Case
SR2641
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR2641
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Visit at age: 60 years
Fundus Photography - Right - No Light Perception
Exemplar
Fundus Photography - Left - 20/63 +2
Exemplar
Fundus Montage - Left - 20/63 +2
Exemplar
Goldmann Visual Field - Right - No Light Perception
Exemplar
Goldmann Visual Field - Left - 20/63 +2
Exemplar
Optical Coherence Tomography - Left - 20/63 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Left - 20/63 +2
Exemplar
B-Scan Ultrasonography - Right - No Light Perception
Exemplar
Blue Autofluorescence - Left - 20/63 +2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | PDE6B | Pro496 del1gggC | His557Tyr CAC>TAC | AR |
Disease:
Gene:
Allele 1:
Pro496 del1gggC
Allele 2:
His557Tyr CAC>TAC
Inheritance:
AR