Case
SR3014
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Male
Male
Hidden
SR3014
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Male
Male
History
This 45 year old man has had difficulty seeing in dim light since he was 12 years old.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Retinitis Pigmentosa | NRL | Pro51Leu CCC>CTC | AD |