Case
SR2666
Student Mode
AD Choroideremia (IIIA1b)
Male
Male
Hidden
SR2666
Student Mode
AD Choroideremia (IIIA1b)
Male
Male
History
This 65 year old man first experienced nyctalopia and constriction of his visual fields in his 40's. There is a family history of retinitis pigmentosa in his father and a niece.
Pedigree
| Age at visit: 65 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Choroideremia | RPE65 | Asp477Gly GAT>GGT | AD |