Identification of Genetic Variants Causing Paediatric Cataract in Myanmar

Area of Science:

• Ophthalmology
• Medical Genetics
• Genomics

Background:

• Paediatric cataract is a leading cause of childhood blindness globally.
• Genetic factors are implicated in a significant proportion of paediatric cataract cases.
• Previous genetic studies on paediatric cataract have shown variable diagnostic yields.

Purpose of the Study:

• To investigate the genetic basis of paediatric cataract in a cohort from Myanmar.
• To determine the diagnostic rate of genetic testing for paediatric cataract in this population.
• To identify specific genes associated with paediatric cataract in Myanmar.

Main Methods:

• Whole-exome sequencing was performed on 22 children (from 20 families) diagnosed with paediatric cataract.
• A panel of 180 cataract-related genes was screened.
• Variants were classified as pathogenic, likely pathogenic, or of uncertain significance.

Main Results:

• Pathogenic or likely pathogenic variants were identified in 45% (9/20) of probands.
• Variants were found in genes including MIP, COL2A1, NHS, GJA8, GJA3, CRYGC, CRYBB2, PAX6, and SLC7A8.
• A maximum diagnostic rate of 60% (12/20 probands) was achieved when including variants of uncertain significance.

Conclusions:

• This study represents the first genetic investigation of paediatric cataract in Myanmar.
• Genetic testing can achieve a diagnostic yield comparable to other international reports in this population.
• Identifying genetic causes is crucial for understanding and potentially managing paediatric cataract.