Case
SR879
Student Mode
Occult Macular Dystrophy (IIE)
Male
Male
Hidden
SR879
Student Mode
Occult Macular Dystrophy (IIE)
Male
Male
Visit at age: 36 years
Fundus Photography - Right - 20/63 +2 sc
Exemplar
Fundus Photography - Left - 20/50 sc
Exemplar
Fundus Montage - Right - 20/63 +2 sc
Exemplar
Fundus Montage - Left - 20/50 sc
Exemplar
Goldmann Visual Field - Right - 20/63 +2 sc
Exemplar
Goldmann Visual Field - Left - 20/50 sc
Exemplar
Optical Coherence Tomography - Right - 20/63 +2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63 +2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/50 sc
Exemplar
Visit at age: 37 years
Goldmann Visual Field - Right - 20/50 +2 sc
Exemplar
Goldmann Visual Field - Left - 20/80 +1 sc
Exemplar
Visit at age: 37 years (Visit 2)
Optical Coherence Tomography - Right - 20/30 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 +1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/30 sc
Exemplar
Infrared Fundus Photograph - Left - 20/50 +1 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Occult Macular Dystrophy | RP1L1 | Arg45Trp CGG>TGG | AD |