Case
SR1344
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
Hidden
SR1344
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
Visit at age: 72 years
Fundus Photography - Right - 20/250
Exemplar
Fundus Photography - Left - 20/200
Exemplar
Goldmann Visual Field - Right - 20/250
Exemplar
Goldmann Visual Field - Left - 20/200
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Retinitis Pigmentosa | RP1 | Asp730 del3gACCins2gTA | AD |
Disease:
Gene:
Allele 1:
Asp730 del3gACCins2gTA
Allele 2:
Inheritance:
AD