Case
SR2720
Student Mode
Enhanced S-Cone Syndrome (IA2fiv)
Female
Female
Hidden
SR2720
Student Mode
Enhanced S-Cone Syndrome (IA2fiv)
Female
Female
Visit at age: 12 years
Fundus Photography - Right - 20/32 -1
Exemplar
Fundus Photography - Left - 20/50 -2
Exemplar
Fundus Montage - Right - 20/32 -1
Exemplar
Fundus Montage - Left - 20/50 -2
Exemplar
Goldmann Visual Field - Right - 20/32 -1
Exemplar
Goldmann Visual Field - Left - 20/50 -2
Exemplar
Optical Coherence Tomography - Right - 20/32 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 -1
Exemplar
Infrared Fundus Photograph - Left - 20/50 -2
Exemplar
Blue Autofluorescence - Right - 20/32 -1
Exemplar
Blue Autofluorescence - Left - 20/50 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Enhanced S-Cone Syndrome | NR2E3 | IVS1-2 A>C | Thr161 del1cccA | AR |
Disease:
Gene:
Allele 1:
IVS1-2 A>C
Allele 2:
Thr161 del1cccA
Inheritance:
AR