Case
SR45
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR45
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Visit at age: 5 years
Goldmann Visual Field - Right - 20/32
Exemplar
Goldmann Visual Field - Left - 20/32
Exemplar
Visit at age: 8 years
Fundus Photography - Right - 20/25 -1
Exemplar
Fundus Photography - Left - 20/25 -1
Exemplar
Fundus Montage - Right - 20/25 -1
Exemplar
Fundus Montage - Left - 20/25 -1
Exemplar
Goldmann Visual Field - Right - 20/25 -1
Exemplar
Goldmann Visual Field - Left - 20/25 -1
Exemplar
Optical Coherence Tomography - Right - 20/25 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -1
Exemplar
Infrared Fundus Photograph - Left - 20/25 -1
Exemplar
Visit at age: 10 years
Goldmann Visual Field - Right - 20/32
Exemplar
Goldmann Visual Field - Left - 20/32 -1
Exemplar
Optical Coherence Tomography - Right - 20/32
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32
Exemplar
Infrared Fundus Photograph - Left - 20/32 -1
Exemplar
Visit at age: 14 years
Goldmann Visual Field - Right - 20/25
Exemplar
Goldmann Visual Field - Left - 20/25 -1
Exemplar
Optical Coherence Tomography - Right - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25
Exemplar
Infrared Fundus Photograph - Left - 20/25 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
Allele 1:
Gly939 del1gaaG