Eye involvement in children with primary focal segmental glomerulosclerosis

Area of Science:

• Pediatric Nephrology
• Ophthalmology
• Genetics

Background:

• Distinct eye abnormalities are noted in children with nephrotic syndrome, especially Pierson syndrome (diffuse mesangial sclerosis).
• The association between ocular anomalies and steroid-resistant nephrotic syndrome (SRNS) requires further investigation.

Purpose of the Study:

• To investigate ocular anomalies in children diagnosed with steroid-resistant nephrotic syndrome (SRNS).
• To correlate genetic mutations with observed eye abnormalities in SRNS patients.

Main Methods:

• Ophthalmologic examinations were performed on 33 SRNS patients and 20 steroid-sensitive nephrotic syndrome (SSNS) controls.
• Mutational analysis was conducted for NPHS2, WT1, and LAMB2 genes in SRNS patients.

Main Results:

• 27.2% of SRNS patients exhibited various eye abnormalities, including anisometropic amblyopia, Mittendorf's dots, myopic astigmatism, and exotropia.
• No ocular abnormalities were found in the SSNS control group.
• Disease-causing mutations (NPHS2, WT1) were identified in 24.2% of SRNS patients; homozygous NPHS2 mutations were linked to ocular findings, while WT1 mutations were not.

Conclusions:

• Ocular involvement is a potential comorbidity in children with SRNS due to primary focal segmental glomerulosclerosis (FSGS).
• Ophthalmologic evaluation at diagnosis may aid in understanding the spectrum of ocular manifestations in SRNS.