Background
- Stargardt disease (STGD), inherited through an autosomal recessive pattern, is due to mutations in the ABCA4 gene.1
- Clinical features include worsening central vision and yellow-white autofluorescent flecks in the macula, usually within the first two decades of life.2,3
- Three siblings were previously described in Retina Revealed as having STGD based on their clinical findings. Since the publication in 2013, the family has received genetic testing and all 3 tested positive for 1 pathogenic allele in the ABCA4 gene.
- Interestingly, only about half of all patients with a clinical diagnosis of STGD have 2 pathologic ABCA4 alleles, despite the longstanding belief that both variants are needed for the disease.4-6
- The first feature in the two youngest siblings was a thickened external limiting membrane (ELM) seen on OCT at 4 and 5 years of age, several years before visual acuity loss, which has previously been reported (RR#55).7
- The genetic testing and clinical features over a decade later confirm the diagnosis of STGD and reinforces the hypothesis that the ELM may be used as a biomarker for early detection and diagnosis of STGD.