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Cohort studyKidney international · 2026

Noninvasive optical coherence tomography biomarker for Alport syndrome, COL4-related focal segmental glomerulosclerosis, and COL4 variant interpretation.

Abdelrahman Ibrahim, Vijaya B Kolachalama, Tamer Abuelsamen … Laith Al-Rabadi

OphthalmologyCohort study

A noninvasive retinal eye scan accurately detects severe Alport syndrome, a hereditary kidney disease.

Noninvasive optical coherence tomography biomarker for Alport syndrome, COL4-related focal segmental glomerulosclerosis, and COL4 variant interpretation.

Abdelrahman Ibrahim … Laith Al-Rabadi

Kidney international · 2026

Background

Alport syndrome (alport syndrome) is a hereditary glomerulopathy often associated with ocular abnormalities, yet structural retinal biomarkers remain underutilized in nephrology.

Methods

We evaluated Temporal Thinning Index Maximum derived from optical coherence tomography in 93 genetically confirmed patients with alport syndrome and 136 controls (84 with chronic kidney disease and 52 healthy individuals).

n = 136 controls

Results

eye scan spots severe kidney disease with near-perfect accuracy

93%

Sensitivity

99%

Specificity

More results

Temporal Thinning Index Maximum stratified disease severity across genotypes (severe X-linked alport syndrome-Male/autosomal recessive alport syndrome: 11.8%; intermediate X-linked alport syndrome-Female/autosomal dominant alport syndrome: 7.3-8.1%; controls: 5.3-5.8%) and remained significantly associated with disease severity after adjustment for age, eGFR, and blood pressure.

More results

Temporal Thinning Index Maximum distinguished severe alport syndrome from primary immune-mediated focal segmental glomerulosclerosis (focal segmental glomerulosclerosis) (AUC 0.97;0.94-1.00) and differentiated COL4A-related focal segmental glomerulosclerosis from primary focal segmental glomerulosclerosis (AUC 0.91; 0.77-1.00).

“

Conclusion

Temporal Thinning Index Maximum provides a widely accessible, non-invasive structural biomarker that complements genetic testing and may aid in diagnosing inherited podocytopathies and interpreting COL4 variants of uncertain significance.

Post

Noninvasive optical coherence tomography biomarker for Alport syndrome, COL4-related focal segmental glomerulosclerosis, and COL4 variant interpretation.

A noninvasive retinal eye scan accurately detects severe Alport syndrome, a hereditary kidney disease.

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