Case
SR218
Student Mode
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
Hidden
SR218
Student Mode
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
Highlighted Images
| Age at visit: 39 years | OD | OS |
|---|---|
History
This 39 year old man was found to be color blind in the 5th grade, but he had good acuity until a few months ago.
Pedigree
| Age at visit: 39 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 41 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 43 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 44 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 45 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 46 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 47 years |
| Age at visit: 48 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Cone and Cone Rod Dystrophy | RPGR | Glu1031 del2gaGG | XL |
Disease:
Gene:
Allele 1:
Glu1031 del2gaGG
Allele 2:
Inheritance:
XL