Case
SR3010
Student Mode
AD Choroideremia (IIIA1b)
Female
Female
Hidden
SR3010
Student Mode
AD Choroideremia (IIIA1b)
Female
Female
History
This 63 year old woman was asymptomatic when her optometrist found that he could not correct her to better than 20/40 acuity in her better eye.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Choroideremia | RPE65 | Asp477Gly GAT>GGT | AD |