Case
SR2603
Student Mode
Foveal Hypoplasia (IIIG)
Male
Male
Hidden
SR2603
Student Mode
Foveal Hypoplasia (IIIG)
Male
Male
Visit at age: 22 years
Fundus Photography - Right - 20/60
Exemplar
Fundus Photography - Left - 20/40
Exemplar
Goldmann Visual Field - Right - 20/60
Exemplar
Goldmann Visual Field - Left - 20/40
Exemplar
Optical Coherence Tomography - Right - 20/60
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/60
Exemplar
Infrared Fundus Photograph - Left - 20/40
Exemplar
Blue Autofluorescence - Right - 20/60
Exemplar
Blue Autofluorescence - Left - 20/40
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Foveal Hypoplasia | PAX6 | Pro76Leu CCG>CTG | AD |