Case
SR1832
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR1832
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
History
This 59 year old man has had slightly subnormal acuity his entire life. In his mid-teens he first had difficulty following a golf ball in flight. In the past few years he has noticed that his vision in dim light is worse than his peers, but this was not so in childhood.
Pedigree
| Age at visit: 59 years |
| Age at visit: 61 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | CRB1 | Asp165 del9cagGATGGAATT | Gly850Val GGC>GTC | AR |
Disease:
Gene:
Allele 1:
Asp165 del9cagGATGGAATT
Allele 2:
Gly850Val GGC>GTC
Inheritance:
AR