Case
SR1745
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR1745
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
History
This 47 year old woman first noticed seeing difficulty in dim light at age 25. Later she noticed constriction of her visual field as well.
Pedigree
| Age at visit: 47 years |
| Age at visit: 48 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | EYS | Cys2139Tyr TGT>TAT | Glu2703Stop GAG>TAG | AR |
Disease:
Gene:
Allele 1:
Cys2139Tyr TGT>TAT
Allele 2:
Glu2703Stop GAG>TAG
Inheritance:
AR