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 |
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Refraction OS: | -1.75 +2.50 x 057 |
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.
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
AR Stargardt Disease | ABCA4 | Glu1087Lys GAA>AAA | Glu1087Lys GAA>AAA | AR |