Case
SR1061
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR1061
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Visit at age: 18 years
Goldmann Visual Field - Right - 20/25 -2 sc
Exemplar
Visit at age: 42 years
Fundus Photography - Right - 20/40 -2
Exemplar
Fundus Photography - Left - 20/50 +1
Exemplar
Fundus Montage - Right - 20/40 -2
Exemplar
Fundus Montage - Left - 20/50 +1
Exemplar
Visit at age: 43 years
Fundus Photography - Right - 20/40 -2
Exemplar
Fundus Photography - Left - 20/50 +1
Exemplar
Fundus Montage - Right - 20/40 -2
Exemplar
Fundus Montage - Left - 20/50 +1
Exemplar
Goldmann Visual Field - Right - 20/40 -2
Exemplar
Goldmann Visual Field - Left - 20/50 +1
Exemplar
Optical Coherence Tomography - Right - 20/40 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -2
Exemplar
Infrared Fundus Photograph - Left - 20/50 +1
Exemplar
Visit at age: 45 years
Goldmann Visual Field - Right - 20/100
Exemplar
Goldmann Visual Field - Left - 20/125
Exemplar
Optical Coherence Tomography - Right - 20/100
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100
Exemplar
Infrared Fundus Photograph - Left - 20/125
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | EYS | IVS35-1G>C | Deletion Exon 32 | AR |
Disease:
Gene:
Allele 1:
IVS35-1G>C
Allele 2:
Deletion Exon 32
Inheritance:
AR