SR1992

Stickler Syndrome (IIIE1)

Male

Male

SR1992

Stickler Syndrome (IIIE1)

Male

Male

Highlighted Images

Age at visit: 46 years
OD OS

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
Age at visit: 47 years
Age at visit: 49 years
Age at visit: 50 years
Age at visit: 51 years
Age at visit: 51 years (Visit 2)
Age at visit: 52 years
Age at visit: 54 years

Diagnosis & molecular findings

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