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.
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
AD Retinitis Pigmentosa | RP1 | Asp730 del3gACCins2gTA | AD |