Case
SR9716
Student Mode
AD Familial Exudative Vitreoretinopathy (IIIE2b)
Female
Female
Hidden
SR9716
Student Mode
AD Familial Exudative Vitreoretinopathy (IIIE2b)
Female
Female
History
This 32 year old woman has had subnormal acuity (right eye worse than left eye) since very early childhood.
Pedigree
| Age at visit: 18 years |
|
| Age at visit: 51 years |
| OD | |||
|---|---|---|---|
| Age at visit: 65 years |
| Age at visit: 73 years |
| Age at visit: 74 years |
| Age at visit: 74 years (Visit 2) |
| OD | |||
|---|---|---|---|
| Age at visit: 75 years |
| Age at visit: 76 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Familial Exudative Vitreoretinopathy | TSPAN12 | Arg50Trp AG(G)>TG(G) | AD |
Gene:
Allele 1:
Arg50Trp AG(G)>TG(G)
Allele 2:
Inheritance:
AD