Mitochondrial disease, an inherited genetic condition affecting the body's energy-making batteries (mitochondria), can manifest from birth or develop later in life, leading to various health challenges. Dr. Dhrubbojyoti Saaha at Total Retina Eye Care in Dhantoli, Nagpur, delves into the intricacies of this condition and its implications for eye health.

What Causes Mitochondrial Disease? With approximately 80% of rare diseases having a genetic basis, mitochondrial disease arises from genetic mutations within the mitochondrial genetic code inherited solely from the mother. These mutations, akin to genetic spelling mistakes, disrupt mitochondrial function, impacting energy production within cells.

Mitochondrial Disease and Eye Health: Eye involvement is prevalent, with half of affected individuals experiencing eye-related issues. Sight loss, double vision (diplopia), and upper eyelid drooping (ptosis) are common manifestations. Optic nerve damage, macular degeneration, cataracts, or stroke may contribute to vision loss, while weakened eye muscles lead to diplopia and ptosis.

Diagnosis and Treatment: Genetic testing is pivotal for diagnosis, aiding in predicting disease progression and guiding treatment decisions. Monitoring eye health through comprehensive tests facilitates treatment planning and eligibility for clinical trials or research studies, including gene therapy. Treatment options are tailored to individual needs, ensuring informed decision-making and access to the latest advancements.

Ongoing Research: Research endeavors focus on identifying remaining genes linked to mitochondrial-related eye disorders, refining imaging techniques for disease monitoring, and developing innovative treatments to mitigate sight loss. The ultimate goal is to halt or slow the progression of genetic eye diseases, improving patient outcomes.

At Total Retina Eye Care, Dr. Dhrubbojyoti Saaha and the team are dedicated to providing comprehensive care for mitochondrial-related eye conditions, utilizing advanced diagnostic tools and staying abreast of cutting-edge research to offer optimal treatment strategies.

Visit Total Retina Eye Care in Dhantoli, Nagpur, for expert evaluation and personalized management of mitochondrial-related eye concerns.