Case
SR307
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR307
Student Mode
AR Stargardt Disease (IIA)
Male
Male
History
This 18 year old man could not be corrected to 20/20 at his most recent visit to his ophthalmologist. His maternal grandmother experienced reduced acuity in her 50's.
Pedigree
| Age at visit: 20 years |
| Age at visit: 21 years |
| Age at visit: 22 years |
| Age at visit: 23 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Gly1961Glu GGA>GAA | Glu1122Lys GAG>AAG | AR |
Disease:
Gene:
Allele 1:
Gly1961Glu GGA>GAA
Allele 2:
Glu1122Lys GAG>AAG
Inheritance:
AR