Case
SR50
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR50
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Visit at age: 19 years
Fundus Photography - Right - 20/30 +2
Exemplar
Fundus Photography - Left - 20/30 +2
Exemplar
Fundus Montage - Right - 20/30 +2
Exemplar
Fundus Montage - Left - 20/30 +2
Exemplar
Goldmann Visual Field - Right - 20/30 +2
Exemplar
Goldmann Visual Field - Left - 20/30 +2
Exemplar
Optical Coherence Tomography - Right - 20/30 +2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/30 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/30 +2
Exemplar
Infrared Fundus Photograph - Left - 20/30 +2
Exemplar
Visit at age: 20 years
Goldmann Visual Field - Right - 20/32 -2
Exemplar
Goldmann Visual Field - Left - 20/40 +2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RPGR | Gly52Arg G(GA)>A(GA) | XL |
Disease:
Gene:
Allele 1:
Gly52Arg G(GA)>A(GA)
Allele 2:
Inheritance:
XL