Seeing mitochondrial disease
Reviewed by Zhihang Cheng

This review highlights mitochondrial diseases as the most common inherited neurometabolic disorders, often affecting multiple high-energy organs, with eye involvement frequently representing the earliest or predominant feature. Diagnosis is challenging due to significant genetic and clinical heterogeneity, including variable expressivity, pleiotropy, locus heterogeneity, and mitochondrial DNA heteroplasmy. Early recognition and molecular genetic diagnosis are essential for prognosis, management, reproductive counselling, family screening, clinical trial access and emerging therapies. The review discusses the genetic mechanisms underlying phenotypic diversity, key ophthalmic and systemic manifestations, diagnostic pathways and the importance of timely investigation, while also outlining current treatments and patient-centred counselling strategies.

Ophthalmic manifestations of mitochondrial disorders.
Baxter MF, Borchert GA, Blakely EL, et al.
PROGRESS IN RETINAL AND EYE RESEARCH
2026;112:101466.