Microspherophakia is a rare genetic disorder characterised by a smaller-than-normal lens in the human eye, which can lead to glaucoma and sometimes blindness. Researchers led by Upendra Nongthomba and Arun Kumar at the Department of Molecular Reproduction, Development and Genetics have now identified a new gene responsible for this disorder.

In collaboration with the Prabha Eye Clinic and Research Centre, Bangalore, the IISc team identified two families whose members had this abnormality. Advanced genetic analysis indicated that mutations in a particular gene (WRAP73/WDR8) were linked to the disorder.

The team replicated the disorder conditions in zebrafish by removing the identified gene from its genome. They found that knocking out the gene prevents the stability of a protein required during cell division and arrests retinal cell development, resulting in a smaller eye size. When the team re-inserted the corresponding human gene fragment into the affected fish, it reversed the symptoms of the disorder.

Though the exact mechanisms by which the WDR8 gene regulates early development of the eye are still unclear, these results may pave the way for early diagnosis and therapeutic remedies for Microspherophakia.