Case
SR1484
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR1484
Student Mode
AR Stargardt Disease (IIA)
Male
Male
History
This 44 year old man first had difficulty seeing the chalk board in school in the 7th grade.
Pedigree
| Age at visit: 43 years |
| Age at visit: 44 years |
| Age at visit: 46 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 50 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Trp339Gly TGG>GGG | Gly863Ala (G)GA>(G)CA / Arg572Gln CGA>CAA | AR |
Disease:
Gene:
Allele 1:
Trp339Gly TGG>GGG
Allele 2:
Gly863Ala (G)GA>(G)CA / Arg572Gln CGA>CAA
Inheritance:
AR