Case
SR5092
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
Hidden
SR5092
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
History
This 60 year old woman first noticed difficulty reading the newspaper about 1 year ago. She also noticed worsening photophobia about that time.
Pedigree
| Age at visit: 60 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Retinitis Pigmentosa | PROM1 | Arg373Cys CGC>TGC | AD |