Case
SR364
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR364
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Highlighted Images
| Age at visit: 26 years | OD | OS |
|---|---|
History
This 26 year old woman has had poor vision in dim light her entire life.
Pedigree
| Age at visit: 26 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | PDE6B | Gly137Arg GGG>AGG | Met714Leu ATG>TTG | AR |
Disease:
Gene:
Allele 1:
Gly137Arg GGG>AGG
Allele 2:
Met714Leu ATG>TTG
Inheritance:
AR