Case
SR2307
Student Mode
Oculocutaneous Albinism (IIIF2a)
Male
Male
Hidden
SR2307
Student Mode
Oculocutaneous Albinism (IIIF2a)
Male
Male
History
This 20 year old male has had nystagmus and reduced acuity his entire life. He also has pale skin, almost white hair and pink irides.
Pedigree
Teaching Points
The clinical features favoring the diagnosis of TYR-associated oculocutaneous albinism include: nystagmus noted shortly after birth; reduced acuity; pale skin; almost white hair; pink irides and normally sighted parents.
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