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Using Retinal Imaging to Study Dementia

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Inner Retina Changes in ABCA4-Related Retinopathy: Structure-Function Relationship.

Andrea Maria Coppé¹, Giancarlo Iarossi¹, Alessandro Cappelli¹

¹Ophthalmology Department, Bambino Gesù Children's Hospital, Palidoro (Rome), Italy.

Investigative Ophthalmology & Visual Science

|November 21, 2025

Summary

ABCA4-related retinal dystrophy (ABCA4-RD) shows inner retinal thinning and reduced photopic negative response (PhNR) function. Inner retinal anatomy correlates with PhNR amplitude, suggesting a causal link in ABCA4-RD progression.

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Area of Science:

Ophthalmology
Genetics
Neuroscience

Background:

ABCA4-related retinal dystrophy (ABCA4-RD) is a genetic disorder affecting photoreceptor cells.
Previous studies suggest alterations in the photopic negative response (PhNR) in ABCA4-RD patients.

Purpose of the Study:

To evaluate inner retinal changes in ABCA4-RD patients.
To correlate these anatomical changes with PhNR function.

Main Methods:

Retrospective study of 19 ABCA4-RD patients and 20 controls.
Spectral domain optical coherence tomography (SD-OCT) for retinal layer analysis.
Electrophysiological recordings of ERG PhNR.

Main Results:

SD-OCT revealed thinning of outer nuclear and ganglion cell layers in ABCA4-RD patients.
Reduced PhNR amplitude was observed in most ABCA4-RD eyes, exceeding cone b-wave losses.
Ganglion cell layer volume positively correlated with PhNR amplitude.

Conclusions:

Inner retinal anatomical changes in ABCA4-RD correlate with functional deficits detected by PhNR.
Findings suggest a causal relationship between structural and functional abnormalities in the inner retina.
Future research should consider the inner retina's role in ABCA4-RD progression and treatment efficacy.