Case
SR132
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR132
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Visit at age: 22 years
Fundus Photography - Right - 20/20 sc
Exemplar
Fundus Photography - Left - 20/30 sc
Exemplar
Fundus Montage - Right - 20/20 sc
Exemplar
Fundus Montage - Left - 20/30 sc
Exemplar
Goldmann Visual Field - Right - 20/20 sc
Exemplar
Goldmann Visual Field - Left - 20/30 sc
Exemplar
Optical Coherence Tomography - Right - 20/20 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/30 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 sc
Exemplar
Infrared Fundus Photograph - Left - 20/30 sc
Exemplar
Visit at age: 25 years
Goldmann Visual Field - Right - 20/20 sc
Exemplar
Goldmann Visual Field - Left - 20/32 sc
Exemplar
Visit at age: 26 years
Goldmann Visual Field - Right - 20/20 -1 sc
Exemplar
Goldmann Visual Field - Left - 20/32 -2 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | CLN3 | Deletion Exons 9-10 | Arg405Trp CGG>TGG | AR |
Disease:
Gene:
Allele 1:
Deletion Exons 9-10
Allele 2:
Arg405Trp CGG>TGG
Inheritance:
AR