant(s)

Allele 2 variant(s)

Inheritance mode

Achromatopsia

CNGB3

Thr383 del1aC

IVS13+1 G>A

Case

Student Mode

Achromatopsia (IA2d)

Female

Female

Hidden

SR729

Student Mode

Achromatopsia (IA2d)

Female

Female

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

Case

SR729

Student Mode

Achromatopsia (IA2d)

Female

Female

Hidden

SR729

Student Mode

Achromatopsia (IA2d)

Female

Female

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree