Case
SR2134
Student Mode
Enhanced S-Cone Syndrome (IA2fiv)
Female
Female
Hidden
SR2134
Student Mode
Enhanced S-Cone Syndrome (IA2fiv)
Female
Female
Highlighted Images
| Age at visit: 29 years | OD | OS |
|---|---|
Pedigree
| Age at visit: 6 years |
| Age at visit: 8 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 9 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 12 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 15 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 16 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 18 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 20 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 29 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 30 years |
| Age at visit: 32 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Enhanced S-Cone Syndrome | NR2E3 | IVS1-2 A>C | IVS1-2 A>C | AR |
Disease:
Gene:
Allele 1:
IVS1-2 A>C
Allele 2:
IVS1-2 A>C
Inheritance:
AR