Case
SR538
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR538
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Visit at age: 71 years
Fundus Photography - Right - No Light Perception
Exemplar
Fundus Photography - Left - No Light Perception
Exemplar
Fundus Montage - Right - No Light Perception
Exemplar
Fundus Montage - Left - No Light Perception
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | TULP1 | IVS14-6 C>A | Arg311Gln CGG>CAG | AR |
Disease:
Gene:
Allele 1:
IVS14-6 C>A
Allele 2:
Arg311Gln CGG>CAG
Inheritance:
AR