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Reno-ocular syndromes: pathophysiological mechanisms linking kidney and ocular disorders.
Ana Flávia Conegundes1, Luiza Haikal de Paula1, Rafael Dos Santos Borges1
1Interdisciplinary Laboratory of Medical Investigation, Unit of Pediatric Nephrology, Faculty of Medicine, Federal University of Minas Gerais, 190 Prof. Alfredo Balena Avenue, Santa Efigênia, Belo Horizonte, MG, 30130100, Brazil.
Pediatric Nephrology (Berlin, Germany)
|July 8, 2026
Summary
Kidneys and eyes share genetic and molecular pathways, leading to frequent anomalies. Understanding these shared mechanisms, like BMP-7 and PAX2, aids in diagnosing and treating related systemic and rare diseases.
Area of Science:
- Nephrology
- Ophthalmology
- Genetics
- Developmental Biology
Background:
- Renal and ocular anomalies frequently co-occur, indicating shared developmental pathways.
- Systemic diseases and rare syndromes often impact both kidneys and eyes.
- Conserved molecular mechanisms govern the development and integrity of both organs.
Purpose of the Study:
- To review the common molecular and genetic bases of renal and ocular involvement.
- To explore shared pathophysiological mechanisms in systemic and rare diseases affecting both organs.
- To highlight the diagnostic and prognostic implications of the kidney-retina axis.
Main Methods:
- Literature search of PubMed, SciELO, Scopus, and Web of Science databases.
- Review article focusing on genetic and molecular links between renal and ocular tissues.
- Analysis of conserved pathways, transcription factors, and extracellular matrix components.
Main Results:
- Bone Morphogenetic Protein-7 (BMP-7) and Paired Box 2 (PAX2) are key regulators of nephrogenesis and ocular development.
- Extracellular matrix components like laminin β2 (LAMB2) and type IV collagen are crucial for both organs' integrity.
- Ciliopathies, metabolic disorders (Fabry disease, cystinosis, primary hyperoxaluria), and immune diseases cause parallel renal and ocular injury.
- The kidney-retina axis allows retinal imaging for non-invasive assessment of renal microvasculature.
Conclusions:
- Shared genetic, developmental, structural, metabolic, and immunological mechanisms underlie frequent renal and ocular associations.
- Understanding these shared pathways is vital for diagnosing and managing syndromic phenotypes and systemic diseases.
- The retina serves as a valuable sentinel organ for evaluating kidney health non-invasively.
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