Case
SR590
Student Mode
Achromatopsia (IA2d)
Female
Female
Hidden
SR590
Student Mode
Achromatopsia (IA2d)
Female
Female
Highlighted Images
| Age at visit: 47 years | |
| OD | OS |
|---|---|
History
This 47 year old woman was noted to have nystagmus and reduced visual acuity (wouldn't follow a toy) when she was 12 weeks old. She was initially diagnosed with spasmus nutans because of head nodding. At age 3 the diagnosis was changed to ocular albinism. At age 11 her diagnosis was changed to cone degeneration.
Pedigree
| Age at visit: 12 years |
| OS | |||
|---|---|---|---|
| Age at visit: 13 years |
| Age at visit: 37 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 47 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Achromatopsia | CNGA3 | Arg427Cys CGC>TGC | Cys191Tyr TGT>TAT | AR |
Disease:
Gene:
Allele 1:
Arg427Cys CGC>TGC
Allele 2:
Cys191Tyr TGT>TAT
Inheritance:
AR