Case Report: Multimodal Imaging Features of an ABCA4 Cone Dystrophy

Area of Science:

• Ophthalmology
• Genetics
• Medical Imaging

Background:

• Cone dystrophies are rare inherited retinal diseases affecting photoreceptors.
• Accurate diagnosis relies on identifying causative genes and understanding phenotypic variations.
• Multimodal imaging plays a crucial role in characterizing these conditions.

Observation:

• A case report details a 34-year-old woman with progressive vision loss and central scotoma.
• Fundus autofluorescence, optical coherence tomography (OCT), and OCT angiography were utilized.
• Electroretinography confirmed cone dysfunction, and genetic testing identified an ABCA4 gene alteration.

Findings:

• Multimodal imaging revealed incomplete focal foveal cavitation and reduced superficial and deep capillary plexus density.
• An increased foveal avascular area and subtle voids in choriocapillaris blood flow were observed.
• Green excitation fundus autofluorescence proved more precise for characterizing hypofluorescent lesions.

Implications:

• Incomplete focal cavitation may indicate early ABCA4-associated central cone dystrophy.
• Reduced foveal vessel density is a potential indicator linked to the genetic mutation.
• These imaging findings can assist clinicians in diagnosing and managing this specific inherited retinal disorder.