SR271

AR Stargardt Disease (IIA)

Male

Male

SR271

AR Stargardt Disease (IIA)

Male

Male

Highlighted Images

Age at visit: 16 years
OD OS

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.

Age at visit: 16 years

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
Gene:
Allele 1:
Glu1087Lys GAA>AAA
Allele 2:
Glu1087Lys GAA>AAA
Inheritance:
AR
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