Case
SR2425
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR2425
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Visit at age: 13 years
Fundus Photography - Right - 20/20 -1
Exemplar
Fundus Photography - Left - 20/25 +1
Exemplar
Fundus Montage - Right - 20/20 -1
Exemplar
Fundus Montage - Left - 20/25 +1
Exemplar
Goldmann Visual Field - Right - 20/20 -1
Exemplar
Goldmann Visual Field - Left - 20/25 +1
Exemplar
Optical Coherence Tomography - Right - 20/20 -1
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 - 20/20 -1
Exemplar
Infrared Fundus Photograph - Left - 20/25 +1
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Blue Autofluorescence - Right - 20/20 -1
Exemplar
Blue Autofluorescence - Left - 20/25 +1
Exemplar
Visit at age: 14 years
Optical Coherence Tomography - Right - 20/20 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -2
Exemplar
Infrared Fundus Photograph - Left - 20/20 -2
Exemplar
Visit at age: 15 years
Goldmann Visual Field - Right - 20/32 +2
Exemplar
Goldmann Visual Field - Left - 20/32
Exemplar
Optical Coherence Tomography - Right - 20/32 +2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 +2
Exemplar
Infrared Fundus Photograph - Left - 20/32
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RPGR | Asn62Lys AAC>AAA | XL |