Case
SR120
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Male
Male
Hidden
SR120
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Male
Male
Pedigree
| Age at visit: 11 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 12 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 14 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 15 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 18 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 20 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 23 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Retinitis Pigmentosa | PRPF8 | Glu2322Stop GAG>TAG | AD |
Disease:
Gene:
Allele 1:
Glu2322Stop GAG>TAG
Allele 2:
Inheritance:
AD