Case
SR846
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR846
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
History
This 79 year old woman first had difficulty in dim light and some constriction of her visual field when she was 70 years old.
Pedigree
Jewish ethnicity
| Age at visit: 79 years |
| Age at visit: 81 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | MAK | Lys429 insAlu_353bp | Lys429 insAlu_353bp | AR |
Disease:
Gene:
Allele 1:
Lys429 insAlu_353bp
Allele 2:
Lys429 insAlu_353bp
Inheritance:
AR