Ectopia Lentis et Pupillae Caused by ADAMTSL4 Pathogenic Variants and an Algorithm for Work-up

Area of Science:

• Ophthalmology
• Medical Genetics
• Molecular Biology

Background:

• Ectopia lentis is the displacement of the eye's lens from its normal anatomical position.
• This condition can manifest as an isolated finding or be associated with various systemic syndromes.
• Both inherited and acquired causes contribute to the spectrum of ectopia lentis.

Purpose of the Study:

• To report a case of isolated ectopia lentis et pupillae in a pediatric patient.
• To identify the underlying genetic cause of ectopia lentis in the described case.
• To discuss the utility of molecular genetic analysis in the diagnostic work-up of ectopia lentis.

Main Methods:

• Clinical examination of a 4-year-old girl presenting with ectopia lentis et pupillae.
• Whole exome sequencing to identify genetic variants.
• Segregation analysis to confirm pathogenicity of identified variants.

Main Results:

• The patient was diagnosed with isolated ectopia lentis et pupillae.
• Pathogenic variants in the ADAMTSL4 gene were identified as the cause of the condition.
• The identified variants were confirmed to segregate with the phenotype in the family.

Conclusions:

• Pathogenic variants in ADAMTSL4 are a cause of isolated ectopia lentis et pupillae.
• Molecular genetic testing is crucial for diagnosing inherited ectopia lentis.
• Early genetic diagnosis can aid in management and genetic counseling.