Case
SR2043
Student Mode
Macular Disease (II)
Male
Male
Hidden
SR2043
Student Mode
Macular Disease (II)
Male
Male
Visit at age: 38 years
Fundus Photography - Right - 20/40
Exemplar
Fundus Photography - Left - 20/20 -2
Exemplar
Fundus Montage - Right - 20/40
Exemplar
Fundus Montage - Left - 20/20 -2
Exemplar
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/20 -2
Exemplar
Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/20 -2
Exemplar
Visit at age: 40 years
Goldmann Visual Field - Right - 3/200 sc
Exemplar
Goldmann Visual Field - Left - 20/32 +2
Exemplar
Optical Coherence Tomography - Right - 3/200 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 3/200 sc
Exemplar
Infrared Fundus Photograph - Left - 20/32 +2
Exemplar
Visit at age: 43 years
Goldmann Visual Field - Right - 10/180
Exemplar
Goldmann Visual Field - Left - 20/40 -1
Exemplar
Optical Coherence Tomography - Right - 10/180
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/180
Exemplar
Infrared Fundus Photograph - Left - 20/40 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Macular Disease | WDR19 | His344Arg CAT>CGT | Ser485Ile AGT>ATT | AR |
Disease:
Gene:
Allele 1:
His344Arg CAT>CGT
Allele 2:
Ser485Ile AGT>ATT
Inheritance:
AR