Case
SR1070
Student Mode
Foveal Hypoplasia (IIIG)
Female
Female
Hidden
SR1070
Student Mode
Foveal Hypoplasia (IIIG)
Female
Female
Visit at age: 31 years
Fundus Photography - Right - 20/80
Exemplar
Fundus Photography - Left - 20/100
Exemplar
Fundus Montage - Right - 20/80
Exemplar
Fundus Montage - Left - 20/100
Exemplar
Goldmann Visual Field - Right - 20/80
Exemplar
Goldmann Visual Field - Left - 20/100
Exemplar
Visit at age: 41 years
Optical Coherence Tomography - Right - 20/80
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/100
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/80
Exemplar
Infrared Fundus Photograph - Left - 20/100
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Foveal Hypoplasia | PAX6 | Val126Asp GTT>GAT | AD |