Age at visit: 25 years | |
OD | OS |
---|---|
This 25 year old woman has had reduced acuity since age 6 (20/60 OD & 20/100 OS). She had abnormal pigmentation noted in her retina at that time. She had postaxial polydactyl of the left hand and right foot.
Age at visit: 18 years |
OD | OS | ||
---|---|---|---|
Age at visit: 24 years |
OD | OS | ||
---|---|---|---|
Age at visit: 28 years |
OD | OS | ||
---|---|---|---|
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Bardet Biedl Syndrome | BBS10 | Asn222 ins6TGTTGG | Lys708 del2gttAA | AR |