Case
SR2626
Student Mode
Heimler Syndrome (IB8a)
Female
Female
Hidden
SR2626
Student Mode
Heimler Syndrome (IB8a)
Female
Female
Visit at age: 3 years
Fundus Photography - Right - 5/16
Exemplar
Fundus Photography - Left - 5/16
Exemplar
Optical Coherence Tomography - Right - 5/16
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 5/16
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 5/16
Exemplar
Infrared Fundus Photograph - Left - 5/16
Exemplar
Visit at age: 4 years
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: 5 years
Optical Coherence Tomography - Right - 10/25 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/25 +2
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 10/25 +2
Exemplar
Infrared Fundus Photograph - Left - 10/25 +2
Exemplar
Visit at age: 6 years
Goldmann Visual Field - Right - 10/20
Exemplar
Optical Coherence Tomography - Right - 10/20
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/20
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/20
Exemplar
Infrared Fundus Photograph - Left - 10/20
Exemplar
Dental Photos - N/A
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Heimler Syndrome | PEX1 | Gly843Asp GGT>GAT | Gly1044Arg GGA>AGA | AR |
Disease:
Gene:
Allele 1:
Gly843Asp GGT>GAT
Allele 2:
Gly1044Arg GGA>AGA
Inheritance:
AR