Case
SR2923
Student Mode
Fundus Albipunctatus (IA2fv)
Male
Male
Hidden
SR2923
Student Mode
Fundus Albipunctatus (IA2fv)
Male
Male
Highlighted Images
| Age at visit: 40 years (Visit 2) | |
| OD | OS |
|---|---|
History
This 40 year old man has had poor vision in dim light since childhood. In the past 5 years his central vision has also fallen somewhat.
Pedigree
| Age at visit: 40 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 40 years (Visit 2) |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Fundus Albipunctatus | RDH5 | Arg280His CGC>CAC | Arg280His CGC>CAC | AR |
Disease:
Gene:
Allele 1:
Arg280His CGC>CAC
Allele 2:
Arg280His CGC>CAC
Inheritance:
AR