Case
SR642
Student Mode
Homocystinuria (IID3)
Male
Male
Hidden
SR642
Student Mode
Homocystinuria (IID3)
Male
Male
Visit at age: 3 years
Optical Coherence Tomography - Right - 20/160 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160 sc
Exemplar
Infrared Fundus Photograph - Left - 20/160 sc
Exemplar
Visit at age: 4 years
Fundus Photography - Right - 20/125 sc
Exemplar
Fundus Photography - Left - 20/125 sc
Exemplar
Visit at age: 6 years
Optical Coherence Tomography - Right - 20/100 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 +1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 sc
Exemplar
Infrared Fundus Photograph - Left - 20/125 +1 sc
Exemplar
Visit at age: 7 years
Goldmann Visual Field - Right - 20/125 -2 sc
Exemplar
Goldmann Visual Field - Left - 20/125 -2 sc
Exemplar
Optical Coherence Tomography - Right - 20/125 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/125 -2 sc
Exemplar
Visit at age: 8 years
Fundus Photography - Right - 20/160 sc
Exemplar
Fundus Photography - Left - 20/200 -2 sc
Exemplar
Goldmann Visual Field - Right - 20/160 sc
Exemplar
Goldmann Visual Field - Left - 20/200 -2 sc
Exemplar
Optical Coherence Tomography - Right - 20/160 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160 sc
Exemplar
Infrared Fundus Photograph - Left - 20/200 -2 sc
Exemplar
Visit at age: 9 years
Goldmann Visual Field - Right - 20/160 +1 sc
Exemplar
Goldmann Visual Field - Left - 20/160 +1 sc
Exemplar
Optical Coherence Tomography - Right - 20/160 +1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160 +1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/160 +1 sc
Exemplar
Visit at age: 10 years
Goldmann Visual Field - Right - 20/125 -1 sc
Exemplar
Goldmann Visual Field - Left - 20/125 -1 sc
Exemplar
Optical Coherence Tomography - Right - 20/125 -1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/125 -1 sc
Exemplar
Visit at age: 11 years
Goldmann Visual Field - Right - 20/125 +2 sc
Exemplar
Goldmann Visual Field - Left - 20/100 -1 sc
Exemplar
Optical Coherence Tomography - Right - 20/125 +2 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/100 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 +2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/100 -1 sc
Exemplar
Visit at age: 13 years
Fundus Photography - Right - 20/125 -2 sc
Exemplar
Fundus Photography - Left - 20/125 -1 sc
Exemplar
Goldmann Visual Field - Right - 20/125 -2 sc
Exemplar
Goldmann Visual Field - Left - 20/125 -1 sc
Exemplar
Optical Coherence Tomography - Right - 20/125 -2 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/125 -1 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/125 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/125 -1 sc
Exemplar
Visit at age: 14 years
Fundus Photography - Right - 20/125 +1 sc
Exemplar
Fundus Photography - Left - 20/125 +1 sc
Exemplar
Optical Coherence Tomography - Right - 20/125 +1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 +1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/125 +1 sc
Exemplar
Visit at age: 15 years
Goldmann Visual Field - Right - 20/125 +2 sc
Exemplar
Goldmann Visual Field - Left - 20/125 +1 sc
Exemplar
Optical Coherence Tomography - Right - 20/125 +2 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/125 +1 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/125 +2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/125 +1 sc
Exemplar
Visit at age: 16 years
Optical Coherence Tomography - Right - 20/160 +1 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/160 +1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/160 +1 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Homocystinuria | MTR | Leu212 del2cTT | Asn799Asp AAT>GAT | AR |
Disease:
Gene:
Allele 1:
Leu212 del2cTT
Allele 2:
Asn799Asp AAT>GAT
Inheritance:
AR