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New Genetic Cause of Optic Atrophy Discovered

10/17/2025

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Summary

Story summary

Researchers from the Medical University of Vienna and Graz identified a new genetic cause of hereditary optic atrophy via a variant in the PPIB gene.
The study, published in Genetics in Medicine, shows the PPIB variant disrupts mitochondrial function in affected individuals.
This finding could enable genetic diagnosis for cases lacking a clear cause.
A multi-department collaboration will investigate the PPIB variant’s impact on cell metabolism and optic atrophy.

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Story summary

Researchers from the Medical University of Vienna and Graz identified a new genetic cause of hereditary optic atrophy via a variant in the PPIB gene.
The study, published in Genetics in Medicine, shows the PPIB variant disrupts mitochondrial function in affected individuals.
This finding could enable genetic diagnosis for cases lacking a clear cause.
A multi-department collaboration will investigate the PPIB variant’s impact on cell metabolism and optic atrophy.