Case
SR2307
Student Mode
Oculocutaneous Albinism (IIIF2a)
Male
Male
Hidden
SR2307
Student Mode
Oculocutaneous Albinism (IIIF2a)
Male
Male
Visit at age: 20 years
Fundus Photography - Right - 20/100 -1
Exemplar
Fundus Photography - Left - 20/80 -1
Exemplar
Optical Coherence Tomography - Right - 20/100 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 -1
Exemplar
Infrared Fundus Photograph - Left - 20/80 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Oculocutaneous Albinism | TYR | Arg278Stop CGA>TGA | Gly330 del1tctG | AR |
Disease:
Gene:
Allele 1:
Arg278Stop CGA>TGA
Allele 2:
Gly330 del1tctG
Inheritance:
AR