Case
SR751
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR751
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
History
This 18 year old man has been moderately myopic since childhood. More recently he feels his visual field has been narrowing. He denies poor vision in dim light and reports that he can skateboard at night without difficulty. [Night blindness history is notoriously inaccurate].
Pedigree
| Age at visit: 18 years |
| Age at visit: 19 years |
| Age at visit: 20 years |
| Age at visit: 21 years |
| Age at visit: 22 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | FAM161A | Arg437Stop AGA>TGA | Arg523Stop CGA>TGA | AR |
Disease:
Gene:
Allele 1:
Arg437Stop AGA>TGA
Allele 2:
Arg523Stop CGA>TGA
Inheritance:
AR