Case
SR731
Student Mode
Fundus Albipunctatus (IA2fv)
Female
Female
Hidden
SR731
Student Mode
Fundus Albipunctatus (IA2fv)
Female
Female
History
This 15 year old female first noticed profound difficulty in dim light when she was 7 years old. If her parents' bedroom door was closed, she could not find her way out of their bedroom.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Fundus Albipunctatus | RLBP1 | Arg9Cys CGC>TGC | Arg9Cys CGC>TGC | AR |
Disease:
Gene:
Allele 1:
Arg9Cys CGC>TGC
Allele 2:
Arg9Cys CGC>TGC
Inheritance:
AR