Case
SR172
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR172
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
History
This 19 year old woman first had difficulty seeing the blackboard at age 7.
Pedigree
| Age at visit: 8 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 13 years |
| Age at visit: 15 years |
| Age at visit: 17 years |
| Age at visit: 19 years |
| Age at visit: 21 years |
| Age at visit: 23 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | IMPG2 | Val553 del1gT | Val553 del1gT | AR |
Disease:
Gene:
Allele 1:
Val553 del1gT
Allele 2:
Val553 del1gT
Inheritance:
AR