Case
SR562
Student Mode
Senior-Loken Syndrome (IB4)
Male
Male
Hidden
SR562
Student Mode
Senior-Loken Syndrome (IB4)
Male
Male
Highlighted Images
| Age at visit: 44 years | OD | OS |
|---|---|
History
This 44 year old man became photophobic about 6 years ago. He has been taking Imuran since his kidney transplant 23 years ago.
Pedigree
| Age at visit: 44 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 46 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 47 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 50 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Senior-Loken Syndrome | NPHP1 | Gly343Arg G(GG)>A(GG) | Deletion of Entire Gene | AR |
Disease:
Gene:
Allele 1:
Gly343Arg G(GG)>A(GG)
Allele 2:
Deletion of Entire Gene
Inheritance:
AR