Case
SR449
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR449
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Highlighted Images
| Age at visit: 55 years | |
| OD | OS |
|---|---|
History
This 55 year old woman first came to attention at age 5 because of subnormal acuity of an unknown duration.
Pedigree
| Age at visit: 55 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | CRB1 | Leu479Pro CTG>CCG | Gly770Ser GGC>AGC | AR |
Disease:
Gene:
Allele 1:
Leu479Pro CTG>CCG
Allele 2:
Gly770Ser GGC>AGC
Inheritance:
AR