Case
SR344
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR344
Student Mode
AR Stargardt Disease (IIA)
Male
Male
History
This 52 year old man first noticed reduced visual acuity at age 21.
Pedigree
| Age at visit: 52 years |
| OD | |||
|---|---|---|---|
| Age at visit: 54 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 59 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Glu471Lys GAA>AAA / Glu2131Lys GAA>AAA | Asp2181 del36gaCCTGAACCCTGTGGAGCAGTTCTTCCAGGGGAACTT | AR |
Disease:
Gene:
Allele 1:
Glu471Lys GAA>AAA / Glu2131Lys GAA>AAA
Allele 2:
Asp2181 del36gaCCTGAACCCTGTGGAGCAGTTCTTCCAGGGGAACTT
Inheritance:
AR