Case
SR90
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR90
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Pedigree
| Age at visit: 52 years |
| Age at visit: 55 years |
| Age at visit: 56 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 57 years |
| Age at visit: 59 years |
| Age at visit: 62 years |
| Age at visit: 64 years |
| Age at visit: 66 years |
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | USH2A | Arg4081 ins1cG | Arg4192His CGC>CAC | AR |
Disease:
Gene:
Allele 1:
Arg4081 ins1cG
Allele 2:
Arg4192His CGC>CAC
Inheritance:
AR