Case
SR1887
Student Mode
Occult Macular Dystrophy (IIE)
Male
Male
Hidden
SR1887
Student Mode
Occult Macular Dystrophy (IIE)
Male
Male
Visit at age: 12 years
Fundus Photography - Right - 20/100 +2
Exemplar
Fundus Photography - Left - 20/40 -1
Exemplar
Goldmann Visual Field - Right - 20/100 +2
Exemplar
Goldmann Visual Field - Left - 20/40 -1
Exemplar
Optical Coherence Tomography - Right - 20/100 +2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 +2
Exemplar
Infrared Fundus Photograph - Left - 20/40 -1
Exemplar
Blue Autofluorescence - Right - 20/100 +2
Exemplar
Blue Autofluorescence - Left - 20/40 -1
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 |