Case
SR49
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR49
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Visit at age: 24 years
Fundus Photography - Right - 20/25 +2
Exemplar
Fundus Photography - Left - 20/20 -2
Exemplar
Fundus Montage - Right - 20/25 +2
Exemplar
Fundus Montage - Left - 20/20 -2
Exemplar
Goldmann Visual Field - Right - 20/25 +2
Exemplar
Goldmann Visual Field - Left - 20/20 -2
Exemplar
Optical Coherence Tomography - Right - 20/25 +2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 +2
Exemplar
Infrared Fundus Photograph - Left - 20/20 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | USH2A | Cys759Phe TGC>TTC | Glu4304 del1gA | AR |
Disease:
Gene:
Allele 1:
Cys759Phe TGC>TTC
Allele 2:
Glu4304 del1gA
Inheritance:
AR