Case
SR575
Student Mode
XL Ocular Albinism (IIIF1)
Male
Male
Hidden
SR575
Student Mode
XL Ocular Albinism (IIIF1)
Male
Male
Highlighted Images
| Age at visit: 42 years | OD | OS |
|---|---|
History
This 42 year old man has reduced acuity OU since early childhood. He has nystagmus and 35 prism diopters of esotropia. He has brown hair.
Pedigree
| Age at visit: 42 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Ocular Albinism | GPR143 | Arg5Cys CGC>TGC | XL |