Stargardt disease: Multimodal imaging: A review

Area of Science:

• Ophthalmology
• Genetics
• Medical Imaging

Background:

• Stargardt disease (STGD1) is an inherited retinal dystrophy causing progressive central vision loss.
• Characterized by subretinal lipofuscin-like deposits, STGD1 impacts central vision.
• Advances in molecular genetics and therapy are emerging for STGD1.

Purpose of the Study:

• To review the role of multimodal imaging in Stargardt disease.
• To correlate imaging findings with STGD1 genotypes and disease progression.
• To highlight imaging as an outcome measure for emerging STGD1 therapies.

Main Methods:

• Review of key imaging modalities used in STGD1.
• Correlation of imaging signs with clinical presentations and genetic variants.
• Discussion of artificial intelligence applications in STGD1 imaging analysis.

Main Results:

• Multimodal imaging offers unique, non-invasive biomarkers for STGD1.
• Imaging features aid in gene variant interpretation and understanding pathophysiology.
• Neural networks enhance lesion segmentation and progression measurement in STGD1.

Conclusions:

• Multimodal imaging is crucial for diagnosing and monitoring Stargardt disease.
• Imaging biomarkers can predict STGD1 genotype and disease trajectory.
• Emerging therapies for STGD1 can be evaluated using imaging outcome measures.