Case
SR731
Student Mode
Fundus Albipunctatus (IA2fv)
Female
Female
Hidden
SR731
Student Mode
Fundus Albipunctatus (IA2fv)
Female
Female
Visit at age: 7 years
Fundus Photography - Right - 20/30 +2
Exemplar
Fundus Photography - Left - 20/30
Exemplar
Visit at age: 8 years
Goldmann Visual Field - Right - 20/20 -2
Exemplar
Goldmann Visual Field - Left - 20/25
Exemplar
Visit at age: 13 years
Goldmann Visual Field - Right - 20/25 -3
Exemplar
Goldmann Visual Field - Left - 20/25 -2
Exemplar
Visit at age: 15 years
Fundus Photography - Right - 20/25 -2
Exemplar
Fundus Photography - Left - 20/30 -2
Exemplar
Fundus Montage - Right - 20/25 -2
Exemplar
Fundus Montage - Left - 20/30 -2
Exemplar
Goldmann Visual Field - Right - 20/25 -2
Exemplar
Goldmann Visual Field - Left - 20/30 -2
Exemplar
Visit at age: 18 years
Goldmann Visual Field - Right - 20/20
Exemplar
Goldmann Visual Field - Left - 20/20
Exemplar
Case Level Images
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