Case
SR2925
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR2925
Student Mode
Best Disease (IIB)
Male
Male
Visit at age: 3 years
Optical Coherence Tomography - Right - 10/12.5 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/16 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 10/12.5 sc
Exemplar
Infrared Fundus Photograph - Left - 10/16 sc
Exemplar
Visit at age: 8 years
Fundus Photography - Right - 20/25 -1
Exemplar
Fundus Photography - Left - 20/25 -1
Exemplar
Fundus Montage - Right - 20/25 -1
Exemplar
Fundus Montage - Left - 20/25 -1
Exemplar
Optical Coherence Tomography - Right - 20/25 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -1
Exemplar
Infrared Fundus Photograph - Left - 20/25 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Gly34Gly GGC>GGT | Ile295Leu ATC>CTC | AR |
Disease:
Gene:
Allele 1:
Gly34Gly GGC>GGT
Allele 2:
Ile295Leu ATC>CTC
Inheritance:
AR