Mitochondrial Ocular Myopathy (MOM) is a rare inherited disorder primarily affecting the eye muscles and resulting from mitochondrial dysfunction. Mitochondria are cellular structures responsible for producing energy in the form of ATP. In the case of MOM, a defect or mutation in the mitochondrial DNA (mtDNA) impairs the functioning of the mitochondria, leading to a deficiency in energy production specifically in the eye muscles.
The condition is characterized by progressive weakness and wasting of the extraocular muscles, which control eye movements, leading to various visual disturbances and abnormalities. Symptoms include droopy eyelids (ptosis), restricted eye movements (ophthalmoparesis), double vision (diplopia), and difficulty in focusing. Some individuals with MOM may also experience generalized weakness, fatigue, and exercise intolerance due to the widespread involvement of mitochondrial dysfunction.
The age of onset, severity, and progression of symptoms can vary widely among affected individuals, even within the same family. MOM is typically inherited in a matrilineal pattern, as mitochondrial DNA is passed from the mother to her offspring.
Diagnosis of MOM typically involves a detailed clinical evaluation, electromyography (EMG) studies, blood tests for mitochondrial DNA mutations, and muscle biopsy for histological examination. Unfortunately, there is currently no cure for MOM. Treatment options primarily focus on symptom management, such as the use of eyeglasses, lenses, or prisms to correct vision abnormalities, and physical therapy to maintain muscle strength and mobility.
In summary, MOM is a rare genetic disorder that affects the eye muscles due to mitochondrial dysfunction. It causes visual disturbances and weakness in the extraocular muscles, leading to various ophthalmic symptoms.
