Case
SR71
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR71
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
History
This 7 year old girl first noticed poor vision in dim light when she was three years old. She has no difficulties with photophobia or color vision.
Pedigree
| Age at visit: 7 years |
| Age at visit: 7 years (Visit 2) |
| Age at visit: 9 years |
| Age at visit: 12 years |
| Age at visit: 14 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | PDE6B | Met1Thr ATG>ACG | Leu489Pro CTG>CCG | AR |
Disease:
Gene:
Allele 1:
Met1Thr ATG>ACG
Allele 2:
Leu489Pro CTG>CCG
Inheritance:
AR