A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review.

Background: Pierson syndrome and X-linked Alport syndrome result from pathogenic variants in and , respectively, and both affect basement membranes in the kidney and the eye. This study describes the ocular features in an individual with a homozygous pathogenic variant and compares the reported abnormalities in Pierson syndrome with those in Alport syndrome.

Methods: A 28-year-old man who developed kidney failure 10 years previously and subsequently had an atrial septal defect repair was suspected of having genetic kidney disease on the basis of his likely diagnosis of Focal and Segmental Glomerulosclerosis (FSGS), his young age at presentation, and his cardiac anomaly.

Retinal Drusen Are More Common and Larger in Systemic Lupus Erythematosus With Renal Impairment.

Introduction: Complement has been implicated in systemic lupus erythematosus (SLE) pathogenesis on the basis of the associations with inherited complement defects and genome-wide association study risk alleles, glomerular deposits, reduced serum levels, and occasional reports of retinal drusen. This study examined drusen in SLE and their clinical significance.

Methods: This cross-sectional observational study compared individuals with SLE recruited from renal and rheumatology clinics with hospital controls.