Peripapillary atrophy in Stargardt disease

Area of Science:

• Ophthalmology
• Genetics
• Retinal Diseases

Background:

• Stargardt disease (STGD) is a common inherited macular dystrophy.
• Classic STGD findings include central atrophy and peripheral flecks.
• Peripapillary atrophy is not a typical STGD presentation.

Observation:

• This study reviewed 150 STGD patients retrospectively.
• Three patients (2.0%) exhibited peripapillary atrophy alongside typical STGD findings.
• Genetic analysis revealed specific ABCA4 mutation combinations in these cases.

Findings:

• Peripapillary atrophy was observed in 2.0% of STGD patients.
• Cases with peripapillary atrophy showed unique combinations of ABCA4 mutations (P1380L, IVS40 + 5G>A, R2030Q).
• Classic STGD findings were present in other patients without peripapillary lesions.

Implications:

• STGD can manifest with peripapillary atrophy.
• This phenotype may be linked to specific compound heterozygous or homozygous ABCA4 mutations.
• Recognizing this variant is crucial for accurate STGD diagnosis and genetic counseling.