SR1992

Age at visit: 46 years
OD	OS
20/20 -1	20/20 -1

Age at visit: 46 years

20/20 -1

History

This 46 year old man had his first retinal detachment at age 18, and now has scleral buckles in both eyes.

Pedigree

Age at visit: 46 years

OD		OS
20/20 -1		20/20 -1

OD		OS
20/20 -1		20/20 -1

Age at visit: 47 years

OD		OS
20/20		20/20

OD		OS
20/20		20/20

Age at visit: 49 years

OD		OS
20/20		20/20

Age at visit: 50 years

OD		OS
20/25 +1		20/20

Age at visit: 51 years

OD		OS
20/63		20/20 -1

OD		OS
20/63 OCT Stack		20/20 -1 OCT Stack

OD		OS
20/63		20/20 -1

Age at visit: 51 years (Visit 2)

OD		OS
20/300 OCT Stack		20/25 +2 OCT Stack

OD		OS
20/300		20/25 +2

Age at visit: 52 years

OD		OS
20/25 -1 OCT Stack		20/20 -1 OCT Stack

OD		OS
20/25 -1		20/20 -1

Age at visit: 54 years

OD		OS
20/25 -1		20/20 -1

OD		OS
20/25 -1 OCT Stack		20/20 -1 OCT Stack

OD		OS
20/25 -1		20/20 -1

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
Stickler Syndrome	COL2A1	Gln39Stop CAG>TAG		AD

Disease

Gene

Allele 1 variant(s)

Allele 2 variant(s)

Inheritance mode

Stickler Syndrome

COL2A1

Gln39Stop CAG>TAG

Case

Student Mode

Stickler Syndrome (IIIE1)

Male

Male

Hidden

SR1992

Student Mode

Stickler Syndrome (IIIE1)

Male

Male

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

Case

SR1992

Student Mode

Stickler Syndrome (IIIE1)

Male

Male

Hidden

SR1992

Student Mode

Stickler Syndrome (IIIE1)

Male

Male

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree