Case
SR271
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR271
Student Mode
AR Stargardt Disease (IIA)
Male
Male
History
This 16 year old male first noticed some reduction in visual acuity at age 8. His visual acuity had been previously normal.
| Refraction OD: | -1.75 +2.50 x 115 |
|---|---|
| Refraction OS: | -1.75 +2.50 x 057 |
Pedigree
Teaching Points
The clinical features favoring the diagnosis of ABCA4-associated autosomal recessive Stargardt disease include: loss of acuity as his first symptom, nummular dark pigment overlying macular atrophy, clear peripapillary sparing and normally sighted parents.
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Glu1087Lys GAA>AAA | Glu1087Lys GAA>AAA | AR |
Disease:
Gene:
Allele 1:
Glu1087Lys GAA>AAA
Allele 2:
Glu1087Lys GAA>AAA
Inheritance:
AR