Case
SR2154
Student Mode
AD Neovascular Inflammatory Vitreoretinopathy (IIIE3)
Male
Male
Hidden
SR2154
Student Mode
AD Neovascular Inflammatory Vitreoretinopathy (IIIE3)
Male
Male
Highlighted Images
| Age at visit: 24 years (Visit 2) | |
| OD | OS |
|---|---|
History
This 24 year old man had some vitreous cells noticed on routine examination at age 12. In his late teens he developed cystoid macular edema in both eyes. At age 21 he developed a vitreous hemorrhage in his left eye associated with neovascularization of the disc.
Pedigree
| Age at visit: 25 years (Visit 4) |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 25 years (Visit 5) |
| OD | |||
|---|---|---|---|
| Age at visit: 26 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 28 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 32 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 35 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 37 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Neovascular Inflammatory Vitreoretinopathy | CAPN5 | Arg243Leu CGC>CTC | AD |
Gene:
Allele 1:
Arg243Leu CGC>CTC
Allele 2:
Inheritance:
AD