Case
SR575
Student Mode
XL Ocular Albinism (IIIF1)
Male
Male
Hidden
SR575
Student Mode
XL Ocular Albinism (IIIF1)
Male
Male
Visit at age: 42 years
Fundus Photography - Right - 20/160 -2 sc
Exemplar
Fundus Photography - Left - 20/100 -1
Exemplar
Fundus Montage - Right - 20/160 -2 sc
Exemplar
Fundus Montage - Left - 20/100 -1
Exemplar
Goldmann Visual Field - Right - 20/160 -2 sc
Exemplar
Goldmann Visual Field - Left - 20/100 -1
Exemplar
Optical Coherence Tomography - Right - 20/160 -2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/100 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Ocular Albinism | GPR143 | Arg5Cys CGC>TGC | XL |