Pierson syndrome (PS) is a rare autosomal recessive disorder, primarily characterized by (1) congenital nephrotic syndrome, (2) ocular abnormalities, and (3) neurodevelopmental deficits. It is caused by mutations in the LAMB2 gene, which encodes the laminin β2 chain-a protein subunit that is part of a specific group of proteins known as laminins. These proteins are present in the glomerular basement membrane, neuromuscular junctions, and ocular structures. Although PS exhibits a wide spectrum of phenotypic presentations, the prognosis remains poor, with most patients not surviving beyond early childhood. Despite its rarity, PS is clinically significant due to its potential to cause end-stage kidney disease early in life. This review consolidates the latest insights into the etiopathogenesis, clinical manifestations, diagnosis, treatment, and prognosis of PS.

We present the case of an 11-year-old girl who has been followed for the past four years after the incidental discovery of asymptomatic microhematuria during school enrollment. Over the course of follow-up, glomerular-origin microhematuria persisted, and mild proteinuria developed and persisted for over six months. This prompted the need for a kidney biopsy. Light microscopy revealed normal kidney tissue, and immunofluorescence findings were negative. However, electron microscopy demonstrated significant variation in glomerular basement membrane (GBM) thickness, with focal splitting. A diagnosis of Alport syndrome was initially suspected, but genetic testing for collagen IV mutations (COL4A3, COL4A4, COL4A5) did not support this diagnosis. Instead, a variant in the LAMB2 gene (c.5039 C > T, p.Ala1680Val) was identified. The variant has not been previously described in the literature but is listed in ClinVar as a variant is of uncertain significance (VUS) and may be associated with the GBM abnormalities observed, leading to the persistent hematuria and proteinuria. Over a one-year follow-up period, the patient has maintained normal renal function without significant proteinuria or hypertension, with only persistent microhematuria. Given the uncertain long-term outcome and the potential impact of the LAMB2 variant on renal function, regular nephrological monitoring remains essential to detect and manage any progression to end-stage renal disease.

Congenital microcoria (MCOR) is a rare ocular anomaly characterized by pupil smaller than 2 mm with no response to mydriatic agents. It can present in two forms: autosomal recessive associated with Pierson syndrome and autosomal dominant isolated (associated with a high incidence of myopia and glaucoma). Studies have identified deletions in the 13q32.1 region of chromosome 13 that include the GPR180 gene, involved in smooth muscle cell growth, as the underlying cause. We describe 3 members of a family with deletion of the GPR180 gene on chromosome 13. In all, IOP was normal and gonioscopy showed iridocorneal angle dysgenesis with prominent ciliary processes. MCOR is due to poor development of the iris dilator muscle of genetic cause. Early diagnosis and continuous follow-up for possible complications such as amblyopia, progressive myopia and juvenile glaucoma is essential.

To report the effect of prophylactic 360° laser retinopexy and scleral buckle placement for retinal detachment (RD) prophylaxis in patients affected by Pierson syndrome (PS). This retrospective case series included 11 PS patients (2015-2024), analyzing demographic data, ophthalmological examinations, and genetic testing. Prophylactic interventions were compared with post-RD surgical interventions based on RD occurrence and timing. A one-sample proportion test evaluated outcome differences. This study of 11 PS patients evaluated the effectiveness of prophylactic 360° laser retinopexy and scleral buckle placement. Ten patients carried the LAMB2 c.440A>G mutation and had associated findings of thyroid and renal disease. All RDs were combined tractional RD (TRD) and rhegmatogenous RD (RRD) due to posterior tears. Eight eyes with TRD-RRD were actively treated with laser retinopexy and SB; six (75%) experienced redetachments. By contrast, seven eyes with TRD-RRD were treated prophylactically, with 86.6% of eyes treated with laser retinopexy and 100% of those receiving additional scleral buckle placement maintaining retinal integrity over an average follow-up of 3.4 years. Prophylactically treated eyes had significantly fewer RD recurrences compared with those treated surgically after RD onset ( P < 0.01), highlighting the benefits of early combined intervention in PS. This study's results suggest a potential role for prophylactic laser retinopexy and subsequent scleral buckle placement to prevent RD among patients with a confirmed diagnosis of PS.