Familial mitochondrial myopathy with cataract

Area of Science:

• Ophthalmology
• Neurology
• Genetics

Background:

• Investigating a rare familial mitochondrial myopathy presenting with ophthalmoplegia and cataracts.
• Examining the genetic and pathological basis of multisystemic ocular myopathy.

Observation:

• A 62-year-old female presented with severe progressive ophthalmoplegia, facial, pharyngeal, and limb muscle involvement, and a history of bilateral cataract surgery.
• Her daughter exhibited bilateral cataracts and mild facial weakness, with pathological changes in ocular muscles.
• The patient's grandson had undergone surgery for bilateral cataracts at age 3, despite being clinically healthy.

Findings:

• Skeletal muscle biopsies revealed myopathy with abnormal mitochondria in type I fibers.
• Similar mitochondrial abnormalities were found in the daughter's ocular muscle biopsy.
• The same HLA haplotype (A2-B21) was identified in all three affected individuals.

Implications:

• Cataracts are a significant multisystem association in this type of ocular myopathy.
• The findings suggest a hereditary pattern for mitochondrial myopathy with cataracts.
• Identifying the HLA haplotype may aid in diagnosing and understanding the genetic predisposition to this condition.