Peters Anomaly in Nail-Patella Syndrome: A Case Report and Clinico-Genetic Correlation

Area of Science:

• Ophthalmology
• Genetics
• Nephrology

Background:

• Nail-patella syndrome (NPS) is a rare genetic disorder affecting connective tissues, characterized by limb, nail, and joint abnormalities, and kidney disease.
• Ocular involvement is rare in NPS, but this case highlights a potential link to Peters anomaly.
• Mutations in the LMX1B gene are known to cause NPS.

Observation:

• A child with classic nail-patella syndrome (NPS) presented with Peters anomaly, a severe congenital corneal defect.
• The patient also exhibited skeletal anomalies, nail deformities, and nephropathy consistent with NPS.
• Genetic analysis revealed a novel heterozygous missense mutation (p.Trp.266Ser) in the LMX1B gene.

Findings:

• The identified LMX1B mutation (p.Trp.266Ser) is novel and suggests a disruption of protein function.
• This is the first reported case associating Peters anomaly with nail-patella syndrome (NPS).
• The corneal findings in this patient resemble those seen in congenital corneal opacification.

Implications:

• This novel association suggests that LMX1B gene mutations may play a role in the development of Peters anomaly.
• Understanding this link can improve the diagnosis and management of patients with overlapping features of NPS and corneal anomalies.
• Further research into the LMX1B gene's role in ocular development is warranted.