Case
SR411
Student Mode
Enhanced S-Cone Syndrome (IA2fiv)
Male
Male
Hidden
SR411
Student Mode
Enhanced S-Cone Syndrome (IA2fiv)
Male
Male
Visit at age: 3 years
Fundus Photography - Right - 20/50
Exemplar
Fundus Photography - Left - 20/32
Exemplar
Optical Coherence Tomography - Right - 20/50
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/32
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50
Exemplar
Infrared Fundus Photograph - Left - 20/32
Exemplar
Visit at age: 3 years (Visit 2)
Fundus Photography - Right - 20/32
Exemplar
Fundus Photography - Left - 20/32
Exemplar
Optical Coherence Tomography - Right - 20/32
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/32
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/32
Exemplar
Infrared Fundus Photograph - Left - 20/32
Exemplar
Visit at age: 4 years
Optical Coherence Tomography - Right - 10/12.5
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/12.5
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/12.5
Exemplar
Infrared Fundus Photograph - Left - 10/12.5
Exemplar
Visit at age: 7 years
Fundus Photography - Right - 20/40 +2 sc
Exemplar
Fundus Photography - Left - 20/40 +2 sc
Exemplar
Goldmann Visual Field - Right - 20/40 +2 sc
Exemplar
Goldmann Visual Field - Left - 20/40 +2 sc
Exemplar
Optical Coherence Tomography - Right - 20/40 +2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 +2 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 +2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/40 +2 sc
Exemplar
Swept-Source OCT - Right - 20/40 +2 sc
Exemplar
Swept-Source OCT - Left - 20/40 +2 sc
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 | IVS1-2 A>C | AR |
Disease:
Gene:
Allele 1:
IVS1-2 A>C
Allele 2:
IVS1-2 A>C
Inheritance:
AR