Case
SR1344
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
Hidden
SR1344
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
History
This 72 year old woman first noticed some difficulty seeing in dim light when she was about 50 years old. Her brother was first symptomatic at age 30 and became completely blind at age 45.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Retinitis Pigmentosa | RP1 | Asp730 del3gACCins2gTA | AD |
Disease:
Gene:
Allele 1:
Asp730 del3gACCins2gTA
Allele 2:
Inheritance:
AD